Abstract
Mal de Meleda is a rare autosomal recessive genodermatosis caused by mutations in the ARS B (SLURP1) gene, with possible founder effects in the Mediterranean and Adriatic regions. We report an affected individual from Indonesia without known consanguinity in the family, suggesting that SLURP1 gene mutations are ubiquitous. Recognition of the phenotype can be confirmed by genetic testing, thus facilitating genetic counselling.
Original language | English |
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Pages (from-to) | e11-e13 |
Number of pages | 3 |
Journal | Australasian Journal of Dermatology |
Volume | 57 |
Issue number | 1 |
DOIs | |
Publication status | Published - 1 Feb 2016 |
Externally published | Yes |
Keywords
- ARS component B
- gene
- genodermatosis
- Mal de Meleda
- palmoplantar keratosis
- SLURP1