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Meleda Disease
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
- ↑ 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.
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 778, 781. ISBN 1-4160-2999-0.
- ↑ 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.
- ↑ 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
Template:Congenital malformations and deformations of integument
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