Document Detail


Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome.
MedLine Citation:
PMID:  17362460     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Eye and adnexal involvement in epidermolysis bullosa can range from symptoms of mild irritation resulting from conjunctival involvement to severe cicatrization of the ocular surface and adnexa. We describe a unique case of granulation tissue in the eyelid margin and conjunctiva in a patient with junctional epidermolysis bullosa. The eyelid granulation tissue resembled granulomas that seen in laryngo-onycho-cutaneous syndrome, which is caused by a mutation in an isoform of the LAMA3 gene, LAMA3a. On investigation, our patient had a combination of a unique mutation in LAMA3 and the mutation I17N in LAMA3a, providing further evidence that laryngo-onycho-cutaneous syndrome is a variant of junctional EB.
Authors:
Edwin C Figueira; Anne Crotty; Christopher J Challinor; Minas T Coroneo; Dedee F Murrell
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical & experimental ophthalmology     Volume:  35     ISSN:  1442-6404     ISO Abbreviation:  Clin. Experiment. Ophthalmol.     Publication Date:  2007 Mar 
Date Detail:
Created Date:  2007-03-16     Completed Date:  2007-05-15     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100896531     Medline TA:  Clin Experiment Ophthalmol     Country:  Australia    
Other Details:
Languages:  eng     Pagination:  163-6     Citation Subset:  IM    
Affiliation:
Ophthalmology Department, Prince of Wales Hospital, Sydney, Australia.
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MeSH Terms
Descriptor/Qualifier:
Autoantigens / metabolism
Child
Collagen Type IV / metabolism
Conjunctival Diseases / genetics,  metabolism,  pathology*
DNA Mutational Analysis
Epidermolysis Bullosa, Junctional / genetics,  metabolism,  pathology*
Eyelid Diseases / genetics,  metabolism,  pathology*
Fluorescent Antibody Technique, Indirect
Granulation Tissue / pathology*
Humans
Laminin / genetics
Laryngeal Diseases / genetics,  metabolism,  pathology*
Male
Mutation
Non-Fibrillar Collagens / metabolism
Syndrome
Chemical
Reg. No./Substance:
0/Autoantigens; 0/Collagen Type IV; 0/Laminin; 0/Non-Fibrillar Collagens; 0/collagen type XVII; 170834-93-2/laminin alpha 3

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


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