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Hyperpigmentation of the skin

MedGen UID:
504657
Concept ID:
CN000892
Finding
Synonyms: Cutaneous hyperpigmentation; Increased skin pigmentation; Skin hyperpigmentation
 
HPO: HP:0000953

Definition

A darkening of the skin related to an increase in melanin production and deposition. [from HPO]

Conditions with this feature

Gardner syndrome
MedGen UID:
6547
Concept ID:
C0017097
Disease or Syndrome
A variant of familial adenomatous polyposis. It is an autosomal dominant syndrome characterized by multiple colonic polyps predisposing to carcinoma of the colon, osteomas of the skull, epidermoid cysts, and fibromas. It is associated with mutation of the APC gene.
Gaucher disease
MedGen UID:
42164
Concept ID:
C0017205
Disease or Syndrome
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.
Pigmentary pallidal degeneration
MedGen UID:
6708
Concept ID:
C0018523
Disease or Syndrome
Pantothenate kinase-associated neurodegeneration (PKAN) is a form of neurodegeneration with brain iron accumulation, or NBIA (formerly called Hallervorden-Spatz syndrome). PKAN is characterized by progressive dystonia and basal ganglia iron deposition with onset that usually occurs before age ten years. Commonly associated features include dysarthria, rigidity, and pigmentary retinopathy. Approximately 25% of affected individuals have an 'atypical' presentation with later onset (age >10 years), prominent speech defects, psychiatric disturbances, and more gradual progression of disease.
Adrenoleukodystrophy
MedGen UID:
57667
Concept ID:
C0162309
Disease or Syndrome
X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and the adrenal cortex. Three main phenotypes are seen in affected males: The childhood cerebral form manifests most commonly between ages four and eight years. It initially resembles attention deficit disorder or hyperactivity; progressive impairment of cognition, behavior, vision, hearing, and motor function follow the initial symptoms and often lead to total disability within two years. Adrenomyeloneuropathy (AMN) manifests most commonly in the late twenties as progressive paraparesis, sphincter disturbances, sexual dysfunction, and often, impaired adrenocortical function; all symptoms are progressive over decades. "Addison disease only" presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly AMN) usually develops later. Approximately 20% of females who are carriers develop neurologic manifestations that resemble AMN but have later onset (age =35 years) and milder disease than do affected males.
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).
Congenital hypoplasia of adrenal gland
MedGen UID:
65094
Concept ID:
C0220766
Congenital Abnormality
Gastrointestinal Stromal Tumors
MedGen UID:
116049
Concept ID:
C0238198
Neoplastic Process
Gastrointestinal stromal tumors are mesenchymal tumors found in the gastrointestinal tract that originate from the interstitial cells of Cajal, the pacemaker cells that regulate peristalsis in the digestive tract. Approximately 70% of GISTs develop in the stomach, 20% in the small intestine, and less than 10% in the esophagus, colon, and rectum. GISTs are typically more cellular than other gastrointestinal sarcomas. They occur predominantly in patients who are 40 to 70 years old but in rare cases may occur in younger persons (Miettinen et al., 1999, 1999). GISTs can also be seen in neurofibromatosis-1 (NF1; 162200) due to mutations in the NF1 gene, and are thus distinct from the GISTs described here. Sandberg and Bridge (2002) reviewed the cytogenetics and molecular genetics of gastrointestinal stromal tumors. Coffey et al. (2007) reviewed the clinical features, pathogenesis, and molecular treatments of Menetrier disease (137280) and GIST, both of which are hyperproliferative disorders of the stomach caused by dysregulated receptor tyrosine kinases.
Juvenile hemochromatosis
MedGen UID:
82769
Concept ID:
C0268060
Disease or Syndrome
Juvenile hemochromatosis is characterized by onset of severe iron overload occurring typically in the first to third decades of life. Males and females are equally affected. Prominent clinical features include hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. Hepatocellular cancer has not been reported. The main cause of death is cardiac disease. If juvenile hemochromatosis is detected early enough and if blood is removed regularly through the process of phlebotomy to achieve iron depletion, morbidity and mortality are greatly reduced.
Deficiency of steroid 11-beta-monooxygenase
MedGen UID:
82783
Concept ID:
C0268292
Disease or Syndrome
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension. The defect causes decreased synthesis of cortisol and corticosterone in the zona fasciculata of the adrenal gland, resulting in accumulation of the precursors 11-deoxycortisol and 11-deoxycorticosterone; the latter is a potent salt-retaining mineralocorticoid that leads to arterial hypertension (White et al., 1991). CAH due to 11-beta-hydroxylase deficiency accounts for approximately 5 to 8% of all CAH cases; approximately 90% of cases are caused by 21-hydroxylase deficiency (201910) (White et al., 1991).
Congenital primary adrenocortical hypofunction
MedGen UID:
78784
Concept ID:
C0271740
Congenital Abnormality
Glucocorticoid deficiency with achalasia
MedGen UID:
82889
Concept ID:
C0271742
Disease or Syndrome
Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and low blood sugar (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). Most people with triple A syndrome have all three of these features, although some have only two. Many of the features of triple A syndrome are caused by dysfunction of the autonomic nervous system. This part of the nervous system controls involuntary body processes such as digestion, blood pressure, and body temperature. People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia). People with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. Many of the neurological symptoms of triple A syndrome worsen over time. People with triple A syndrome frequently develop a thickening of the outer layer of skin (hyperkeratosis) on the palms of their hands and the soles of their feet. Other skin abnormalities may also be present in people with this condition. Alacrima is usually the first noticeable sign of triple A syndrome, as it becomes apparent early in life that affected children produce little or no tears while crying. They develop Addison disease and achalasia during childhood or adolescence, and most of the neurologic features of triple A syndrome begin during adulthood. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
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).
Congenital adrenal hypoplasia, X-linked
MedGen UID:
87442
Concept ID:
C0342482
Congenital Abnormality
X-linked adrenal hypoplasia congenita (X-linked AHC) is characterized by infantile-onset acute primary adrenal insufficiency at an average age of three weeks in approximately 60% of affected individuals. Onset in approximately 40% is in childhood. A few individuals present in adulthood with delayed-onset adrenal failure or partial hypogonadism due to partial forms of X-linked AHC. Adrenal insufficiency typically presents acutely in male infants with vomiting, feeding difficulty, dehydration, and shock caused by a salt-wasting episode. Hypoglycemia (sometimes presenting with seizures) or isolated salt loss may be the first symptom of X-linked AHC. Cortisol may be low or within the normal range, which is inappropriately low for a sick child. In older children, adrenal failure may be precipitated by intercurrent illness or stress. If untreated, adrenal insufficiency is rapidly lethal as a result of hyperkalemia, acidosis, hypoglycemia, and shock. Affected males typically have delayed puberty (onset age >14 years) or arrested puberty caused by hypogonadotropic hypogonadism (HH). Early pubertal development with pubertal arrest has been reported in some cases. Males with classic X-linked AHC are infertile despite treatment with exogenous gonadotropin therapy or pulsatile gonadotropin-releasing hormone (GnRH), although testicular sperm extraction-intracytoplasmic sperm injection (TESE-ICSI) has been successful in one case. Carrier females may very occasionally have symptoms of adrenal insufficiency or hypogonadotropic hypogonadism as a result of skewed X-chromosome inactivation.
Follicular atrophoderma and basal cell epitheliomata
MedGen UID:
87539
Concept ID:
C0346104
Neoplastic Process
Bazex syndrome is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward (Yung and Newton-Bishop, 2005). Rombo syndrome (180730) has similar features, but shows autosomal dominant inheritance.
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.
Hay-Wells syndrome of ectodermal dysplasia
MedGen UID:
98032
Concept ID:
C0406709
Congenital Abnormality
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, which includes the Rapp-Hodgkin syndrome, is characterized by ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids); ectodermal defects (sparse wiry hair; skin erosions and unique pigmentary changes; nail changes; dental changes; subjective decrease in sweating capacity); and cleft lip/palate. Nearly 100% of affected neonates have superficial skin erosions that range from very limited to severe, even life-threatening, full body involvement. Scalp erosions at birth and during infancy are typical and, when severe, can lead to scarring alopecia and hypotrichosis. Limb anomalies are common and can include syndactyly of fingers and toes, camptodactyly (permanent and irreducible flexion of the fingers), and ectrodactyly (split hand split foot malformation).
Costello syndrome
MedGen UID:
108454
Concept ID:
C0587248
Disease or Syndrome
Costello syndrome is characterized by failure to thrive in infancy as a result of severe postnatal feeding difficulties; short stature; developmental delay or intellectual disability; coarse facial features (full lips, large mouth, full nasal tip); curly or sparse, fine hair; loose, soft skin with deep palmar and plantar creases; papillomata of the face and perianal region; diffuse hypotonia and joint laxity with ulnar deviation of the wrists and fingers; tight Achilles tendons; and cardiac involvement including: cardiac hypertrophy (usually typical hypertrophic cardiomyopathy [HCM]), congenital heart defect (usually valvar pulmonic stenosis), and arrhythmia (usually supraventricular tachycardia, especially chaotic atrial rhythm/multifocal atrial tachycardia or ectopic atrial tachycardia). Relative or absolute macrocephaly is typical, and postnatal cerebellar overgrowth can result in the development of a Chiari I malformation with associated anomalies including hydrocephalus or syringomyelia. Individuals with Costello syndrome have an approximately 15% lifetime risk for malignant tumors including rhabdomyosarcoma and neuroblastoma in young children and transitional cell carcinoma of the bladder in adolescents and young adults.
Bullous dystrophy hereditary macular type
MedGen UID:
167089
Concept ID:
C0795974
Disease or Syndrome
A skin disease characterized by formation of bullae without evidence of trauma, hyperpigmentation or hypopigmentation and acrocyanosis in association with microcephaly, subnormal growth and mental development, short tapering fingers, and occasionally deformed nails.
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.
Adrenomyeloneuropathy
MedGen UID:
315918
Concept ID:
C1527231
Disease or Syndrome
Nasal hyperpigmentation, familial transverse
MedGen UID:
331727
Concept ID:
C1834369
Disease or Syndrome
Glucocorticoid deficiency 3
MedGen UID:
332252
Concept ID:
C1836621
Disease or Syndrome
Oculoectodermal syndrome
MedGen UID:
333068
Concept ID:
C1838329
Disease or Syndrome
Hyperpigmentation of fuldauer and kuijpers
MedGen UID:
327090
Concept ID:
C1840393
Disease or Syndrome
Adrenal hypoplasia, congenital, with precocious puberty
MedGen UID:
337418
Concept ID:
C1846220
Disease or Syndrome
Adrenal insufficiency, progressive, and hypogonadotropic hypogonadism
MedGen UID:
337537
Concept ID:
C1846221
Disease or Syndrome
Glucocorticoid deficiency 2
MedGen UID:
375856
Concept ID:
C1846284
Disease or Syndrome
Nakajo syndrome
MedGen UID:
376827
Concept ID:
C1850568
Disease or Syndrome
This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011). This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions.
Extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly
MedGen UID:
343564
Concept ID:
C1851412
Disease or Syndrome
Achalasia-alacrima syndrome
MedGen UID:
383907
Concept ID:
C1856419
Disease or Syndrome
Dyskeratosis congenita autosomal recessive
MedGen UID:
341705
Concept ID:
C1857144
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.
Hemochromatosis type 3
MedGen UID:
388114
Concept ID:
C1858664
Disease or Syndrome
TFR2-related hereditary hemochromatosis (TFR2-HHC) is characterized by increased intestinal iron absorption resulting in iron accumulation in the liver, heart, pancreas, and endocrine organs. Age of onset is earlier than in HFE-associated HHC. Some individuals present in the second decade and others present as adults with fatigue and arthralgia and/or organ involvement including liver cirrhosis, diabetes mellitus, and arthropathy. In other individuals, TFR2-HHC may not be progressive even if untreated.
Adrenocortical unresponsiveness to ACTH with postreceptor defect
MedGen UID:
348507
Concept ID:
C1859971
Disease or Syndrome
ACTH resistance
MedGen UID:
395383
Concept ID:
C1859974
Disease or Syndrome
Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from defects in the action of adrenocorticotropic hormone (ACTH) to stimulate glucocorticoid synthesis in the adrenal. Production of mineralocorticoids by the adrenal is normal. Patients present in early life with low or undetectable cortisol and, because of the failure of the negative feedback loop to the pituitary and hypothalamus, grossly elevated ACTH levels (summary by Clark et al., 2009). Genetic Heterogeneity of Familial Glucocorticoid Deficiency Familial glucocorticoid deficiency-2 (GCCD2; 607398) is caused by mutation in the MRAP gene (699196) on chromosome 21q22. GCCD3 has been mapped to chromosome 8q11.2-q13.2. GCCD4 (614736) is caused by mutation in the NNT gene (607878) on chromosome 5p12.
Xeroderma pigmentosum, autosomal dominant, mild
MedGen UID:
395440
Concept ID:
C1860231
Disease or Syndrome
Hemochromatosis type 2A
MedGen UID:
356321
Concept ID:
C1865614
Disease or Syndrome
Juvenile hemochromatosis is characterized by onset of severe iron overload occurring typically in the first to third decades of life. Males and females are equally affected. Prominent clinical features include hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. Hepatocellular cancer has not been reported. The main cause of death is cardiac disease. If juvenile hemochromatosis is detected early enough and if blood is removed regularly through the process of phlebotomy to achieve iron depletion, morbidity and mortality are greatly reduced.
Hemochromatosis type 2B
MedGen UID:
356040
Concept ID:
C1865616
Disease or Syndrome
Juvenile hemochromatosis is characterized by onset of severe iron overload occurring typically in the first to third decades of life. Males and females are equally affected. Prominent clinical features include hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. Hepatocellular cancer has not been reported. The main cause of death is cardiac disease. If juvenile hemochromatosis is detected early enough and if blood is removed regularly through the process of phlebotomy to achieve iron depletion, morbidity and mortality are greatly reduced.
PORPHYRIA CUTANEA TARDA, TYPE I
MedGen UID:
357391
Concept ID:
C1867968
Disease or Syndrome
De Verneuil et al. (1978) classified porphyria cutanea tarda (PCT), the most common type of porphyria, into 2 types: type I, or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD; 613521) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type (176100), characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980). Type I is the most common form of PCT, comprising 70 to 80% of cases. The causes of the deficiency are often unclear and are probably multifactorial (review by Lambrecht et al., 2007).
Adenomatous polyposis coli, attenuated
MedGen UID:
358117
Concept ID:
C1868019
Disease or Syndrome
Gaucher's disease, type 1
MedGen UID:
409531
Concept ID:
C1961835
Disease or Syndrome
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.
Myopathy, congenital, with excess of muscle spindles
MedGen UID:
369344
Concept ID:
C1968782
Disease or Syndrome
Brain tumor-polyposis syndrome 2
MedGen UID:
435873
Concept ID:
C2673218
Disease or Syndrome
Attenuated FAP
MedGen UID:
436213
Concept ID:
C2674616
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
Mineralocorticoid deficiency, isolated
MedGen UID:
413542
Concept ID:
C2749175
Disease or Syndrome
ACHALASIA-ALACRIMA SYNDROME
MedGen UID:
443975
Concept ID:
C2931084
Disease or Syndrome
Melanodermic leukodystrophy
MedGen UID:
419198
Concept ID:
C2931920
Disease or Syndrome
Noonan syndrome 7
MedGen UID:
462320
Concept ID:
C3150970
Disease or Syndrome
Noonan syndrome (NS) is characterized by short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, characteristic facies, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one third of affected individuals have mild intellectual disability.
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
MedGen UID:
462405
Concept ID:
C3151055
Disease or Syndrome
P450scc deficiency is a rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are grossly elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure (summary by Kim et al., 2008). Although hormonal and phenotypic features can resemble those of congenital lipoid adrenal hyperplasia (lipoid CAH; 201710), no patient with P450scc deficiency has been described with the massive adrenal enlargement typical of lipoid CAH (summary by Sahakitrungruang et al., 2011).
CANDLE syndrome
MedGen UID:
480190
Concept ID:
C3278560
Disease or Syndrome

Recent clinical studies

Etiology

Savory SA, Agim NG, Mao R, Peter S, Wang C, Maldonado G, Bearden Dietert J, Lieu TJ, Wang C, Pretzlaff K, Das S, Vandergriff T, Lopez IE, Litzner BR, Hynan LS, Arellano-Mendoza MI, Bergstresser PR, Pandya AG
J Am Acad Dermatol 2014 Jan;70(1):108-14. Epub 2013 Oct 28 doi: 10.1016/j.jaad.2013.09.017. [Epub ahead of print] PMID: 24176524
Tsilika K, Tran A, Trucchi R, Pop S, Anty R, Cardot-Leccia N, Lacour JP, Ortonne JP, Passeron T
JAMA Dermatol 2013 Jun;149(6):675-7. doi: 10.1001/jamadermatol.2013.1989. PMID: 23553009
Fabi SG, Goldman MP
J Drugs Dermatol 2013 Mar;12(3):S32-7. PMID: 23545931
Makino ET, Mehta RC, Banga A, Jain P, Sigler ML, Sonti S
J Drugs Dermatol 2013 Mar;12(3):s16-20. PMID: 23545928
Taylor MB, Yanaki JS, Draper DO, Shurtz JC, Coglianese M
J Drugs Dermatol 2013 Jan;12(1):45-50. PMID: 23377327

Diagnosis

Ho MC, Hsieh YT
J AAPOS 2013 Oct;17(5):558-60. doi: 10.1016/j.jaapos.2013.06.003. PMID: 24160983
Takenaka Y, Hoshino Y, Nakajima H, Hayashi N, Kawashima M, Imokawa G
J Dermatol 2013 Jul;40(7):533-42. Epub 2013 May 10 doi: 10.1111/1346-8138.12178. [Epub ahead of print] PMID: 23662587
Nieuweboer-Krobotova L
J Eur Acad Dermatol Venereol 2013 Jan;27 Suppl 1:2-4. doi: 10.1111/jdv.12048. PMID: 23205538
Lamel SA, Rahvar M, Maibach HI
Cutan Ocul Toxicol 2013 Mar;32(1):67-71. Epub 2012 Jun 6 doi: 10.3109/15569527.2012.684419. [Epub ahead of print] PMID: 22667459
Prka Z, Tomasovic-Loncaric C, Pejsa V, Nevajda B, Kusec R
Ann Saudi Med 2012 May-Jun;32(3):318-20. doi: 10.5144/0256-4947.2012.318. PMID: 22588448

Therapy

Alexis AF, Blackcloud P
J Drugs Dermatol 2013 Sep;12(9 Suppl):s123-7. PMID: 24002160
Woolery-Lloyd HC, Keri J, Doig S
J Drugs Dermatol 2013 Apr;12(4):434-7. PMID: 23652891
Tsilika K, Tran A, Trucchi R, Pop S, Anty R, Cardot-Leccia N, Lacour JP, Ortonne JP, Passeron T
JAMA Dermatol 2013 Jun;149(6):675-7. doi: 10.1001/jamadermatol.2013.1989. PMID: 23553009
Makino ET, Mehta RC, Banga A, Jain P, Sigler ML, Sonti S
J Drugs Dermatol 2013 Mar;12(3):s16-20. PMID: 23545928
Taylor MB, Yanaki JS, Draper DO, Shurtz JC, Coglianese M
J Drugs Dermatol 2013 Jan;12(1):45-50. PMID: 23377327

Prognosis

Eryilmaz T, Tellioglu AT, Ozakpinar HR, Oktem HF, Sen T, Albayrak A, Alper M
J Plast Surg Hand Surg 2013 Oct;47(5):405-8. Epub 2013 Apr 3 doi: 10.3109/2000656X.2013.773517. [Epub ahead of print] PMID: 23547532
Foad MS, Winters E
J Drugs Dermatol 2013 Mar;12(3):S42-4. PMID: 23545933
Fabi SG, Goldman MP
J Drugs Dermatol 2013 Mar;12(3):S32-7. PMID: 23545931
Taylor MB, Yanaki JS, Draper DO, Shurtz JC, Coglianese M
J Drugs Dermatol 2013 Jan;12(1):45-50. PMID: 23377327
Shibata M, Nagai K, Usami K, Tawada H, Taniguchi S
Nephrol Dial Transplant 2011 Mar;26(3):988-92. Epub 2010 Aug 9 doi: 10.1093/ndt/gfq479. [Epub ahead of print] PMID: 20696681

Clinical prediction guides

Savory SA, Agim NG, Mao R, Peter S, Wang C, Maldonado G, Bearden Dietert J, Lieu TJ, Wang C, Pretzlaff K, Das S, Vandergriff T, Lopez IE, Litzner BR, Hynan LS, Arellano-Mendoza MI, Bergstresser PR, Pandya AG
J Am Acad Dermatol 2014 Jan;70(1):108-14. Epub 2013 Oct 28 doi: 10.1016/j.jaad.2013.09.017. [Epub ahead of print] PMID: 24176524
Takenaka Y, Hoshino Y, Nakajima H, Hayashi N, Kawashima M, Imokawa G
J Dermatol 2013 Jul;40(7):533-42. Epub 2013 May 10 doi: 10.1111/1346-8138.12178. [Epub ahead of print] PMID: 23662587
Tsilika K, Tran A, Trucchi R, Pop S, Anty R, Cardot-Leccia N, Lacour JP, Ortonne JP, Passeron T
JAMA Dermatol 2013 Jun;149(6):675-7. doi: 10.1001/jamadermatol.2013.1989. PMID: 23553009
Fabi SG, Goldman MP
J Drugs Dermatol 2013 Mar;12(3):S32-7. PMID: 23545931
Taylor MB, Yanaki JS, Draper DO, Shurtz JC, Coglianese M
J Drugs Dermatol 2013 Jan;12(1):45-50. PMID: 23377327

Recent systematic reviews

Rivas S, Pandya AG
Am J Clin Dermatol 2013 Oct;14(5):359-76. doi: 10.1007/s40257-013-0038-4. PMID: 23881551
Khalesi M, Whiteman DC, Tran B, Kimlin MG, Olsen CM, Neale RE
Cancer Epidemiol 2013 Oct;37(5):534-43. Epub 2013 Jul 10 doi: 10.1016/j.canep.2013.05.008. [Epub ahead of print] PMID: 23849507
Krause W
J Dtsch Dermatol Ges 2013 Jul;11(7):644-51. Epub 2013 May 8 doi: 10.1111/ddg.12042. [Epub ahead of print] PMID: 23650908
Luo YJ, Xu XG, Wu Y, Xu TH, Chen JZ, Gao XH, Chen HD, Li YH
J Drugs Dermatol 2012 Nov;11(11):1310-4. PMID: 23135080
Berk DR
Pediatr Dermatol 2012 May-Jun;29(3):297-300. Epub 2011 Oct 4 doi: 10.1111/j.1525-1470.2011.01422.x. [Epub ahead of print] PMID: 21967469

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