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Meleda Disease)
| Meleda disease |
| Classification and external resources |
| OMIM |
248300 |
Meleda disease (MDM) or "mal de Meleda", also called Mljet disease, keratosis palmoplantaris and transgradiens of siemens,[1] (also known as "Acral keratoderma," "Mutilating palmoplantar keratoderma of the Gamborg-Nielsen type," and "Palmoplantar ectodermal dysplasia type VIII"[2]:508) is an extremely rare autosomal recessive[3] 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.[4]:214
[edit] Genetic prevalence
Meleda disease has an autosomal recessive pattern of
inheritance.
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.[citation needed]
[edit] See also
[edit] References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 248300
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
- ^ Fischer J, Bouadjar B, Heilig R, Huber M, Lefèvre C, Jobard F, Macari F, Bakija-Konsuo A, Ait-Belkacem F, Weissenbach J, Lathrop M, Hohl D, Prud'Homme JF (April 2001). "Mutations in the gene encoding SLURP-1 in Mal de Meleda" (Free full text). Human molecular genetics 10 (8): 875–880. doi:10.1093/hmg/10.8.875. ISSN 0964-6906. PMID 11285253. http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=11285253.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
