Ectodermal dysplasia – skin fragility syndrome (Q83165): Difference between revisions
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Síndrome da displasia ectodérmica - fragilidade cutânea é uma forma rara de epidermólise bolhosa suprabasal devida à placofilina 1 reduzida ou ausente como resultado de mutações no gene PKP1. É caracterizada por erosões e crostas na pele, distrofia ungueal, pelos esparsos lanosos e hiperceratose das palmas das mãos e plantas dos pés. | |||
| description / en | description / en | ||
Ectodermal dysplasia-skin fragility syndrome is a rare form of suprabasal epidermolysis bullosa due to reduced or absent plakophilin 1 as the result of mutations in the PKP1 gene. It is characterised by erosions and crusting of the skin, nail dystrophy, sparse woolly hair and hyperkeratosis of the palms and soles. | |||
Revision as of 08:31, 15 August 2026
Ectodermal dysplasia-skin fragility syndrome is a rare form of suprabasal epidermolysis bullosa due to reduced or absent plakophilin 1 as the result of mutations in the PKP1 gene. It is characterised by erosions and crusting of the skin, nail dystrophy, sparse woolly hair and hyperkeratosis of the palms and soles.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1711575115 |
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| English | Ectodermal dysplasia – skin fragility syndrome |
Ectodermal dysplasia-skin fragility syndrome is a rare form of suprabasal epidermolysis bullosa due to reduced or absent plakophilin 1 as the result of mutations in the PKP1 gene. It is characterised by erosions and crusting of the skin, nail dystrophy, sparse woolly hair and hyperkeratosis of the palms and soles. |
