Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Meleda Disease
Introduction
Overview
Overview
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
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]
References
References
- ↑ 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
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