Preferred Label : Epidermolysis bullosa pruriginosa;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Deb, pruriginosa; Dystrophic epidermolysis bullosa pruriginosa;
Description : Dystrophic epidermolysis bullosa is an inherited skin fragility disorder associated
with anchoring fibril abnormalities and sublamina densa blistering. EB pruriginosa
is a rare distinct clinical subtype of dystrophic EB in which skin fragility, blistering,
and scar formation are associated with intense pruritus, nodular prurigo-like lichenified
lesions, nail dystrophy, and variable presence of albopapuloid lesions (McGrath et
al., 1994; Cambiaghi et al., 1997). The onset of these clinical features may be evident
in early childhood, but in some cases is delayed until the second or third decade
of life. Autosomal dominant, autosomal recessive, and sporadic inheritance patterns
have all been described in this disorder.;
Inheritance : Autosomal dominant; Autosomal recessive;
Molecular basis : Caused by mutation in the collagen type VII, alpha-1 gene (COL7A1, 120120.0009).;
Prefixed ID : #604129;
Origin ID : 604129;
UMLS CUI : C1275114;
Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
