Počet záznamov: 1

epidermolysis bullosa dystrophica

Č. záznamu	d016108
Dátum	06.06.2025
Typ	M - MESH
Tematický termín	epidermolysis bullosa dystrophica
Iný termín	Angličtina (Pseudonym) Cockayne-Touraine Disease Angličtina (Pseudonym) Epidermolysis Bullosa, Dystrophic Angličtina (Pseudonym) Hallopeau-Siemens Disease
MDT	C16.131.831.493.160C16.320.850.275.160C17.300.200.367C17.800.804.493.160C17.800.827.275.160C17.800.865.410.160
Poznámka	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