Identification of a novel variant of LAMB3 in a patient with a distinct junctional epidermolysis bullosa laryngo-onycho-cutaneous syndrome phenotype

Laryngo-onycho-cutaneous (LOC) is a rare subtype of junctional epidermolysis bullosa (JEB). We report the case of a girl with congenital LOC JEB with numerous cutaneous eroded plaques, oral ulcers, nail dystrophy and laryngeal involvement phenotypically consistent with this rare subtype and explore...

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Bibliographic Details
Published in:Clinical and experimental dermatology 2024-11
Main Authors: Suvarnakar, Aashka, Kahn, Michelle Schwartz, Derrick, Kristina M, Kabir, Soodeh, Glick, Sharon A
Format: Article
Language:English
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Summary:Laryngo-onycho-cutaneous (LOC) is a rare subtype of junctional epidermolysis bullosa (JEB). We report the case of a girl with congenital LOC JEB with numerous cutaneous eroded plaques, oral ulcers, nail dystrophy and laryngeal involvement phenotypically consistent with this rare subtype and explore the underlying genotype.
ISSN:0307-6938
1365-2230
DOI:10.1093/ced/llae403