Preferred Label : Junctional epidermolysis bullosa, LOC;
ICD-11 definition : 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.;
ICD-11 synonym : JEB-LOC - [junctional epidermolysis bullosa laryngo-onycho-cutaneous] syndrome; JEB-LOC syndrome; Shabbir syndrome; LOC syndrome; Laryngo-onycho-cutaneous syndrome; LOGIC; LOC - [laryngo-onycho-cutaneous] syndrome;
Origin ID : 1555441738;
Automatic exact mappings (from CISMeF team)
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.
