Document Detail


Epidermolysis Bullosa Simplex with Mottled Pigmentation: A Family Report and Review.
MedLine Citation:
PMID:  22640275     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
  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.
Authors:
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
Related Documents :
3341225 - Cardiac malformations in relatives of children with truncus arteriosus or interruption ...
8513055 - Trichinosis with ventilatory failure and persistent myocarditis.
3585935 - Endocardial fibroelastosis: possible x linked inheritance.
2193345 - Early diagnosis of nocardia asteroides endophthalmitis by retinal biopsy: case report a...
18485525 - Unusual granulomatous variant of scleromyxedema.
22020605 - Heterotopic ossification associated with rhbmp-2 (infuse) in posterolateral lumbar spin...
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.
Affiliation:
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.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Effect of Preeclampsia and Intrauterine Growth Restriction on Endothelial Progenitor Cells in Human ...
Next Document:  Chronic care model for the management of depression: Synthesis of barriers to, and facilitators of, ...