Meleda disease
| Meleda disease | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | Q82.8 (ILDS Q82.834) |
| OMIM | 248300 |
| Patient UK | Meleda disease |
| Orphanet | 87503 |
Meleda disease (MDM) or "mal de Meleda", also called Mljet disease, keratosis palmoplantaris and transgradiens of siemens,[1] (also known as "Acral keratoderma,"[2] "Mutilating palmoplantar keratoderma of the Gamborg-Nielsen type,"[2] "Palmoplantar ectodermal dysplasia type VIII",[2]:508 and "Palmoplantar keratoderma of the Norrbotten type"[3]) is an extremely rare autosomal recessive[4] congenital skin disorder in which dry, thick patches of skin develop on the soles of the hands and feet, a condition known as palmoplantar hyperkeratosis.[5]:214
Genetic prevalence
MDM is most common on the Dalmatian island of Mljet (or Meleda), thought to be because of a founder effect. It is of autosomal recessive inheritance. It may be caused by a mutation on the SLURP1 gene, located on chromosome 8.[6]
See also
References
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- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 248300
- ↑ 2.0 2.1 2.2 Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
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- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ↑ http://ghr.nlm.nih.gov/gene/SLURP1
