| Literature DB >> 22640275 |
Begoña Echeverría-García1, Asunción Vicente, Ángela Hernández, Jose M Mascaró, Isabel Colmenero, Ana Terrón, María J Escámez, Marcela del Río, Maria A González-Enseñat, Antonio Torrelo.
Abstract
Epidermolysis bullosa simplex with mottled hyperpigmentation (EBS-MP) is an uncommon subtype of EBS. Its clinical features depend on the age of diagnosis, and clinical variations have been described even within family members. We present six cases from two unrelated Spanish families each with several affected members with EBS-MP and review the clinical and genetic findings in all reported patients. We highlight the changing clinical features of the disease throughout life.Entities:
Mesh：
Substances：
Year: 2012 PMID： 22640275 DOI： 10.1111/j.1525-1470.2012.01748.x
Source DB: PubMed Journal: Pediatr Dermatol ISSN： 0736-8046 Impact factor: 1.588