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Alopecia

MedGen UID:
7982
Concept ID:
C0002170
Finding
Synonyms: Baldness
SNOMED CT: Loss of hair (278040002); Falling hair (278040002); Thinning hair (278040002); Bald (56317004); Hair loss disorder (56317004); Alopecia (56317004); Loss of hair (56317004); Baldness (56317004)
 
HPO: HP:0001596

Definition

You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chemotherapy for cancer, you may also lose your hair. Other causes are stress, a low protein diet, a family history, or poor nutrition. . Treatment for hair loss depends on the cause. In some cases, treating the underlying cause will correct the problem. Other treatments include medicines and hair restoration. .  [from MedlinePlus]

Conditions with this feature

Celiac disease
MedGen UID:
3291
Concept ID:
C0007570
Disease or Syndrome
Celiac disease is a systemic immune disease that can be associated with gastrointestinal findings (diarrhea, weight loss, abdominal pain, anorexia, lactose intolerance, abdominal distention, and irritability) and/or highly variable non-gastrointestinal findings (iron-deficiency anemia, dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than nonclassic celiac disease, characterized by absence of gastrointestinal symptoms.
Progressive myositis ossificans
MedGen UID:
4698
Concept ID:
C0016037
Disease or Syndrome
Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner, with most patients being confined to a wheelchair by the third decade of life and requiring lifelong care (summary by Petrie et al., 2009).
Focal dermal hypoplasia
MedGen UID:
42055
Concept ID:
C0016395
Disease or Syndrome
Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, skeletal system, eyes, and face. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucoid papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo/syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, and pointed chin. Occasional findings include dental anomalies, abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment.
Hallermann-Streiff syndrome
MedGen UID:
5414
Concept ID:
C0018522
Congenital Abnormality
Hallermann-Streiff syndrome is characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies, and proportionate short stature (Hallermann, 1948; Streiff, 1950; Francois, 1958). Mental retardation is present in a minority of cases (Gorlin et al., 1990).
Autosomal recessive congenital ichthyosis 1
MedGen UID:
43813
Concept ID:
C0020758
Congenital Abnormality
Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe lamellar ichthyosis (LI) with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma.
Incontinentia pigmenti syndrome
MedGen UID:
7049
Concept ID:
C0021171
Disease or Syndrome
Incontinentia pigmenti (IP) is a disorder that affects the skin, hair, teeth, nails, eyes, and central nervous system. Characteristic skin lesions evolve through four stages: I. blistering (birth to age ~4 months); II. a wart-like rash (for several months); III. swirling macular hyperpigmentation (age ~6 months into adulthood); and IV. linear hypopigmentation. Alopecia, hypodontia, abnormal tooth shape, and dystrophic nails are observed. Neovascularization of the retina, present in some individuals, predisposes to retinal detachment. Neurologic findings including cognitive delays/intellectual disability are occasionally seen.
Hypomelanosis of Ito
MedGen UID:
5920
Concept ID:
C0022283
Disease or Syndrome
A neurocutaneous syndrome characterized by a bizarre, more or less symmetrical leukoderma with depigmented streaks, patches, and whorls, sometimes associated with hyperkeratosis follicularis. Associated disorders include seizures, psychomotor retardation, macrocephaly, and ophthalmological and other abnormalities.
Mycosis fungoides
MedGen UID:
7771
Concept ID:
C0026948
Neoplastic Process
Mycosis fungoides is a malignant T-cell lymphoma of the skin, first reported (and named) by Alibert (1835).
Rothmund-Thomson syndrome
MedGen UID:
10819
Concept ID:
C0032339
Disease or Syndrome
Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma; sparse hair, eyelashes, and/or eyebrows; small stature; skeletal and dental abnormalities; cataracts; and an increased risk for cancer, especially osteosarcoma. The skin is typically normal at birth; the rash of RTS develops between age three and six months as erythema, swelling, and blistering on the face and subsequently spreads to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, punctate atrophy, and telangiectases, collectively known as poikiloderma. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities include dysplasias, absent or malformed bones (such as absent radii), osteopenia, and delayed bone formation.
Hutchinson-Gilford syndrome
MedGen UID:
46123
Concept ID:
C0033300
Disease or Syndrome
Hutchinson-Gilford progeria syndrome (HGPS, progeria) is characterized by clinical features that develop in childhood and resemble some features of accelerated aging. Although signs and symptoms vary in age of onset and severity, they are remarkably consistent overall. Children with HGPS usually appear normal at birth. Profound failure to thrive occurs during the first year. Characteristic facies, with receding mandible, narrow nasal bridge and pointed nasal tip develop. During the first to third year the following usually become apparent: partial alopecia progressing to total alopecia, loss of subcutaneous fat, progressive joint contractures, bone changes, nail dystrophy, and abnormal tightness and/or small soft outpouchings of the skin over the abdomen and upper thighs, and delayed primary tooth eruption. Later findings include low-frequency conductive hearing loss, dental crowding, and partial lack of secondary tooth eruption. Additional findings present in some but not all affected individuals include photophobia, excessive ocular tearing, exposure keratitis, and Raynaud phenomenon. Motor and mental development is normal. Death occurs as a result of complications of severe atherosclerosis, either cardiac disease (myocardial infarction) or cerebrovascular disease (stroke), generally between ages six and 20 years. Average life span is approximately 13 years.
Giant cell arteritis
MedGen UID:
21478
Concept ID:
C0039483
Disease or Syndrome
Giant cell arteritis is a disorder that causes inflammation of arteries of the scalp, neck, and arms. The inflammation narrows the arteries, which keeps blood from flowing well. Giant cell arteritis often occurs with another disorder called polymyalgia rheumatica. Both disorders are more common in women than in men. They almost always affect people over the age of 50. Early symptoms of giant cell arteritis resemble the flu: fatigue, loss of appetite, and fever. Other symptoms include headaches, pain and tenderness over the temples, double vision or visual loss, dizziness, and problems with coordination and balance. You may also have pain in your jaw and tongue. Your doctor will make the diagnosis based on your medical history, symptoms, and physical examination. There is no single test to diagnose giant cell arteritis, but you may have tests that measure inflammation. Treatment is usually with corticosteroids. Early treatment is important; otherwise there is a risk of permanent vision loss or stroke. However, when properly treated, giant cell arteritis rarely comes back. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.
Hair-pulling
MedGen UID:
21654
Concept ID:
C0040953
Mental or Behavioral Dysfunction
Compulsion to pull out one's hair.
Recessive dystrophic epidermolysis bullosa
MedGen UID:
36311
Concept ID:
C0079474
Disease or Syndrome
Based on the most recent classification system, dystrophic epidermolysis bullosa (DEB) includes three subtypes: Recessive DEB, severe generalized (RDEB-sev gen) (formerly called Hallopeau-Siemens type (RDEB-HS). Recessive DEB, generalized other (RDEB-O) (formerly called non-Hallopeau-Siemens type (RDEB-non-HS). Dominant DEB (DDEB) . In RDEB-sev gen, blisters affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, severe nutritional deficiency and secondary problems are common. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, a hallmark of this disorder. The lifetime risk of aggressive squamous cell carcinoma is over 90%. In contrast, the blistering in the less severe forms of RDEB-O may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the severe, mutilating scarring seen in RDEB-sev gen. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.
Junctional epidermolysis bullosa gravis of Herlitz
MedGen UID:
36328
Concept ID:
C0079683
Disease or Syndrome
Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the upper airway. Blisters generally heal with no significant scarring. Broad classification of JEB includes Herlitz JEB (aka lethal) and non-Herlitz JEB (aka non-lethal). In Herlitz JEB, the classic severe form of JEB, blisters are present at birth or become apparent in the neonatal period. Congenital malformations of the urinary tract and bladder may also occur. In non-Herlitz JEB, the phenotype may be mild with blistering localized to hands, feet, knees, and elbows with or without renal or ureteral involvement. Some individuals never blister after the newborn period. Additional features shared by JEB and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, pseudosyndactyly, and other contractures.
Polyglandular autoimmune syndrome, type 1
MedGen UID:
39125
Concept ID:
C0085859
Disease or Syndrome
Autoimmune polyglandular syndrome type I is characterized by the presence of 2 of 3 major clinical symptoms: Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis (Neufeld et al., 1981).
Polyglandular autoimmune syndrome, type 2
MedGen UID:
39126
Concept ID:
C0085860
Disease or Syndrome
Autoimmune polyendocrine syndrome type II (APS2), or Schmidt syndrome, is characterized by the presence of autoimmune Addison disease in association with either autoimmune thyroid disease or type I diabetes mellitus, or both. Chronic candidiasis is not present. APS2 may occur at any age and in both sexes, but is most common in middle-aged females and is very rare in childhood (summary by Betterle et al., 2004). See 240300 for a phenotypic description of autoimmune polyendocrine syndrome type I (APS1).
Baldness, male pattern
MedGen UID:
56404
Concept ID:
C0162311
Disease or Syndrome
Androgenetic alopecia is characterized by a loss of hair from the scalp that follows a defined pattern (Hamilton, 1951). It occurs in women as well as in men. It is caused by a shortening of the anagen (growth) phase and miniaturization of the hair follicle, which results in the formation of progressively thinner, shorter hair (Bergfeld, 1995). In men, the condition is often referred to as male pattern baldness (MPB) and appears to be androgen-dependent (Hamilton, 1942). The condition is hereditary, and follows a pattern that may be consistent with an autosomal dominant trait (Osborn, 1916). Linkage evidence for an autosomal locus on 3q26 (AGA1) has been identified (Hillmer et al., 2008). See 300710 (AGA2) for a discussion of X linkage of androgenetic alopecia. A third locus has been found on chromosome 20p11 (AGA3; 612421).
Hidrotic ectodermal dysplasia syndrome
MedGen UID:
56416
Concept ID:
C0162361
Congenital Abnormality
Hidrotic ectodermal dysplasia 2, or Clouston syndrome (referred to as HED2 throughout this GeneReview) is characterized by partial or total alopecia, dystrophy of the nails, hyperpigmentation of the skin (especially over the joints), and clubbing of the fingers. Sparse scalp hair and dysplastic nails are seen early in life. In infancy, scalp hair is wiry, brittle, patchy, and pale; progressive hair loss may lead to total alopecia by puberty. The nails may be milky white in early childhood; they gradually become dystrophic, thick, and distally separated from the nail bed. Palmoplantar keratoderma may develop during childhood and increases in severity with age. The clinical manifestations are highly variable even within the same family.
Congenital erythropoietic porphyria
MedGen UID:
102408
Concept ID:
C0162530
Disease or Syndrome
The porphyrias are diseases caused by defects in heme synthesis, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver (Gross et al., 2000). Desnick and Astrin (2002) provided a comprehensive review of congenital erythropoietic porphyria pathogenesis and treatment. One patient with a phenotype suggestive of congenital erythropoietic anemia was found to have a mutation in the GATA1 gene (305371.0010) that affected UROS expression (see XLTT, 314050).
Hepatoerythropoietic porphyria
MedGen UID:
57940
Concept ID:
C0162569
Disease or Syndrome
An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating.
Johanson-Blizzard syndrome
MedGen UID:
59798
Concept ID:
C0175692
Congenital Abnormality
Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency (summary by Al-Dosari et al., 2008).
Biotinidase deficiency
MedGen UID:
66323
Concept ID:
C0220754
Disease or Syndrome
If untreated, young children with profound biotinidase deficiency usually exhibit neurologic abnormalities including seizures, hypotonia, ataxia, developmental delay, vision problems, hearing loss, and cutaneous abnormalities (e.g., alopecia, skin rash, candidiasis). Older children and adolescents with profound biotinidase deficiency often exhibit motor limb weakness, spastic paresis, and decreased visual acuity. Once vision problems, hearing loss, and developmental delay occur, they are usually irreversible, even with biotin therapy. Individuals with partial biotinidase deficiency may have hypotonia, skin rash, and hair loss, particularly during times of stress.
Hereditary acrodermatitis enteropathica
MedGen UID:
66355
Concept ID:
C0221036
Disease or Syndrome
severe human skin and gastrointestinal disease inherited as a recessive autosomal trait that is characterized by the symptoms of zinc deficiency and clears up when zinc is added to the diet.
Keratosis pilaris
MedGen UID:
82664
Concept ID:
C0263383
Acquired Abnormality
Pili torti
MedGen UID:
82670
Concept ID:
C0263491
Disease or Syndrome
Pili torti, or twisted hair, is a condition in which the hair shafts are flattened and rotated along their long axis. Hairs are fragile and break at short length. Some patients may have associated dental or nail findings, and many have resolution of the fragile hair at puberty (review by Dawber, 1996). Pili torti is also a feature in several disorders, including Bjornstad syndrome (BJS; 262000), Bazex syndrome (BZX; 301845), and Menkes disease (309400).
Perifolliculitis capitis abscedens et suffodiens
MedGen UID:
78097
Concept ID:
C0263506
Disease or Syndrome
Perifolliculitis capitis abscedens et suffodiens is a chronic inflammatory disease of the scalp characterized by the presence of large and small nodules that suppurate and intercommunicate by sinus formation. It may be more frequent in black males than in others (summary by McMullan and Zeligman, 1956).
Robinow syndrome
MedGen UID:
78535
Concept ID:
C0265205
Disease or Syndrome
Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic limb shortening associated with facial and genital abnormalities (Robinow et al., 1969). Both autosomal dominant and autosomal recessive (268310) forms have been described; the recessive form is caused by mutations in the ROR2 gene (602337).
Child syndrome
MedGen UID:
82697
Concept ID:
C0265267
Disease or Syndrome
The NSDHL-related disorders include: CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, an X-linked dominant condition that is usually male lethal during gestation and thus predominantly affects females; and CK syndrome, an X-linked recessive disorder that affects males. CHILD syndrome is characterized by unilateral distribution of ichthyosiform (yellow scaly) skin lesions and ipsilateral limb defects that range from shortening of the metacarpals and phalanges to absence of the entire limb. Intellect is usually normal. The ichthyosiform skin lesions are usually present at birth or in the first weeks of life; new lesions can develop in later life. Nail changes are also common. The heart, lung, and kidneys can also be involved. CK syndrome (named for the initials of the original proband) is characterized by mild to severe cognitive impairment and behavior problems (aggression, attention deficit hyperactivity disorder [ADHD], and irritability). All affected males reported have developed seizures in infancy and have cerebral cortical malformations and microcephaly. All have distinctive facial features, a thin habitus, and relatively long, thin fingers and toes. Some have scoliosis and kyphosis.
Adams-Oliver syndrome
MedGen UID:
78544
Concept ID:
C0265268
Disease or Syndrome
Adams-Oliver syndrome (AOS) is characterized by the congenital absence of skin, known as 'aplasia cutis congenita,' usually limited to the scalp vertex, and transverse limb defects. The clinical features are highly variable and can also include vascular defects, congenital cardiac malformations, and other abnormalities (summary by Verdyck et al., 2006). Genetic Heterogeneity of Adams-Oliver Syndrome Another autosomal dominant form of Adams-Oliver syndrome (AOS3; 614814) is caused by mutation in the RBPJ gene (147183) on chromosome 4p15. Autosomal recessive forms of Adams-Oliver syndrome include AOS2 (614219), caused by mutation in the DOCK6 gene (614194) on chromosome 19p13.2, and AOS4 (615297), caused by mutation in the EOGT gene (614789) on chromosome 3p14.
Epidermal nevus syndrome
MedGen UID:
120533
Concept ID:
C0265318
Disease or Syndrome
Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001).
Moynahan's syndrome
MedGen UID:
120535
Concept ID:
C0265328
Congenital Abnormality
Alopecia or hypotrichosis, microcephaly, seizures, and mental retardation. A suggested classification groups this syndrome into three types: Type I. Total alopecia and mental retardation, the main features, in association with microcephaly. Type II. Subtotal alopecia and mental retardation with or without epilepsy. Type III. Subtotal alopecia and psychomotor retardation with microcephaly and epilepsy.
Erythrokeratodermia variabilis
MedGen UID:
75587
Concept ID:
C0265961
Congenital Abnormality
The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991).
Mutilating keratoderma
MedGen UID:
78579
Concept ID:
C0265964
Congenital Abnormality
Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin. In the classic form of Vohwinkel syndrome, affected individuals have thick, honeycomb-like calluses on the palms of the hands and soles of the feet (palmoplantar keratoses) beginning in infancy or early childhood. Affected children also typically have distinctive starfish-shaped patches of thickened skin on the tops of the fingers and toes or on the knees. Within a few years they develop tight bands of abnormal fibrous tissue around their fingers and toes (pseudoainhum); the bands may cut off the circulation to the digits and result in spontaneous amputation. People with the classic form of the disorder also have hearing loss. The variant form of Vohwinkel syndrome does not involve hearing loss, and the skin features also include widespread dry, scaly skin (ichthyosis), especially on the limbs. The ichthyosis is usually mild, and there may also be mild reddening of the skin (erythroderma). Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life.
Congenital alopecia X-linked
MedGen UID:
78581
Concept ID:
C0265992
Congenital Abnormality
Pili torti-deafness syndrome
MedGen UID:
82728
Concept ID:
C0266006
Congenital Abnormality
Bjornstad syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss and pili torti. The hearing loss is congenital and of variable severity. Pili torti (twisted hairs), a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair very brittle, is usually recognized early in childhood (Selvaag, 2000).
Triglyceride storage disease with ichthyosis
MedGen UID:
82780
Concept ID:
C0268238
Disease or Syndrome
Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides, and these fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. People with this condition also have dry, scaly skin (ichthyosis), which is usually present at birth. Additional features of this condition include an enlarged liver (hepatomegaly), clouding of the lens of the eyes (cataracts), difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness (myopathy), involuntary movement of the eyes (nystagmus), and mild intellectual disability. The signs and symptoms vary greatly among individuals with Chanarin-Dorfman syndrome. Some people may have ichthyosis only, while others may have problems affecting many areas of the body.
Familial porphyria cutanea tarda
MedGen UID:
75669
Concept ID:
C0268323
Disease or Syndrome
Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980). De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (176090), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980). PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (613609) that are responsible for hereditary hemochromatosis (235200) (review by Lambrecht et al., 2007).
Ehlers-Danlos syndrome, type 4
MedGen UID:
82790
Concept ID:
C0268338
Disease or Syndrome
Ehlers-Danlos syndrome type IV (EDS type IV) is characterized by thin, translucent skin; easy bruising; characteristic facial appearance (in some individuals); and arterial, intestinal, and/or uterine fragility. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in the majority of adults identified to have EDS type IV. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. Neonates may present with clubfoot and/or congenital dislocation of the hips. In childhood, inguinal hernia, pneumothorax, and recurrent joint subluxation or dislocation can occur. Pregnancy for women with EDS type IV has as much as a 12% risk for death from peripartum arterial rupture or uterine rupture. One-fourth of individuals with EDS type IV who have undergone laboratory testing to confirm their diagnosis have experienced a significant medical problem by age 20 years and more than 80% by age 40 years. The median age of death in this reviewed population was 48 years.
Alstrom syndrome
MedGen UID:
78675
Concept ID:
C0268425
Congenital Abnormality
Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy, the insulin resistance syndrome, and multiple organ failure. Wide clinical variability is observed among affected individuals, even within the same family. Cone-rod dystrophy presents as progressive visual impairment, photophobia, and nystagmus usually starting between birth and age 15 months. Many individuals lose all perception of light by the end of the second decade, but a minority retain the ability to read large print into the third decade. Children usually have normal birth weight but develop truncal obesity during their first year. Progressive sensorineural hearing loss presents in the first decade in as many as 70% of individuals. Hearing loss may progress to the severe or moderately severe range (40-70 db) by the end of the first to second decade. Insulin resistance is typically accompanied by the skin changes of acanthosis nigricans, and proceeds to type 2 diabetes in the majority by the third decade. Nearly all demonstrate associated dyslipidemia. Other endocrine abnormalities can include hypothyroidism, hypogonadotropic hypogonadism in boys, and polycystic ovaries in girls. More than 60% of individuals with Alström syndrome develop cardiac failure as a result of dilated or restrictive cardiomyopathy. About 50% of individuals have delay in early developmental milestones; intelligence is normal. Liver involvement includes elevation of transaminases, steatosis, hepatosplenomegaly, and steatohepatitis. Portal hypertension and cirrhosis can lead to hepatic encephalopathy and life-threatening esophageal varices. Pulmonary dysfunction and severe renal disease may also develop. End-stage renal disease (ESRD) can occur as early as the late teens.
Holocarboxylase synthetase deficiency
MedGen UID:
120653
Concept ID:
C0268581
Disease or Syndrome
Early-onset multiple carboxylase deficiency, or holocarboxylase deficiency, is an autosomal recessive disorder of biotin metabolism. See also late-onset or juvenile MCD (253260) caused by mutation in the biotinidase gene (BTD; 609019). Sweetman (1981) recognized that multiple carboxylase deficiency could be classified into early and late forms. The early form showed higher urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxypropionic acid than the late form and was associated with normal plasma biotin concentrations. Sweetman (1981) proposed a defect in holocarboxylase synthetase and intestinal biotin absorption, respectively. Care must be taken to differentiate the inherited multiple carboxylase deficiencies from acquired biotin deficiencies, such as those that develop after excessive dietary intake of avidin, an egg-white glycoprotein that binds specifically and essentially irreversibly to biotin (Sweetman et al., 1981) or prolonged parenteral alimentation without supplemental biotin (Mock et al., 1981).
Chondrodysplasia punctata 2 X-linked dominant
MedGen UID:
79381
Concept ID:
C0282102
Disease or Syndrome
The findings in X-linked chondrodysplasia punctata 2 (CDPX2) range from fetal demise with multiple malformations and severe growth retardation to much milder manifestations, including adults with no recognizable physical abnormalities. At least 95% of liveborn individuals with CDPX2 are female with the following findings: Growth deficiency/short stature. Distinctive craniofacial appearance . Skeletal changes: stippling (chondrodysplasia punctate) on x-rays of the epiphyses of the long bones and vertebrae, the trachea and distal ends of the ribs seen in children prior to completion of normal epiphyseal ossification; rhizomelic (i.e., proximal) shortening of limbs that is often asymmetric; scoliosis. Ectodermal changes: linear or blotchy scaling ichthyosis in the newborn that usually resolves in the first months of life leaving linear or whorled atrophic patches involving hair follicles (follicular atrophoderma); coarse hair with scarring alopecia; occasional flattened or split nails; normal teeth. Ocular changes: cataracts; microphthalmia and/or microcornea. Intellect is usually normal. Rarely affected males have been identified with a phenotype that includes: hypotonia; moderate to profound developmental delay; seizures; cerebellar (primarily vermis) hypoplasia and/or Dandy-Walker variant; and agenesis of the corpus callosum.
Cronkhite-Canada syndrome
MedGen UID:
129128
Concept ID:
C0282207
Disease or Syndrome
Cronkhite-Canada syndrome is characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea. It is associated with high morbidity (summary by Sweetser et al., 2012).
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities
MedGen UID:
83337
Concept ID:
C0342286
Congenital Abnormality
Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia resulting in progressive dystonia, spasticity, parkinsonism, neuropsychiatric abnormalities, and optic atrophy or retinal degeneration. Ten types and their associated genes are recognized. The age of onset ranges from infancy to late adulthood; the rate of progression varies. Cognitive decline occurs in some subtypes, but more often cognition is relatively spared. Cerebellar atrophy is a frequent finding in some subtypes.
Flynn-Aird syndrome
MedGen UID:
91009
Concept ID:
C0343108
Congenital Abnormality
Hereditary hemochromatosis
MedGen UID:
140272
Concept ID:
C0392514
Disease or Syndrome
HFE-associated hereditary hemochromatosis (HFE-HH) is characterized by inappropriately high absorption of iron by the gastrointestinal mucosa. The phenotypic spectrum of HFE-HH is now recognized to include Those with clinical HFE-HH, in which manifestations of end-organ damage secondary to iron storage are present; Those with biochemical HFE-HH, in which the only evidence of iron overload is increased transferrin-iron saturation and increased serum ferritin concentration; and Non-expressing p.Cys282Tyr homozygotes in whom neither clinical manifestations of HFE-HH nor iron overload are present. Clinical HFE-HH is characterized by excessive storage of iron in the liver, skin, pancreas, heart, joints, and testes. In untreated individuals: early symptoms may include abdominal pain, weakness, lethargy, and weight loss; the risk of cirrhosis is significantly increased when the serum ferritin is higher than 1,000 ng/mL; other findings may include progressive increase in skin pigmentation, diabetes mellitus, congestive heart failure and/or arrhythmias, arthritis, and hypogonadism. Clinical HFE-HH is more common in men than women.
Wrinkly skin syndrome
MedGen UID:
98030
Concept ID:
C0406587
Disease or Syndrome
ATP6V0A2-related cutis laxa, also known as autosomal recessive cutis laxa type 2A (ARCL2A), spans a phenotypic spectrum that includes Debré-type cutis laxa at the severe end and wrinkly skin syndrome at the mild end. Affected individuals have furrowing of the skin of the whole body that improves with time. They may have other evidence of a generalized connective disorder, including enlarged anterior fontanelle in infancy, congenital dislocation of the hips, inguinal hernias, and high myopia. In most (not all) affected individuals, cortical and cerebellar malformations are present and are associated with severe developmental delays, seizures, and neurologic regression.
Encephalocraniocutaneous lipomatosis
MedGen UID:
140807
Concept ID:
C0406612
Congenital Abnormality
Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system anomalies (Moog et al., 2007).
Odontotrichomelic syndrome
MedGen UID:
98034
Concept ID:
C0406723
Congenital Abnormality
The GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy (Tipton and Gorlin, 1984). Ilker et al. (1999) noted that optic atrophy is not a consistent feature of this disorder.
Mandibuloacral dysostosis
MedGen UID:
98485
Concept ID:
C0432291
Congenital Abnormality
Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009). See also MAD type B (MADB; 608612), which is caused by mutation in the ZMPSTE24 gene (606480).
Beaded hair
MedGen UID:
108185
Concept ID:
C0546966
Congenital Abnormality
Individuals with monilethrix have normal hair at birth, but within the first few months of life develop fragile, brittle hair that tends to fracture and produce varying degrees of dystrophic alopecia. In the mildest forms, only the occipital regions of the scalp are involved; however, in severe forms the eyebrows, eyelashes, and secondary sexual hair may also be involved. Follicular hyperkeratosis with predilection for the scalp, nape of neck, and extensor surfaces of the upper arm and thighs is also a characteristic finding in these patients. Light microscopic examination is diagnostic and reveals elliptical nodes of normal thickness and intermittent constrictions (internodes) at which the hair easily breaks. There may be spontaneous improvement with time, especially during puberty and pregnancy, but the condition never resolves completely (summary by Zlotogorski et al., 2006). An autosomal recessive form of monilethrix-like congenital hypotrichosis (see 607903) is caused by mutation in the DSG4 gene (607892). The clinical picture of autosomal recessive monilethrix is more severe than the dominant form, with more extensive alopecia of the scalp, body, and limbs, and a papular rash involving the extremities and periumbilical region (Zlotogorski et al., 2006). The term monilethrix derives from the Latin word for necklace and the Greek for hair (Schweizer, 2006).
Alopecia contractures dwarfism mental retardation
MedGen UID:
167081
Concept ID:
C0795895
Disease or Syndrome
A syndrome of total absence of hair, extreme growth failure, mental retardation, and multiple craniofacial, skeletal, and other abnormalities.
ALOPECIA-EPILEPSY-OLIGOPHRENIA SYNDROME OF MOYNAHAN
MedGen UID:
208646
Concept ID:
C0795901
Disease or Syndrome
Gomez Lopez Hernandez syndrome
MedGen UID:
163201
Concept ID:
C0795959
Disease or Syndrome
Cerebellotrigeminal dermal dysplasia, also known as Gomez-Lopez-Hernandez (GLH) syndrome, is a rare neurocutaneous syndrome classically characterized by the triad of rhombencephalosynapsis, trigeminal anesthesia, often giving rise to corneal opacities, and bilateral parietal or parietooccipital alopecia, However, trigeminal anesthesia is an inconsistent finding (summary by Sukhudyan et al., 2010).
Johnson neuroectodermal syndrome
MedGen UID:
167092
Concept ID:
C0796002
Disease or Syndrome
A syndrome with variable expressivity characterized by alopecia with mild facial asymmetry and micrognathia which give the face its characteristic features, ear abnormalities with hearing loss, loss of the sense of smell, hypogonadism, dental caries, and occasional mental deficiency.
Oculocerebrocutaneous syndrome
MedGen UID:
163214
Concept ID:
C0796092
Disease or Syndrome
Orbital cysts and other eye defects, multiple cerebral anomalies, and focal dermal defects are the principal characteristics of this syndrome.
Rosselli-Gulienetti syndrome
MedGen UID:
163221
Concept ID:
C0796139
Disease or Syndrome
A syndrome of anhidrosis-hypotrichosis, pili torti, microdontia, nail dysplasia, cleft lip/palate, urogenital abnormalities, and mental retardation.
Dyskeratosis congenita X-linked
MedGen UID:
216941
Concept ID:
C1148551
Disease or Syndrome
Dyskeratosis congenita (DC), a telomere biology disorder, is characterized by a classic triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia. However, the classic triad may not be present in all individuals. People with DC are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML), solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include: abnormal pigmentation changes not restricted to the upper chest and neck, eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), and dental abnormalities (caries, periodontal disease, taurodauntism). Although most persons with DC have normal psychomotor development and normal neurologic function, significant developmental delay is present in the two variants in which additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome). Onset and progression of manifestations of DC vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
Hereditary mucoepithelial dysplasia
MedGen UID:
220887
Concept ID:
C1274795
Congenital Abnormality
Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant genodermatosis characterized by onset in infancy of a panepithelial defect involving the oral, nasal, conjunctival, vaginal, cervical, perineal, urethral, and bladder mucosa. Patients develop cataracts, blindness, nonscarring alopecia, perineal psoriasiform lesions, and follicular keratoses (Witkop et al., 1982). Although 1 family was reported to have progressive severe interstitial lung disease (Witkop et al., 1979), this feature has not been reported in other families and is not considered a criterion for diagnosis (review by Boralevi et al., 2005).
Autosomal recessive keratitis-ichthyosis-deafness syndrome
MedGen UID:
224809
Concept ID:
C1275089
Disease or Syndrome
Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss. People with KID syndrome usually have keratitis, which is inflammation of the front surface of the eye (the cornea). The keratitis may cause pain, increased sensitivity to light (photophobia), abnormal blood vessel growth over the cornea (neovascularization), and scarring. Over time, affected individuals experience a loss of sharp vision (reduced visual acuity); in severe cases the keratitis can lead to blindness. Most people with KID syndrome have thick, hard skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). Affected individuals also have thick, reddened patches of skin (erythrokeratoderma) that are dry and scaly (ichthyosis). These dry patches can occur anywhere on the body, although they most commonly affect the neck, groin, and armpits. Breaks in the skin often occur and may lead to infections. In severe cases these infections can be life-threatening, especially in infancy. Approximately 12 percent of people with KID syndrome develop a type of skin cancer called squamous cell carcinoma, which may also affect mucous membranes such as the lining of the mouth. Partial hair loss is a common feature of KID syndrome, and often affects the eyebrows and eyelashes. Affected individuals may also have small, abnormally formed nails. Hearing loss in this condition is usually profound, but occasionally is less severe.
Oral-facial-digital syndrome
MedGen UID:
307142
Concept ID:
C1510460
Disease or Syndrome
Oral-facial-digital syndrome type I (OFD1) is associated with dysfunction of primary cilia and is characterized by the following abnormalities: Oral (lobed tongue, hamartomas or lipomas of the tongue, cleft of the hard or soft palate, accessory gingival frenulae, hypodontia, and other dental abnormalities). Facial (widely spaced eyes or telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft upper lip, micrognathia) . Digital (brachydactyly, syndactyly of varying degrees, and clinodactyly of the fifth finger; duplicated hallux [great toe]; preaxial or postaxial polydactyly of the hands). Brain (intracerebral cysts, corpus callosum agenesis, cerebellar agenesis with or without Dandy-Walker malformation) . Kidney (polycystic kidney disease). As many as 50% of individuals with OFD1 have some degree of intellectual disability, which is usually mild. Almost all affected individuals are female. However, males with OFD1 have been described, mostly as malformed fetuses delivered by women with OFD1.
Histiocytic medullary reticulosis
MedGen UID:
321464
Concept ID:
C1801959
Neoplastic Process
An autosomal recessive combined immunodeficiency syndrome caused by mutations in the RAG-1 and RAG-2 genes. It is characterized by the presence of alopecia, erythroderma, desquamation, lymphadenopathy, and chronic diarrhea.
Alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism
MedGen UID:
321990
Concept ID:
C1832593
Disease or Syndrome
Orofacial cleft 7
MedGen UID:
371589
Concept ID:
C1833538
Disease or Syndrome
PARC syndrome
MedGen UID:
373923
Concept ID:
C1838256
Disease or Syndrome
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
MedGen UID:
325051
Concept ID:
C1838577
Disease or Syndrome
CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy) is characterized by early-onset changes in the deep white matter of the brain observed on MRI and associated neurologic findings. The most frequent initial symptom is gait disturbance from spasticity beginning between ages 20 and 30 years. Twenty-three percent of affected individuals have stroke-like episodes before age 40 years. Mood changes (apathy and irritability), pseudobulbar palsy, and cognitive dysfunction begin between ages 20 and 50 years. The disease progresses slowly over the five to 20 years following the onset of neurologic symptoms. Scalp alopecia before age 30 years and acute mid- to lower-back pain (lumbago) with onset between ages ten and 40 years are characteristic.
Keratosis follicularis dwarfism and cerebral atrophy
MedGen UID:
374340
Concept ID:
C1839910
Disease or Syndrome
IFAP syndrome with or without BRESHECK syndrome
MedGen UID:
327007
Concept ID:
C1839988
Disease or Syndrome
The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome (summary by Naiki et al., 2012).
Hypotrichosis-lymphedema-telangiectasia syndrome
MedGen UID:
375070
Concept ID:
C1843004
Disease or Syndrome
Skin fragility woolly hair syndrome
MedGen UID:
375148
Concept ID:
C1843292
Disease or Syndrome
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
MedGen UID:
334382
Concept ID:
C1843355
Disease or Syndrome
Thymoma, familial
MedGen UID:
376447
Concept ID:
C1848814
Neoplastic Process
Thymomas are low-grade epithelial cancers of the thymus. Familial occurrence of thymoma is rare.
Robinow syndrome, autosomal recessive
MedGen UID:
341431
Concept ID:
C1849334
Disease or Syndrome
ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature with growth retardation, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood.
Keratoderma palmoplantaris transgrediens
MedGen UID:
343580
Concept ID:
C1851479
Disease or Syndrome
Greither Disease
MedGen UID:
338702
Concept ID:
C1851480
Disease or Syndrome
Ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet
MedGen UID:
342107
Concept ID:
C1851851
Disease or Syndrome
Dyskeratosis congenita autosomal dominant
MedGen UID:
338831
Concept ID:
C1851970
Disease or Syndrome
Dyskeratosis congenita (DC), a telomere biology disorder, is characterized by a classic triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia. However, the classic triad may not be present in all individuals. People with DC are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML), solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include: abnormal pigmentation changes not restricted to the upper chest and neck, eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), and dental abnormalities (caries, periodontal disease, taurodauntism). Although most persons with DC have normal psychomotor development and normal neurologic function, significant developmental delay is present in the two variants in which additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome). Onset and progression of manifestations of DC vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
Deafness-craniofacial syndrome
MedGen UID:
342201
Concept ID:
C1852278
Disease or Syndrome
Multiple Carboxylase Deficiency, Juvenile-Onset
MedGen UID:
381477
Concept ID:
C1854698
Disease or Syndrome
Keutel syndrome
MedGen UID:
383722
Concept ID:
C1855607
Disease or Syndrome
Ichthyosis alopecia eclabion ectropion mental retardation
MedGen UID:
344577
Concept ID:
C1855788
Disease or Syndrome
Self-healing collodion baby
MedGen UID:
383772
Concept ID:
C1855789
Disease or Syndrome
Polyglandular Deficiency Syndrome, Persian-Jewish Type
MedGen UID:
340990
Concept ID:
C1855868
Disease or Syndrome
Autoimmune polyglandular syndrome type 1, autosomal dominant
MedGen UID:
340991
Concept ID:
C1855869
Disease or Syndrome
Autoimmune polyglandular syndrome, type 1 is an inherited condition that affects many of the body's organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the body's tissues and organs by mistake. In most cases, the signs and symptoms of autoimmune polyglandular syndrome, type 1 begin in childhood or adolescence. This condition is characterized by three specific features: mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected individuals typically have at least two of these features, and many have all three. Mucocutaneous candidiasis is a fungal infection that affects the skin and mucous membranes, such as the moist lining of the nose and mouth. In children with autoimmune polyglandular syndrome, type 1, these infections last a long time and tend to recur. Many affected children also develop hypoparathyroidism, which is a malfunction of the parathyroid glands. These glands secrete a hormone that regulates the body's use of calcium and phosphorus. Hypoparathyroidism can cause a tingling sensation in the lips, fingers, and toes; muscle pain and cramping; weakness; and fatigue. The third major feature, Addison disease, results from a malfunction of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, muscle weakness, loss of appetite, weight loss, low blood pressure, and changes in skin coloring. Autoimmune polyglandular syndrome, type 1 can cause a variety of additional signs and symptoms, although they occur less often. Complications of this disorder can affect the skin and nails, the gonads (ovaries and testicles), the eyes, a butterfly-shaped gland at the base of the neck called the thyroid, and the digestive system. Type 1 diabetes also occurs in some patients with this condition.
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
MedGen UID:
347335
Concept ID:
C1856936
Disease or Syndrome
Epidermolysis bullosa simplex with muscular dystrophy is an autosomal recessive disorder characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes (Fine et al., 1989). Fine et al. (1991) reported a revised classification of the subtypes of inherited epidermolysis bullosa. In reports of 2 consensus meetings on EB, Fine et al. (2000, 2008) referred to EB with muscular dystrophy due to PLEC1 mutations as a form of basal simplex EB. Fine et al. (2000, 2008) also eliminated the term 'hemidesmosomal,' which had previously been proposed for this entity (Uitto et al., 1997) because ultrastructural analysis can demonstrate tissue abnormalities of the hemidesmosomes.
CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 7
MedGen UID:
341680
Concept ID:
C1857043
Disease or Syndrome
Schopf-Schulz-Passarge syndrome
MedGen UID:
347366
Concept ID:
C1857069
Disease or Syndrome
Ectodermal dysplasia skin fragility syndrome
MedGen UID:
388032
Concept ID:
C1858302
Disease or Syndrome
Rhizomelic chondrodysplasia punctata type 1
MedGen UID:
347072
Concept ID:
C1859133
Disease or Syndrome
Rhizomelic chondrodysplasia punctata type 1 (RCDP1) classic type, a peroxisome biogenesis disorder (PBD), is characterized by proximal shortening of the humerus and to a lesser degree the femur (rhizomelia), punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata, or CDP), coronal clefts of the vertebral bodies, and cataracts that are usually present at birth or appear in the first few months of life. Birth weight, length, and head circumference are often at the lower range of normal; postnatal growth deficiency is profound. Intellectual disability is severe, and the majority of children develop seizures. Most affected children do not survive the first decade of life; a proportion die in the neonatal period. A milder phenotype in which all affected individuals have congenital cataracts and chondrodysplasia is now recognized; some do not have rhizomelia, and some have less severe intellectual disability and growth deficiency.
Cerebellar ataxia ectodermal dysplasia
MedGen UID:
347850
Concept ID:
C1859306
Disease or Syndrome
Celiac disease 1
MedGen UID:
395227
Concept ID:
C1859310
Disease or Syndrome
3-methylcrotonyl CoA carboxylase 2 deficiency
MedGen UID:
347898
Concept ID:
C1859499
Disease or Syndrome
The term "organic acidemia" or "organic aciduria" (OA) applies to a group of disorders characterized by the excretion of non-amino organic acids in urine. Most organic acidemias result from dysfunction of a specific step in amino acid catabolism, usually the result of deficient enzyme activity. The majority of the classic organic acid disorders are caused by abnormal amino acid catabolism of branched-chain amino acids or lysine. They include maple syrup urine disease (MSUD), propionic acidemia, methylmalonic acidemia (MMA), methylmalonic aciduria and homocystinuria, isovaleric acidemia, biotin-unresponsive 3-methylcrotonyl-CoA carboxylase deficiency, 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency, ketothiolase deficiency, and glutaricacidemia type I (GA I). A neonate affected with an OA is usually well at birth and for the first few days of life. The usual clinical presentation is that of toxic encephalopathy and includes vomiting, poor feeding, neurologic symptoms such as seizures and abnormal tone, and lethargy progressing to coma. Outcome is enhanced by diagnosis and treatment in the first ten days of life. In the older child or adolescent, variant forms of the OAs can present as loss of intellectual function, ataxia or other focal neurologic signs, Reye syndrome, recurrent ketoacidosis, or psychiatric symptoms.
ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE
MedGen UID:
348026
Concept ID:
C1860120
Disease or Syndrome
Trichodysplasia-xeroderma
MedGen UID:
349898
Concept ID:
C1860822
Disease or Syndrome
Thumb deformity and alopecia
MedGen UID:
348284
Concept ID:
C1861168
Disease or Syndrome
Alopecia, epilepsy, pyorrhea, mental subnormality
MedGen UID:
350833
Concept ID:
C1863090
Disease or Syndrome
Alopecia congenita keratosis palmoplantaris
MedGen UID:
354901
Concept ID:
C1863093
Disease or Syndrome
In a review of ectodermal dysplasia syndromes characterized by palmoplantar keratoderma (PPK) and congenital alopecia, Castori et al. (2010) suggested that there are 2 main types of unclassified syndromes that combine these 2 features. A more severe recessive disorder (212360) shows progressive hyperkeratosis resulting in sclerosis, severe contractures and tapering of the digits, and pseudoainhum formation. The less severe autosomal dominant disorder, described here, does not have significant hand complications, although keratosis is present.
Epidermolysis bullosa, lethal acantholytic
MedGen UID:
400622
Concept ID:
C1864826
Disease or Syndrome
Ectodermal dysplasia, 'pure' hair-nail type
MedGen UID:
400883
Concept ID:
C1865951
Disease or Syndrome
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.
T-cell immunodeficiency, congenital alopecia and nail dystrophy
MedGen UID:
355713
Concept ID:
C1866426
Disease or Syndrome
T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which is a group of disorders characterized by an almost total lack of immune protection from foreign invaders such as bacteria and viruses. People with this form of SCID are missing functional immune cells called T cells, which normally recognize and attack foreign invaders to prevent infection. Without functional T cells, affected individuals develop repeated and persistent infections starting early in life. The infections result in slow growth and can be life-threatening; without effective treatment, most affected individuals live only into infancy or early childhood. T-cell immunodeficiency, congenital alopecia, and nail dystrophy also affects growth of the hair and nails. Congenital alopecia refers to an absence of hair that is apparent from birth. Affected individuals have no scalp hair, eyebrows, or eyelashes. Nail dystrophy is a general term that describes malformed fingernails and toenails; in this condition, the nails are often ridged, pitted, or abnormally curved. Researchers have described abnormalities of the brain and spinal cord (central nervous system) in at least two cases of this condition. However, it is not yet known whether central nervous system abnormalities are a common feature of T-cell immunodeficiency, congenital alopecia, and nail dystrophy.
Arthrogryposis and ectodermal dysplasia
MedGen UID:
355714
Concept ID:
C1866427
Disease or Syndrome
Temporal arteritis
MedGen UID:
365495
Concept ID:
C1956391
Disease or Syndrome
An autoimmune, systemic, giant cell granulomatous arteritis predominantly involving the arteries that supply blood to the central nervous system, head and eyes. Superficial arteries of the scalp that are involved tend to be enlarged and tender. Signs and symptoms include headaches, myalgias, visual disturbances, and skin necrosis.
Aplasia Cutis Congenita, Congenital Heart Defect, And Frontonasal Cysts
MedGen UID:
370187
Concept ID:
C1970140
Disease or Syndrome
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL
MedGen UID:
388638
Concept ID:
C2673440
Disease or Syndrome
Hypergonadotropic hypogonadism and partial alopecia
MedGen UID:
388650
Concept ID:
C2673480
Disease or Syndrome
Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant
MedGen UID:
382144
Concept ID:
C2673611
Disease or Syndrome
Epidermolysis bullosa dystrophica inversa, autosomal recessive
MedGen UID:
435963
Concept ID:
C2673612
Disease or Syndrome
Alopecia, neurologic defects, and endocrinopathy syndrome
MedGen UID:
394313
Concept ID:
C2677535
Disease or Syndrome
Deficiency of Uroporphyrinogen III Synthase
MedGen UID:
404701
Concept ID:
C2718078
Disease or Syndrome
Keratosis follicularis spinulosa decalvans, autosomal dominant
MedGen UID:
412573
Concept ID:
C2748527
Disease or Syndrome
Keratosis follicularis spinulosa decalvans (KFSD) is an uncommon genodermatosis characterized by follicular hyperkeratosis, progressive cicatricial alopecia, and photophobia. Most reported cases show X-linked inheritance (KFSDX; 308800) (Castori et al., 2009).
Vitamin d-dependent rickets, type 2b, with normal vitamin d receptor
MedGen UID:
411667
Concept ID:
C2748783
Disease or Syndrome
Vitamin D-dependent rickets type 2B with normal vitamin D receptor (VDDR2B) is an unusual form of rickets due to abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor. Vitamin D-dependent rickets type 2A (VDDR2A) is caused by mutation in the vitamin D receptor gene (VDR; 601769), and most patients have alopecia in addition to rickets. For a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; 264700).
Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia
MedGen UID:
440830
Concept ID:
C2749602
Disease or Syndrome
Autoimmune polyglandular syndrome, type 1 is an inherited condition that affects many of the body's organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the body's tissues and organs by mistake. In most cases, the signs and symptoms of autoimmune polyglandular syndrome, type 1 begin in childhood or adolescence. This condition is characterized by three specific features: mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected individuals typically have at least two of these features, and many have all three. Mucocutaneous candidiasis is a fungal infection that affects the skin and mucous membranes, such as the moist lining of the nose and mouth. In children with autoimmune polyglandular syndrome, type 1, these infections last a long time and tend to recur. Many affected children also develop hypoparathyroidism, which is a malfunction of the parathyroid glands. These glands secrete a hormone that regulates the body's use of calcium and phosphorus. Hypoparathyroidism can cause a tingling sensation in the lips, fingers, and toes; muscle pain and cramping; weakness; and fatigue. The third major feature, Addison disease, results from a malfunction of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, muscle weakness, loss of appetite, weight loss, low blood pressure, and changes in skin coloring. Autoimmune polyglandular syndrome, type 1 can cause a variety of additional signs and symptoms, although they occur less often. Complications of this disorder can affect the skin and nails, the gonads (ovaries and testicles), the eyes, a butterfly-shaped gland at the base of the neck called the thyroid, and the digestive system. Type 1 diabetes also occurs in some patients with this condition.
Progeria Syndrome, Childhood-Onset
MedGen UID:
442435
Concept ID:
C2750285
Disease or Syndrome
Marie Unna hereditary hypotrichosis 1
MedGen UID:
413053
Concept ID:
C2750815
Disease or Syndrome
Candidiasis, familial, 1
MedGen UID:
414015
Concept ID:
C2751429
Disease or Syndrome
Chronic mucocutaneous candidiasis (CMC) includes a group of rare disorders with altered immune responses, selective against Candida, characterized by persistent and/or recurrent infections of the skin, nails, and mucous membranes, caused by organisms of the genus Candida, mainly Candida albicans (Zuccarello et al., 2002). Isolated familial chronic mucocutaneous candidiasis is distinct from candidiasis with endocrinopathy (240300). In myeloperoxidase deficiency (254600), susceptibility to candidiasis may be increased. Genetic Heterogeneity of Candidiasis This form of autosomal dominant candidiasis (CANDF1) maps to chromosome 2p. CANDF2 (212050) is caused by mutation in the CARD9 gene (607212) on chromosome 9q34.3. CANDF3 (607644), a form restricted to nails of the hands and feet, map to chromosome 11. CANDF4 (613108) is caused by mutation in the CLEC7A gene (606264) on chromosome 12p13.2-p12.3. CANDF5 (613953) is caused by mutation in the IL17RA gene (605461) on chromosome 22q11. CANDF6 (613956) is caused by mutation in the IL17F gene (606496) on chromosome 6p12. CANDF7 (614162) is caused by mutation in the STAT1 gene (600555) on chromosome 2q32.2-q32.3. CANDF8 (615527) is caused by mutation in the TRAF3IP2 gene (607043) on chromosome 6q21.
Incontinentia pigmenti, familial male-lethal type
MedGen UID:
443905
Concept ID:
C2930820
Disease or Syndrome
Epidermolysa bullosa simplex and limb girdle muscular dystrophy
MedGen UID:
418981
Concept ID:
C2931072
Disease or Syndrome
Bustos Simosa Pinto Cisternas syndrome
MedGen UID:
444067
Concept ID:
C2931488
Disease or Syndrome
Chondrodysplasia punctata 2, X-linked dominant
MedGen UID:
444155
Concept ID:
C2931843
Disease or Syndrome
Reticuloendotheliosis, familial, with eosinophilia
MedGen UID:
419189
Concept ID:
C2931884
Disease or Syndrome
Frontonasal dysplasia 2
MedGen UID:
462053
Concept ID:
C3150703
Disease or Syndrome
Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widow's peak hairline. Other features of frontonasal dysplasia can include additional facial malformations, absence or malformation of the tissue that connects the left and right halves of the brain (the corpus callosum), and intellectual disability. There are at least three types of frontonasal dysplasia that are distinguished by their genetic causes and their signs and symptoms. In addition to the features previously described, each type of frontonasal dysplasia is associated with other distinctive features. Individuals with frontonasal dysplasia type 1 typically have abnormalities of the nose, a long area between the nose and upper lip (philtrum), and droopy upper eyelids (ptosis). Individuals with frontonasal dysplasia type 2 can have hair loss (alopecia) and an enlarged opening in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). Males with this form of the condition often have genital abnormalities. Features of frontonasal dysplasia type 3 include eyes that are missing (anophthalmia) or very small (microphthalmia) and low-set ears that are rotated backward. Frontonasal dysplasia type 3 is typically associated with the most severe facial abnormalities, but the severity of the condition varies widely, even among individuals with the same type. Life expectancy of affected individuals depends on the severity of the malformations and whether or not surgical intervention can improve associated health problems, such as breathing and feeding problems caused by the facial clefts.
Chromosome 17q11.2 deletion syndrome, 1.4-mb
MedGen UID:
462278
Concept ID:
C3150928
Disease or Syndrome
Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003).
Dyskeratosis congenita, autosomal dominant, 3
MedGen UID:
462795
Concept ID:
C3151445
Disease or Syndrome
Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by Savage et al., 2008). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 (127550).
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA, AUTOSOMAL DOMINANT
MedGen UID:
462818
Concept ID:
C3151468
Disease or Syndrome
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS
MedGen UID:
462959
Concept ID:
C3151609
Disease or Syndrome
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY
MedGen UID:
462960
Concept ID:
C3151610
Disease or Syndrome
IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME
MedGen UID:
477210
Concept ID:
C3275579
Disease or Syndrome
Cutaneous telangiectasia and cancer syndrome, familial
MedGen UID:
482833
Concept ID:
C3281203
Neoplastic Process
Patients with this syndrome develop cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well (Tanaka et al., 2012).
Alopecia, Androgenetic, 1
MedGen UID:
488439
Concept ID:
C3494490
Disease or Syndrome
NF1 microduplication syndrome
MedGen UID:
501218
Concept ID:
C3495679
Disease or Syndrome
Ichthyosis Congenita II
MedGen UID:
760723
Concept ID:
C3536797
Disease or Syndrome
ICHTHYOSIS WITH ALOPECIA, ECLABIUM, ECTROPION, AND MENTAL RETARDATION
MedGen UID:
763379
Concept ID:
C3550465
Disease or Syndrome

Recent clinical studies

Etiology

Dlova NC, Jordaan FH, Sarig O, Sprecher E
J Am Acad Dermatol 2014 Apr;70(4):679-682.e1. Epub 2014 Jan 27 doi: 10.1016/j.jaad.2013.11.035. [Epub ahead of print] PMID: 24480456
Gubelin Harcha W, Barboza Martínez J, Tsai TF, Katsuoka K, Kawashima M, Tsuboi R, Barnes A, Ferron-Brady G, Chetty D
J Am Acad Dermatol 2014 Mar;70(3):489-498.e3. Epub 2014 Jan 9 doi: 10.1016/j.jaad.2013.10.049. [Epub ahead of print] PMID: 24411083
Choi M, Kim MS, Park SY, Park GH, Jo SJ, Cho KH, Lee JW, Park KD, Shin HY, Kang HJ, Kwon O
J Am Acad Dermatol 2014 Mar;70(3):499-505. Epub 2013 Dec 16 doi: 10.1016/j.jaad.2013.10.034. [Epub ahead of print] PMID: 24355411
Yang CC, Hsieh FN, Lin LY, Hsu CK, Sheu HM, Chen W
J Am Acad Dermatol 2014 Feb;70(2):297-302.e1. Epub 2013 Nov 1 doi: 10.1016/j.jaad.2013.09.036. [Epub ahead of print] PMID: 24184140
Ye Y, Zhao Y, Gong Y, Zhang X, Caulloo S, Zhang B, Cai Z, Yang J, McElwee KJ, Zhang X
Lupus 2013 Dec;22(14):1439-45. Epub 2013 Oct 16 doi: 10.1177/0961203313508833. [Epub ahead of print] PMID: 24132518

Diagnosis

Béné J, Moulis G, Auffret M, Lefevre G, Coquerelle P, Coupe P, Péré P, Gautier S
Rheumatology (Oxford) 2014 Aug;53(8):1465-9. Epub 2014 Mar 27 doi: 10.1093/rheumatology/keu145. [Epub ahead of print] PMID: 24681837
Castelo-Soccio L
Pediatr Clin North Am 2014 Apr;61(2):427-42. Epub 2014 Jan 21 doi: 10.1016/j.pcl.2013.12.002. [Epub ahead of print] PMID: 24636654
Dlova NC, Jordaan FH, Sarig O, Sprecher E
J Am Acad Dermatol 2014 Apr;70(4):679-682.e1. Epub 2014 Jan 27 doi: 10.1016/j.jaad.2013.11.035. [Epub ahead of print] PMID: 24480456
Gubelin Harcha W, Barboza Martínez J, Tsai TF, Katsuoka K, Kawashima M, Tsuboi R, Barnes A, Ferron-Brady G, Chetty D
J Am Acad Dermatol 2014 Mar;70(3):489-498.e3. Epub 2014 Jan 9 doi: 10.1016/j.jaad.2013.10.049. [Epub ahead of print] PMID: 24411083
Yang CC, Hsieh FN, Lin LY, Hsu CK, Sheu HM, Chen W
J Am Acad Dermatol 2014 Feb;70(2):297-302.e1. Epub 2013 Nov 1 doi: 10.1016/j.jaad.2013.09.036. [Epub ahead of print] PMID: 24184140

Therapy

Béné J, Moulis G, Auffret M, Lefevre G, Coquerelle P, Coupe P, Péré P, Gautier S
Rheumatology (Oxford) 2014 Aug;53(8):1465-9. Epub 2014 Mar 27 doi: 10.1093/rheumatology/keu145. [Epub ahead of print] PMID: 24681837
Rossi A, Calvieri S
G Ital Dermatol Venereol 2014 Feb;149(1):103-6. PMID: 24566570
Piraccini BM, Alessandrini A
G Ital Dermatol Venereol 2014 Feb;149(1):15-24. PMID: 24566563
Gubelin Harcha W, Barboza Martínez J, Tsai TF, Katsuoka K, Kawashima M, Tsuboi R, Barnes A, Ferron-Brady G, Chetty D
J Am Acad Dermatol 2014 Mar;70(3):489-498.e3. Epub 2014 Jan 9 doi: 10.1016/j.jaad.2013.10.049. [Epub ahead of print] PMID: 24411083
Choi M, Kim MS, Park SY, Park GH, Jo SJ, Cho KH, Lee JW, Park KD, Shin HY, Kang HJ, Kwon O
J Am Acad Dermatol 2014 Mar;70(3):499-505. Epub 2013 Dec 16 doi: 10.1016/j.jaad.2013.10.034. [Epub ahead of print] PMID: 24355411

Prognosis

Piraccini BM, Alessandrini A
G Ital Dermatol Venereol 2014 Feb;149(1):15-24. PMID: 24566563
Dlova NC, Jordaan FH, Sarig O, Sprecher E
J Am Acad Dermatol 2014 Apr;70(4):679-682.e1. Epub 2014 Jan 27 doi: 10.1016/j.jaad.2013.11.035. [Epub ahead of print] PMID: 24480456
Gubelin Harcha W, Barboza Martínez J, Tsai TF, Katsuoka K, Kawashima M, Tsuboi R, Barnes A, Ferron-Brady G, Chetty D
J Am Acad Dermatol 2014 Mar;70(3):489-498.e3. Epub 2014 Jan 9 doi: 10.1016/j.jaad.2013.10.049. [Epub ahead of print] PMID: 24411083
Choi M, Kim MS, Park SY, Park GH, Jo SJ, Cho KH, Lee JW, Park KD, Shin HY, Kang HJ, Kwon O
J Am Acad Dermatol 2014 Mar;70(3):499-505. Epub 2013 Dec 16 doi: 10.1016/j.jaad.2013.10.034. [Epub ahead of print] PMID: 24355411
Ye Y, Zhao Y, Gong Y, Zhang X, Caulloo S, Zhang B, Cai Z, Yang J, McElwee KJ, Zhang X
Lupus 2013 Dec;22(14):1439-45. Epub 2013 Oct 16 doi: 10.1177/0961203313508833. [Epub ahead of print] PMID: 24132518

Clinical prediction guides

Vañó-Galván S, Molina-Ruiz AM, Serrano-Falcón C, Arias-Santiago S, Rodrigues-Barata AR, Garnacho-Saucedo G, Martorell-Calatayud A, Fernández-Crehuet P, Grimalt R, Aranegui B, Grillo E, Diaz-Ley B, Salido R, Pérez-Gala S, Serrano S, Moreno JC, Jaén P, Camacho FM
J Am Acad Dermatol 2014 Apr;70(4):670-8. Epub 2014 Feb 5 doi: 10.1016/j.jaad.2013.12.003. [Epub ahead of print] PMID: 24508293
Katikaneni R, Ponnapakkam T, Matsushita O, Sakon J, Gensure R
Anticancer Drugs 2014 Jan;25(1):30-8. doi: 10.1097/CAD.0b013e3283650bff. PMID: 24025564Free PMC Article
Bhatti HA, Basra MK, Patel GK
J Cosmet Dermatol 2013 Sep;12(3):223-31. doi: 10.1111/jocd.12047. PMID: 23992164
Fondell E, Fitzgerald KC, Falcone GJ, O'Reilly EJ, Ascherio A
Am J Epidemiol 2013 Oct 1;178(7):1146-9. Epub 2013 Aug 13 doi: 10.1093/aje/kwt096. [Epub ahead of print] PMID: 23942216Free PMC Article
Elston CA, Kazlouskaya V, Elston DM
J Am Acad Dermatol 2013 Aug;69(2):288-93. Epub 2013 May 14 doi: 10.1016/j.jaad.2013.02.030. [Epub ahead of print] PMID: 23683729

Recent systematic reviews

Gupta AK, Charrette A
J Dermatolog Treat 2014 Apr;25(2):156-61. Epub 2013 Jul 5 doi: 10.3109/09546634.2013.813011. [Epub ahead of print] PMID: 23768246
Saggar V, Wu S, Dickler MN, Lacouture ME
Oncologist 2013;18(10):1126-34. Epub 2013 Sep 13 doi: 10.1634/theoncologist.2013-0193. [Epub ahead of print] PMID: 24037977Free PMC Article
Komen MM, Smorenburg CH, van den Hurk CJ, Nortier JW
Oncologist 2013;18(7):885-91. Epub 2013 May 6 doi: 10.1634/theoncologist.2012-0332. [Epub ahead of print] PMID: 23650021Free PMC Article
Rácz E, Gho C, Moorman PW, Noordhoek Hegt V, Neumann HA
J Eur Acad Dermatol Venereol 2013 Dec;27(12):1461-70. Epub 2013 Mar 26 doi: 10.1111/jdv.12139. [Epub ahead of print] PMID: 23531029
Miteva M, Tosti A
Expert Opin Pharmacother 2012 Jun;13(9):1271-81. Epub 2012 May 17 doi: 10.1517/14656566.2012.685160. [Epub ahead of print] PMID: 22594679

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