Document Detail

Epidermolysis Bullosa Simplex with Mottled Pigmentation: A Family Report and Review.
MedLine Citation:
PMID:  22640275     Owner:  NLM     Status:  Publisher    
  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.
Begoña Echeverría-García; Asunción Vicente; Angela Hernández; Jose M Mascaró; Isabel Colmenero; Ana Terrón; María J Escámez; Marcela Del Río; Maria A González-Enseñat; Antonio Torrelo
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-5-29
Journal Detail:
Title:  Pediatric dermatology     Volume:  -     ISSN:  1525-1470     ISO Abbreviation:  -     Publication Date:  2012 May 
Date Detail:
Created Date:  2012-5-29     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8406799     Medline TA:  Pediatr Dermatol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2012 Wiley Periodicals, Inc.
Department of Dermatology, Hospital Infantil Universitario Niño Jesus, Madrid, Spain Dermatology Service, Hospital San Juan de Dios, Barcelona Department of Dermatology, Hospital Clínico, Barcelona, Spain East of Scotland Regional Genetics Service, Ninewells Hospital, Dundee, UK Regenerative Medicine Unit, Epithelial Biomedicine Division, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) Madrid Department of Bioengineering, Universidad Carlos III, Madrid, Spain.
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