Document Detail


Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
MedLine Citation:
PMID:  23289980     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Genetic mutations in the plectin gene (PLEC) cause autosomal recessive forms of epidermolysis bullosa simplex (EBS) associated with either muscular dystrophy (EBS-MD) or pyloric atresia (EBS-PA). Phenotype-genotype analysis has suggested that EBS-MD is due mostly to genetic mutations affecting the central rod domain of plectin, and EBS-PA to mutations outside this domain.
OBJECTIVES: This study aimed to describe new phenotypes of patients with EBS-MD and EBS-PA, to identify novel PLEC mutations and to establish genotype-phenotype correlations.
METHODS: Seven patients with a suspicion of EBS linked to PLEC mutations were included. A standardized clinical questionnaire was sent to the physicians in charge of each patient. Immunofluorescence studies of skin biopsies followed by molecular analysis of PLEC were performed in all patients.
RESULTS: We report the first case of nonlethal EBS-PA improving with age, the first multisystemic involvement in a patient with lethal EBS-PA, and the first patients with EBS-MD with involvement of either the bladder or oesophagus. Eleven novel PLEC mutations are also reported.
CONCLUSIONS: Our results confirm that EBS-PA is linked to mutations in the distal exons 1-30 and 32 of PLEC. Long-term survival is possible, with skin improvement, but a delayed onset of MD is probable. While EBS-MD is linked to PLEC mutations in all exons, in most cases one of the mutations affects exon 31. The precocity of MD seems to be linked to the type and localization of the PLEC mutation(s), but no correlation with mucosal involvement has been found.
Authors:
A Charlesworth; C Chiaverini; J Chevrant-Breton; M DelRio; A Diociaiuti; R P Dupuis; M El Hachem; B Le Fiblec; A M Sankari-Ho; A Valhquist; E Wierzbicka; J P Lacour; G Meneguzzi
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The British journal of dermatology     Volume:  168     ISSN:  1365-2133     ISO Abbreviation:  Br. J. Dermatol.     Publication Date:  2013 Apr 
Date Detail:
Created Date:  2013-03-26     Completed Date:  2013-09-19     Revised Date:  2013-11-04    
Medline Journal Info:
Nlm Unique ID:  0004041     Medline TA:  Br J Dermatol     Country:  England    
Other Details:
Languages:  eng     Pagination:  808-14     Citation Subset:  IM    
Copyright Information:
© 2013 The Authors. BJD © 2013 British Association of Dermatologists.
Affiliation:
French Centre for Hereditary Epidermolysis Bullosa, Archet 2 Hospital, Nice, France.
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MeSH Terms
Descriptor/Qualifier:
Adult
Child
Epidermolysis Bullosa Simplex / complications,  genetics*
Gastric Outlet Obstruction / complications
Genotype
Humans
Infant
Infant, Newborn
Muscular Dystrophies / complications
Mutation / genetics*
Phenotype
Plectin / genetics*
Pylorus / abnormalities
Chemical
Reg. No./Substance:
0/PLEC protein, human; 0/Plectin

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


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