Junctional epidermolysis bullosa, LOC (Q103910): Difference between revisions

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Latest revision as of 09:42, 17 August 2026

An autosomal recessive syndrome largely confined to children of Punjabi origin due to a mutation in the LAMA3 gene encoding laminin alpha-3a, a component of the lamina lucida. It is characterised by recurrent skin ulceration, shedding of nails, and granulomatous inflammation affecting the conjunctivae and vocal cords, which may result in blindness and fatal airway obstruction respectively.

Language	Label	Description	Also known as
default for all languages	ID_1555441738
English	Junctional epidermolysis bullosa, LOC	An autosomal recessive syndrome largely confined to children of Punjabi origin due to a mutation in the LAMA3 gene encoding laminin alpha-3a, a component of the lamina lucida. It is characterised by recurrent skin ulceration, shedding of nails, and granulomatous inflammation affecting the conjunctivae and vocal cords, which may result in blindness and fatal airway obstruction respectively.