Document Detail


Epidermolysis bullosa simplex with mottled pigmentation: a family report and review.
MedLine Citation:
PMID:  22640275     Owner:  NLM     Status:  MEDLINE    
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; Ángela 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:  Case Reports; Journal Article; Review     Date:  2012-05-29
Journal Detail:
Title:  Pediatric dermatology     Volume:  30     ISSN:  1525-1470     ISO Abbreviation:  Pediatr Dermatol     Publication Date:    2013 Nov-Dec
Date Detail:
Created Date:  2013-11-28     Completed Date:  2014-08-18     Revised Date:  2014-11-18    
Medline Journal Info:
Nlm Unique ID:  8406799     Medline TA:  Pediatr Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  e125-31     Citation Subset:  IM    
Copyright Information:
© 2012 Wiley Periodicals, Inc.
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MeSH Terms
Descriptor/Qualifier:
Adult
Child, Preschool
Epidermolysis Bullosa Simplex / genetics*,  pathology*
Family Health
Female
Humans
Hyperpigmentation / genetics*,  pathology*
Infant
Keratin-5 / genetics*
Male
Pedigree
Skin / pathology
Chemical
Reg. No./Substance:
0/KRT5 protein, human; 0/Keratin-5

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


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