Junctional epidermolysis bullosa, LOC (Q103910): Difference between revisions
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Síndrome autossômica recessiva amplamente confinada a crianças de origem Punjabi devida a uma mutação no gene LAMA3, que codifica a laminina alfa-3a, um componente da lâmina lúcida. É caracterizada por ulceração recorrente da pele, descamação das unhas e inflamação granulomatosa que afeta a conjuntiva e as cordas vocais, o que pode resultar em cegueira e obstrução fatal das vias aéreas, respectivamente. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
