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Epidermolysis bullosa simplex 2C, localized(EBS2C)

MedGen UID:
1794221
Concept ID:
C5562011
Disease or Syndrome
Synonyms: EBS2C; Epidermolysis bullosa simplex 2C, Weber-Cockayne type
 
Gene (location): KRT5 (12q13.13)
 
Monarch Initiative: MONDO:0030527
OMIM®: 619594

Disease characteristics

Excerpted from the GeneReview: Epidermolysis Bullosa Simplex
Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy. [from GeneReviews]
Authors:
Jodi Y So  |  Joyce Teng   view full author information

Additional description

From OMIM
Localized epidermolysis bullosa simplex-2C (EBS2C) is an autosomal dominant skin disorder with intraepidermal blistering after minor trauma mainly restricted to hands and feet beginning in infancy. Nails may be thick and dystrophic (summary by Has et al., 2020). Localized epidermolysis bullosa simplex has previously been known as the Weber-Cockayne type. For a discussion of genetic heterogeneity of the subtypes of EBS, see EBS1A (131760). Reviews Has et al. (2020) reviewed characteristic features and molecular bases of the subtypes of epidermolysis bullosa, and provided a consensus reclassification of disorders with skin fragility.  http://www.omim.org/entry/619594

Clinical features

From HPO
Onychomadesis
MedGen UID:
120483
Concept ID:
C0263540
Finding
Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth.
Dystrophic toenail
MedGen UID:
318813
Concept ID:
C1833225
Finding
Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.
Palmoplantar blistering
MedGen UID:
870430
Concept ID:
C4024876
Finding
A type of blistering that affects the skin of the palms of the hands and the soles of the feet.

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