Hidrotic ectodermal dysplasia syndrome- MedGen UID:
- 56416
- •Concept ID:
- C0162361
- •
- Disease or Syndrome
Hidrotic ectodermal dysplasia 2, or Clouston syndrome (referred to as HED2 throughout this GeneReview) is characterized by a triad of major clinical features including partial-to-complete alopecia, nail dystrophy, and palmoplantar hyperkeratosis. Sweating is preserved and there are usually no dental anomalies. Sparse scalp hair and dysplastic nails are seen early in life. In infancy, scalp hair is fine, sparse, and brittle. 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. Associated features may include cutaneous hyperpigmentation (particularly over the joints) and finger clubbing. The clinical manifestations are highly variable even within the same family.
Bullous dystrophy, macular type- MedGen UID:
- 167089
- •Concept ID:
- C0795974
- •
- Disease or Syndrome
Hereditary bullous dystrophy of the macular type (HBDM) is a rare X-linked recessive disorder characterized by the formation of bullae without evident trauma, hyper- and hypopigmentation, absence of hair at birth, and, in some cases, microcephaly, mildly impaired intellectual development, short conic fingers, and aberrations of nails (summary by Wijker et al., 1995).
Bartsocas-Papas syndrome 1- MedGen UID:
- 337894
- •Concept ID:
- C1849718
- •
- Disease or Syndrome
Bartsocas-Papas syndrome-1 (BPS1) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported (summary by Mitchell et al., 2012).
Genetic Heterogeneity of Bartsocas-Papas Syndrome
Bartsocas-Papas syndrome-2 (BPS2) is caused by mutation in the CHUK gene (600664).
A less severe form of popliteal pterygium syndrome (PPS; 119500) is caused by mutation in the IRF6 gene (607199).
Alopecia areata 2- MedGen UID:
- 343971
- •Concept ID:
- C1853104
- •
- Disease or Syndrome
Autosomal recessive palmoplantar keratoderma and congenital alopecia- MedGen UID:
- 347851
- •Concept ID:
- C1859316
- •
- Disease or Syndrome
Palmoplantar keratoderma and congenital alopecia-2 (PPKCA2) is an autosomal recessive disorder characterized by congenital alopecia and progressive hyperkeratosis resulting in sclerodactyly, severe contractures and tapering of the digits, and pseudoainhum formation. Nail changes occur in some patients (Castori et al., 2010).
Also see PPKCA1 (104100), a less severe, autosomal dominant disorder.
Alopecia areata 1- MedGen UID:
- 400208
- •Concept ID:
- C1863094
- •
- Disease or Syndrome
Alopecia areata is a genetically determined, immune-mediated disorder of the hair follicle with an estimated lifetime risk of approximately 2%, making it one of the most common human autoimmune diseases. It shows a spectrum of severity that ranges from patchy localized hair loss on the scalp to the complete absence of hair everywhere on the body (Gilhar and Kalish, 2006).
Lethal acantholytic epidermolysis bullosa- MedGen UID:
- 400622
- •Concept ID:
- C1864826
- •
- Disease or Syndrome
Lethal acantholytic epidermolysis bullosa (EBLA) is an autosomal recessive skin disorder characterized by extensive epidermal dislodgment, universal alopecia, and anonychia. Cardiac involvement may be present. Death occurs in the neonatal period (summary by Hobbs et al., 2010).
Frontonasal dysplasia with alopecia and genital anomaly- MedGen UID:
- 462053
- •Concept ID:
- C3150703
- •
- Disease or Syndrome
Frontonasal dysplasia-2 (FND2) is an autosomal recessive disorder characterized by variable degrees of alopecia, skull defects, hypertelorism, depressed nasal bridge and ridge with notched alae nasi, and abnormal central nervous system findings (summary by Kariminejad et al., 2014).
Olmsted syndrome, X-linked- MedGen UID:
- 813075
- •Concept ID:
- C3806745
- •
- Disease or Syndrome
X-linked Olmsted syndrome (OLMSX) is a rare keratinization disorder characterized by the combination of periorificial keratotic plaques and bilateral palmoplantar transgredient keratoderma. Other clinical manifestations include diffuse alopecia, leukokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular keratosis, and constriction of the digits (summary by Yaghoobi et al., 2007).
For a general phenotypic description and a discussion of genetic heterogeneity of Olmsted disease, see OLMS1 (614594).
Immunodeficiency, common variable, 10- MedGen UID:
- 816321
- •Concept ID:
- C3809991
- •
- Disease or Syndrome
Common variable immunodeficiency-10 (CVID10) is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013).
For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).
Mitochondrial complex 3 deficiency, nuclear type 10- MedGen UID:
- 1719382
- •Concept ID:
- C5394051
- •
- Disease or Syndrome