Catalog

Junctional epidermolysis bullosa, LOC

No MMS code

Link to WHO Definition

Junctional epidermolysis bullosa, LOC – http://id.who.int/icd/entity/1555441738

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.