Skin fragility - plakoglobin deficiency (Q99248): Difference between revisions
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Síndrome de fragilidade cutânea autossômica recessiva rara devida a mutações no gene JUP, que codifica a placoglobina, uma proteína essencial para a integridade epidérmica. Apresenta-se com erosões generalizadas, cabelos lanosos esparsos, distrofia ungueal e ceratodermia palmoplantar focal. | |||
| description / en | description / en | ||
A rare autosomal recessive skin fragility syndrome due to mutations in the JUP gene which encodes plakoglobin, a protein essential for epidermal integrity. It presents with widespread erosions, sparse woolly hair, nail dystrophy and focal palmoplantar keratoderma. | |||
Revision as of 15:54, 16 August 2026
A rare autosomal recessive skin fragility syndrome due to mutations in the JUP gene which encodes plakoglobin, a protein essential for epidermal integrity. It presents with widespread erosions, sparse woolly hair, nail dystrophy and focal palmoplantar keratoderma.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1145805364 |
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| English | Skin fragility - plakoglobin deficiency |
A rare autosomal recessive skin fragility syndrome due to mutations in the JUP gene which encodes plakoglobin, a protein essential for epidermal integrity. It presents with widespread erosions, sparse woolly hair, nail dystrophy and focal palmoplantar keratoderma. |
