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Epidermolysis bullosa simplex 2B, generalized intermediate(EBS2B)

MedGen UID:
1794219
Concept ID:
C5562009
Disease or Syndrome
Synonyms: EBS2B; Epidermolysis bullosa simplex 2B, Koebner type
 
Gene (location): KRT5 (12q13.13)
 
Monarch Initiative: MONDO:0030525
OMIM®: 619588

Definition

Generalized intermediate epidermolysis bullosa simplex-2B (EBS2B) is an autosomal dominant disorder of skin in which intraepidermal blistering occurs after minor mechanical trauma. Skin blistering is generalized, begins at birth, and is worsened by heat, humidity, and sweating. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. Intermediate EBS has previously been known as the Koebner type (summary by Has et al., 2020). 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. [from OMIM]

Clinical features

From HPO
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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