Article
Self-improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization of five patients from Southeast Asia.
American journal of medical genetics. Part A - 1 Feb 2021
Bishnoi Priya, Ng Yi Zhen, Wei Heming, Tan Ene-Choo, Lunny Declan P, Wong X F Colin C, Kin Fon Leong, Gondokaryono Srie Prihianti, Diana Inne Arline, Common John E A, Koh Mark J A, Lane E Birgitte
Abstract excerpt
Self-improving dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by significant improvement in skin fragility within the first few years of life. Genetic inheritance has previously been reported as autosomal dominant or recessive with both forms harboring mutations in COL7A1. To date, there have been no reports of this rare clinical entity from various...
Topics
- Asia, Southeastern
- Biopsy
- Child, Preschool
- Collagen Type VII
- Epidermolysis Bullosa Dystrophica
- Female
- Genetic Predisposition to Disease
- Humans
- Infant
- Infant, Newborn
- Male
- Skin Abnormalities