Počet záznamov: 1

epidermolysis bullosa dystrophica

Record number	d016108
Date	06.06.2025
Type	M - MESH
Topical term	epidermolysis bullosa dystrophica
Other term	English (Pseudonym) Cockayne-Touraine Disease English (Pseudonym) Epidermolysis Bullosa, Dystrophic English (Pseudonym) Hallopeau-Siemens Disease
UDC	C16.131.831.493.160C16.320.850.275.160C17.300.200.367C17.800.804.493.160C17.800.827.275.160C17.800.865.410.160
Note	Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.

predmetové heslo

Počet záznamov: 1