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Melanocytic nevus

MedGen UID:
14364
Concept ID:
C0027962
Finding
Synonyms: Melanocytic Nevi; Melanocytic Nevus; Nevi, Melanocytic; Nevi, Pigmented; Nevus, Melanocytic; Nevus, Pigmented; Pigmented Moles; Pigmented Nevi; Pigmented Nevus
SNOMED CT: Melanocytic nevus of skin (400010006); Melanocytic nevus (400096001); Pigmented nevus of skin (400010006); Mole of skin (400010006); Mole (400096001); Pigmented nevus, no ICD-O subtype (21119008); Pigmented nevus, no International Classification of Diseases for Oncology subtype (21119008); Pigmented nevus (21119008); Nevus (21119008); Melanocytic nevus (21119008)
 
OMIM®: 162900
HPO: HP:0000995

Definition

A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. [from HPO]

Conditions with this feature

Gorlin syndrome
MedGen UID:
2554
Concept ID:
C0004779
Neoplastic Process
Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs) usually from the third decade onward. Approximately 60% of individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in more than 90% of affected individuals by age 20 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor [PNET]), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.
Beckwith-Wiedemann syndrome
MedGen UID:
2562
Concept ID:
C0004903
Congenital Abnormality
Beckwith-Wiedemann syndrome (BWS) is a growth disorder characterized by macrosomia, macroglossia, visceromegaly, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), omphalocele, neonatal hypoglycemia, ear creases/pits, adrenocortical cytomegaly, and renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly). Early death may occur from complications of prematurity, hypoglycemia, cardiomyopathy, macroglossia, or tumors. However, the previously reported mortality of 20% is likely an overestimate given better recognition of the disorder along with enhanced treatment options. Macroglossia and macrosomia are generally present at birth but may have postnatal onset. Growth rate slows around age seven to eight years. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues.
Crouzon syndrome
MedGen UID:
1162
Concept ID:
C0010273
Finding
The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg pathogenic variant in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings.
Cowden syndrome
MedGen UID:
5420
Concept ID:
C0018553
Neoplastic Process
Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers. Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties. Cowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include colorectal cancer, kidney cancer, and a form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development or intellectual disability. The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. Both conditions can be caused by mutations in the PTEN gene. Some people with Cowden syndrome have had relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other individuals have had the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions. Some people have some of the characteristic features of Cowden syndrome, particularly the cancers associated with this condition, but do not meet the strict criteria for a diagnosis of Cowden syndrome. These individuals are often described as having Cowden-like syndrome.
Peutz-Jeghers syndrome
MedGen UID:
18404
Concept ID:
C0031269
Disease or Syndrome
Peutz-Jeghers syndrome (PJS) is an autosomal-dominant condition characterized by the association of gastrointestinal polyposis, mucocutaneous pigmentation, and cancer predisposition. Peutz-Jeghers-type hamartomatous polyps are most common in the small intestine (in order of prevalence: in the jejunum, ileum, and duodenum) but can also occur in the stomach, large bowel, and extraintestinal sites including the renal pelvis, bronchus, gall bladder, nasal passages, urinary bladder, and ureters. Gastrointestinal polyps can result in chronic bleeding and anemia and also cause recurrent obstruction and intussusception requiring repeated laparotomy and bowel resection. Mucocutaneous hyperpigmentation presents in childhood as dark blue to dark brown macules around the mouth, eyes, and nostrils, in the perianal area, and on the buccal mucosa. Hyperpigmented macules on the fingers are common. The macules may fade in puberty and adulthood. Individuals with Peutz-Jeghers syndrome are at increased risk for a wide variety of epithelial malignancies (colorectal, gastric, pancreatic, breast, and ovarian cancers). Females are at risk for sex cord tumors with annular tubules (SCTAT), a benign neoplasm of the ovaries, and adenoma malignum of the cervix, a rare aggressive cancer. Males occasionally develop large calcifying Sertoli cell tumors (LCST) of the testes, which secrete estrogen and can lead to gynecomastia, advanced skeletal age, and ultimately short stature, if untreated.
Proteus syndrome
MedGen UID:
39008
Concept ID:
C0085261
Neoplastic Process
Proteus syndrome is characterized by progressive, segmental or patchy overgrowth of diverse tissues of all germ layers, most commonly affecting the skeleton, skin, and adipose and central nervous systems. In most individuals Proteus syndrome has minimal or no manifestations at birth, develops and progresses rapidly beginning in the toddler period, and relentlessly progresses through childhood, causing severe overgrowth and disfigurement. It is associated with a range of tumors, pulmonary complications, and a striking predisposition to deep vein thrombosis and pulmonary embolism.
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).
Dermatofibrosis lenticularis disseminata
MedGen UID:
120545
Concept ID:
C0265514
Disease or Syndrome
Buschke-Ollendorff syndrome is an autosomal dominant connective tissue disorder manifest by multiple subcutaneous nevi or nodules. They may be either elastin-rich (elastoma) or collagen-rich (dermatofibrosis lenticularis disseminata) on histologic examination. The lesions are usually nontender and firm. Affected individuals also have osteopoikilosis (OPK), literally meaning 'spotted bones,' which are osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula. Some individuals have both skin and bone manifestations, whereas others may lack skin or bone manifestations. Some individuals may also have melorheostosis (155950), which is characterized by 'flowing' hyperostosis of the cortex of tubular bones. Most reported cases of BOS and OPK are benign, and the bone lesions are found incidentally, although some patients may have joint pain (reviews by Hellemans et al., 2004 and Zhang et al., 2009).
Ehlers-Danlos syndrome, type 4
MedGen UID:
82790
Concept ID:
C0268338
Disease or Syndrome
Vascular Ehlers-Danlos Syndrome (vEDS) 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 vEDS. 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, recurrent joint subluxation or dislocation, and bruising can occur. Pregnancy for women with vEDS has an estimated 5.3% risk for death from peripartum arterial rupture or uterine rupture. One fourth of individuals with vEDS, confirmed by laboratory testing, experienced a major complication by age 20 years and more than 80% by age 40 years. The median age of death in this reviewed population was 50 years.
Hyperphosphatasemia with bone disease
MedGen UID:
75678
Concept ID:
C0268414
Disease or Syndrome
Paget disease of bone-5 is an autosomal recessive, juvenile-onset form of Paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. Clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness. There is phenotypic variability, with some patients presenting in infancy, while others present later in childhood (summary by Naot et al., 2014). For discussion of genetic heterogeneity of Paget disease of bone, see 167250.
Alexander disease
MedGen UID:
78724
Concept ID:
C0270726
Disease or Syndrome
Alexander disease is a progressive disorder of cerebral white matter that predominantly affects infants and children and has variable life expectancy. The later-onset forms present with a slower clinical course. The infantile form comprises about 42% of affected individuals, the juvenile form about 22%, and the adult form about 33%. A neonatal form is also recognized. The neonatal form leads to severe disability or death within two years. Characteristics include seizures, hydrocephalus, severe motor and intellectual disability, and elevated CSF protein concentration. MRI shows severe white matter abnormalities with involvement of the basal ganglia and cerebellum. The infantile form presents in the first two years of life, typically with progressive psychomotor retardation with loss of developmental milestones, megalencephaly, frontal bossing, and seizures. Other findings include hyperreflexia and pyramidal signs, ataxia, and occasional hydrocephalus secondary to aqueductal stenosis. Affected children survive weeks to several years. The juvenile form usually presents between ages four and ten years, occasionally in the mid-teens. Findings can include bulbar/pseudobulbar signs, ataxia, gradual loss of intellectual function, seizures, normocephaly or megalencephaly, and breathing problems. Survival ranges from the early teens to the 20s-30s. The adult form is the most variable.
Epidermal nevus
MedGen UID:
83106
Concept ID:
C0334082
Finding
Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. They appear at or shortly after birth as localized epidermal thickening with hyperpigmentation that frequently follow the lines of Blaschko, suggesting that they result from postzygotic somatic mutation in the skin (Paller et al., 1994). A rare subgroup of epidermal nevi is clinically indistinguishable from other epidermal nevi, but displays histopathologic features typical of epidermolytic hyperkeratosis (see EHK, 113800), and patients with this type of epidermal nevi sometimes have offspring with generalized EHK (Paller et al., 1994). Woolly hair nevus is a rare condition characterized by the development of woolly hair in a restricted area on the scalp, either present at birth or becoming evident later in life when scalp hair begins to grow. Woolly hair nevus can be an isolated finding or can occur in association with additional ectodermal defects; epidermal nevi have been reported in association with woolly hair nevi (summary by Ramot and Zlotogorski, 2015). Nevus sebaceous, a benign congenital skin lesion that preferentially affects the scalp and face, is characterized by hairless, yellow-orange plaques of various size and shape. Histology shows that nevus sebaceous is a hamartoma consisting of epidermal, sebaceous, and apocrine elements. About 24% of nevi develop secondary tumors, some of which may be malignant (summary by Groesser et al., 2012). Also see giant pigmented hairy nevus (137550) and malignant melanoma (155600).
Congenital livedo reticularis
MedGen UID:
83381
Concept ID:
C0345419
Congenital Abnormality
Neurocutaneous melanosis
MedGen UID:
154259
Concept ID:
C0544862
Pathologic Function
Neurocutaneous melanosis, or neuromelanosis, is characterized by the presence of melanin-producing cells within the brain parenchyma or leptomeninges, which may lead to clinically apparent neurologic signs and symptoms, such as seizures. Other neurologic abnormalities, including hydrocephalus, arachnoid cysts, tumors, and syringomyelia, may also occur. The disorder is a rare but severe manifestation of congenital melanocytic nevus syndrome (CMNS; 137550). Some patients with neurocutaneous melanosis or CMNS may develop malignant melanoma. The incidence of neurologic involvement, development of malignant melanoma, and death is significantly associated with the projected adult size of the largest congenital melanocytic nevus, particularly those greater than 40 cm (summary by Kinsler et al., 2008; Kinsler et al., 2013).
Schimke immunoosseous dysplasia
MedGen UID:
164078
Concept ID:
C0877024
Congenital Abnormality
Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by spondyloepiphyseal dysplasia (SED) resulting in short stature, nephropathy, and T-cell deficiency. Radiographic manifestations of SED include ovoid and mildly flattened vertebral bodies, small deformed capital femoral epiphyses, and shallow dysplastic acetabular fossae. Adult height is 136-157 cm for men and 98.5-143 cm for women. Nearly all affected individuals have progressive steroid-resistant nephropathy, usually developing within five years of the diagnosis of growth failure and terminating with end-stage renal disease (ESRD). The majority of tested individuals have T-cell deficiency and associated risk for opportunistic infection, a common cause of death. SIOD involves a spectrum that ranges from an infantile or severe early-onset form with death early in life to a juvenile or milder later-onset form with survival into adulthood if renal disease is appropriately treated.
Progeroid short stature with pigmented nevi
MedGen UID:
224702
Concept ID:
C1261128
Disease or Syndrome
Mulvihill-Smith syndrome is characterized by premature aging, multiple pigmented nevi, lack of facial subcutaneous fat, microcephaly, short stature, sensorineural hearing loss, and mental retardation. Immunodeficiency may also be a feature. Adult manifestations include the development of tumors, a sleep disorder with severe insomnia, and cognitive decline (summary by Yagihashi et al., 2009).
Congenital amegakaryocytic thrombocytopenia
MedGen UID:
272171
Concept ID:
C1327915
Disease or Syndrome
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder expressed in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies (Muraoka et al., 1997). King et al. (2005) proposed a new classification of CAMT based on the course and outcome of the disease, as exemplified by 20 patients: CAMT type I (11 patients) was characterized by early onset of severe pancytopenia, decreased bone marrow activity, and very low platelet counts. CAMT type II (9 patients) was somewhat milder and characterized by transient increases of platelet counts up to nearly normal values during the first year of life and an onset of bone marrow failure at age 3 or later.
Juvenile macular degeneration and hypotrichosis
MedGen UID:
316921
Concept ID:
C1832162
Disease or Syndrome
Hydrocephalus, skeletal anomalies, and mental disturbance
MedGen UID:
318750
Concept ID:
C1832948
Disease or Syndrome
Otodental dysplasia
MedGen UID:
318937
Concept ID:
C1833693
Disease or Syndrome
Otodental syndrome is an autosomal dominant condition characterized by grossly enlarged canine and molar teeth (globodontia), associated with sensorineural hearing loss. Ocular coloboma segregating with otodental syndrome has been reported (summary by Gregory-Evans et al., 2007).
Macules hereditary congenital hypopigmented and hyperpigmented
MedGen UID:
371988
Concept ID:
C1835172
Disease or Syndrome
Arterial dissection with lentiginosis
MedGen UID:
325345
Concept ID:
C1838122
Disease or Syndrome
Torticollis keloids cryptorchidism renal dysplasia
MedGen UID:
326819
Concept ID:
C1839129
Disease or Syndrome
Cubitus valgus with mental retardation and unusual facies
MedGen UID:
336943
Concept ID:
C1845450
Disease or Syndrome
Oculocutaneous albinism type 1B
MedGen UID:
337712
Concept ID:
C1847024
Disease or Syndrome
Oculocutaneous albinism type 1 (OCA1) is characterized by hypopigmentation of the skin and hair and the distinctive ocular changes found in all types of albinism, including: nystagmus; reduced iris pigment with iris translucency; reduced retinal pigment with visualization of the choroidal blood vessels on ophthalmoscopic examination; foveal hypoplasia with substantial reduction in visual acuity, usually in the range of 20/100 to 20/400; and misrouting of the optic nerve fiber radiations at the chiasm, resulting in strabismus, reduced stereoscopic vision, and altered visually evoked potentials (VEP). Individuals with OCA1A have white hair, white skin that does not tan, and fully translucent irides, none of which darken with age. At birth, individuals with OCA1B have white or very light yellow hair that darkens minimally with age, white skin that over time develops some minimal generalized pigment and may tan slightly with judicious sun exposure, and blue irides that darken to green/hazel or light brown/tan with age, although transillumination defects persist. Visual acuity may be 20/60 or better in some eyes.
Trichoodontoonychial dysplasia
MedGen UID:
376429
Concept ID:
C1848744
Disease or Syndrome
Pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies
MedGen UID:
337882
Concept ID:
C1849661
Disease or Syndrome
Gastrocutaneous syndrome
MedGen UID:
338154
Concept ID:
C1850899
Disease or Syndrome
Ectodermal dysplasia trichoodontoonychial type
MedGen UID:
338798
Concept ID:
C1851858
Disease or Syndrome
Dermoodontodysplasia
MedGen UID:
377602
Concept ID:
C1852144
Disease or Syndrome
Cutis Gyrata syndrome of Beare and Stevenson
MedGen UID:
377668
Concept ID:
C1852406
Congenital Abnormality
The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg pathogenic variant in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings.
Ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia
MedGen UID:
384046
Concept ID:
C1857052
Disease or Syndrome
Groll Hirschowitz syndrome
MedGen UID:
347426
Concept ID:
C1857338
Disease or Syndrome
Camptodactyly syndrome Guadalajara type 1
MedGen UID:
395241
Concept ID:
C1859359
Disease or Syndrome
Kuskokwim disease
MedGen UID:
349229
Concept ID:
C1859709
Disease or Syndrome
Kuskokwim syndrome is characterized by joint deformities called contractures that restrict the movement of affected joints. This condition has been found only in a population of native Alaskans known as Yup'ik Eskimos, who live in and around a region of southwest Alaska known as the Kuskokwim River Delta. In Kuskokwim syndrome, contractures most commonly affect the knees, ankles, and elbows, although other joints, particularly of the lower body, can be affected. The contractures are usually present at birth and worsen during childhood. They tend to stabilize after childhood, and they remain throughout life. Some individuals with this condition have other bone abnormalities, most commonly affecting the spine, pelvis, and feet. Affected individuals can develop an inward curve of the lower back (lordosis), a spine that curves to the side (scoliosis), wedge-shaped spinal bones, or an abnormality of the collarbones (clavicles) described as clubbing. Affected individuals are typically shorter than their peers and they may have an abnormally large head (macrocephaly).
Alopecia, epilepsy, pyorrhea, mental subnormality
MedGen UID:
350833
Concept ID:
C1863090
Disease or Syndrome
ADULT syndrome
MedGen UID:
400232
Concept ID:
C1863204
Disease or Syndrome
Crouzon syndrome with acanthosis nigricans
MedGen UID:
394201
Concept ID:
C2677099
Disease or Syndrome
The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg pathogenic variant in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings.
Alopecia, neurologic defects, and endocrinopathy syndrome
MedGen UID:
394313
Concept ID:
C2677535
Disease or Syndrome
15q13.3 microdeletion syndrome
MedGen UID:
393784
Concept ID:
C2677613
Disease or Syndrome
Heterozygous deletion of chromosome 15q13.3 is associated with a highly variable phenotype, even within families segregating the same deletion. Individuals with the deletion may have mild to moderate mental retardation or learning difficulties, or may have no cognitive deficits. Some individuals have epilepsy. Various dysmorphic features have been described, but there is no consistent or recognizable phenotype (review by van Bon et al., 2009). Patients with homozygous deletions in this region have severe neurodevelopmental problems, with epileptic encephalopathy, hypotonia, and poor growth (Endris et al., 2010).
Hermansky-Pudlak syndrome 1
MedGen UID:
419514
Concept ID:
C2931875
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is a multisystem disorder characterized by: tyrosinase-positive oculocutaneous albinism; a bleeding diathesis resulting from a platelet storage pool deficiency; and, in some cases, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. The albinism is characterized by: hypopigmentation of the skin and hair; and ocular findings of reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in easy bruising, frequent epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects are associated primarily with HPS-2.
Chromosome 14q11-q22 deletion syndrome
MedGen UID:
462057
Concept ID:
C3150707
Disease or Syndrome
Acrodysostosis 1 with or without hormone resistance
MedGen UID:
477858
Concept ID:
C3276228
Disease or Syndrome
Acrodysostosis-1 is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). Genetic Heterogeneity of Acrodysostosis See also ACRDYS2 (614613), caused by mutation in the PDE4D gene (600129) on chromosome 5q12.

Recent clinical studies

Etiology

Pawlikowski JS, Brock C, Chen SC, Al-Olabi L, Nixon C, McGregor F, Paine S, Chanudet E, Lambie W, Holmes WM, Mullin JM, Richmond A, Wu H, Blyth K, King A, Kinsler VA, Adams PD
J Invest Dermatol 2015 Aug;135(8):2093-101. Epub 2015 Mar 27 doi: 10.1038/jid.2015.114. [Epub ahead of print] PMID: 25815427Free PMC Article
Su JJ, Chang DK, Mailey B, Gosman A
Ann Plast Surg 2015 May;74 Suppl 1:S57-61. doi: 10.1097/SAP.0000000000000433. PMID: 25664413
Magaña M, Sánchez-Romero E, Magaña P, Beck-Magaña A, Magaña-Lozano M
Am J Dermatopathol 2015 Jan;37(1):31-7. doi: 10.1097/DAD.0000000000000183. PMID: 25140664
Katibi OS, Ogunbiyi A, Brown BJ, Adeyemi OO
Int J Dermatol 2014 Oct;53(10):1241-3. Epub 2014 Sep 10 doi: 10.1111/ijd.12503. [Epub ahead of print] PMID: 25209196
Viana AC, Gontijo B, Bittencourt FV
An Bras Dermatol 2013 Nov-Dec;88(6):863-78. doi: 10.1590/abd1806-4841.20132233. PMID: 24474093Free PMC Article

Diagnosis

Zhang L, Xie Q, Shan SJ, Tabor MK, Junkins-Hopkins JM
Anticancer Res 2015 Jun;35(6):3185-91. PMID: 26026078
Magaña M, Sánchez-Romero E, Magaña P, Beck-Magaña A, Magaña-Lozano M
Am J Dermatopathol 2015 Jan;37(1):31-7. doi: 10.1097/DAD.0000000000000183. PMID: 25140664
Wilford CE, Brantley JS, Diwan AH
J Cutan Pathol 2014 Oct;41(10):802-5. doi: 10.1111/j.1600-0560.2012.01824.x. PMID: 25351287
Christman MP, Kerner JK, Cheng C, Piris A, Nepo AG, Sepehr A, Kroshinsky D
Pediatr Dermatol 2014 Sep-Oct;31(5):584-7. Epub 2014 Jun 9 doi: 10.1111/pde.12359. [Epub ahead of print] PMID: 24913904
Viana AC, Gontijo B, Bittencourt FV
An Bras Dermatol 2013 Nov-Dec;88(6):863-78. doi: 10.1590/abd1806-4841.20132233. PMID: 24474093Free PMC Article

Therapy

Wilford CE, Brantley JS, Diwan AH
J Cutan Pathol 2014 Oct;41(10):802-5. doi: 10.1111/j.1600-0560.2012.01824.x. PMID: 25351287
Christman MP, Kerner JK, Cheng C, Piris A, Nepo AG, Sepehr A, Kroshinsky D
Pediatr Dermatol 2014 Sep-Oct;31(5):584-7. Epub 2014 Jun 9 doi: 10.1111/pde.12359. [Epub ahead of print] PMID: 24913904
Zeng Y, Zheng YQ
J Dermatolog Treat 2014 Aug;25(4):287-9. Epub 2013 May 21 doi: 10.3109/09546634.2013.789475. [Epub ahead of print] PMID: 23534922
Porrini R, Valente G, Colombo E, Cannas M, Sabbatini M
Minerva Stomatol 2013 Jan-Feb;62(1-2):43-9. PMID: 23422682
Ambros T, Furian R, Riccardi F
Pediatr Dermatol 2011 Nov-Dec;28(6):729-31. Epub 2011 Sep 25 doi: 10.1111/j.1525-1470.2011.01398.x. [Epub ahead of print] PMID: 21950562

Prognosis

Magaña M, Sánchez-Romero E, Magaña P, Beck-Magaña A, Magaña-Lozano M
Am J Dermatopathol 2015 Jan;37(1):31-7. doi: 10.1097/DAD.0000000000000183. PMID: 25140664
Rasmussen BS, Henriksen TF, Kølle SF, Schmidt G
Ann Plast Surg 2015 Feb;74(2):223-9. doi: 10.1097/SAP.0b013e3182920c3d. PMID: 23903082
Katibi OS, Ogunbiyi A, Brown BJ, Adeyemi OO
Int J Dermatol 2014 Oct;53(10):1241-3. Epub 2014 Sep 10 doi: 10.1111/ijd.12503. [Epub ahead of print] PMID: 25209196
Chikhalkar S, Gutte R, Holmukhe S, Khopkar U, Desai S, Gupta S
Int J Dermatol 2013 Nov;52(11):1372-5. Epub 2013 Mar 3 doi: 10.1111/j.1365-4632.2011.05448.x. [Epub ahead of print] PMID: 23451914
Heng YK, Ng SK, Tan KB, Lee JS
Am J Dermatopathol 2013 Jun;35(4):486-8. doi: 10.1097/DAD.0b013e318261ea3a. PMID: 22892470

Clinical prediction guides

Magaña M, Sánchez-Romero E, Magaña P, Beck-Magaña A, Magaña-Lozano M
Am J Dermatopathol 2015 Jan;37(1):31-7. doi: 10.1097/DAD.0000000000000183. PMID: 25140664
Nguyen TL, Theos A, Kelly DR, Busam K, Andea AA
Am J Dermatopathol 2013 Feb;35(1):e16-21. doi: 10.1097/DAD.0b013e318265fe12. PMID: 23348144
Kinsler V, Shaw AC, Merks JH, Hennekam RC
Am J Med Genet A 2012 May;158A(5):1014-9. Epub 2012 Mar 21 doi: 10.1002/ajmg.a.34217. [Epub ahead of print] PMID: 22438093
Manganaro L, Onesti MG, Sergi ME, Vinci V, Maruccia M, Soda G, Marini M
Clin Ter 2011;162(5):431-4. PMID: 22041799
Togawa Y, Nakamura Y, Kamada N, Kambe N, Takahashi Y, Matsue H
Int J Dermatol 2010 Dec;49(12):1362-7. PMID: 21155082

Recent systematic reviews

Su JJ, Chang DK, Mailey B, Gosman A
Ann Plast Surg 2015 May;74 Suppl 1:S57-61. doi: 10.1097/SAP.0000000000000433. PMID: 25664413
Neuhold JC, Friesenhahn J, Gerdes N, Krengel S
Pediatr Dermatol 2015 Jan-Feb;32(1):13-22. Epub 2014 Dec 9 doi: 10.1111/pde.12400. [Epub ahead of print] PMID: 25487565
Pižem J, Nicholson KM, Mraz J, Prieto VG
Am J Surg Pathol 2013 Aug;37(8):1182-91. doi: 10.1097/PAS.0b013e31828950a3. PMID: 23715161
Li L, Slominski A, Qian J, Carlson JA
Am J Dermatopathol 2011 Feb;33(1):17-26. doi: 10.1097/DAD.0b013e3181e448cb. PMID: 21048488
Barnhill RL
Curr Opin Oncol 1993 Mar;5(2):364-76. PMID: 8457620

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