Abstract
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.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Autoantigens / metabolism
-
Child
-
Collagen Type IV / metabolism
-
Collagen Type XVII
-
Conjunctival Diseases / genetics
-
Conjunctival Diseases / metabolism
-
Conjunctival Diseases / pathology*
-
DNA Mutational Analysis
-
Epidermolysis Bullosa, Junctional / genetics
-
Epidermolysis Bullosa, Junctional / metabolism
-
Epidermolysis Bullosa, Junctional / pathology*
-
Eyelid Diseases / genetics
-
Eyelid Diseases / metabolism
-
Eyelid Diseases / pathology*
-
Fluorescent Antibody Technique, Indirect
-
Granulation Tissue / pathology*
-
Humans
-
Laminin / genetics
-
Laryngeal Diseases / genetics
-
Laryngeal Diseases / metabolism
-
Laryngeal Diseases / pathology*
-
Male
-
Mutation
-
Non-Fibrillar Collagens / metabolism
-
Syndrome
Substances
-
Autoantigens
-
Collagen Type IV
-
Laminin
-
Non-Fibrillar Collagens
-
laminin alpha 3