Meleda disease

Meleda disease
Synonyms Keratosis palmoplantaris transgrediens of Siemens
Meleda disease has an autosomal recessive pattern of inheritance.
Specialty Medical genetics Edit this on Wikidata

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

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

  1. ↑ Online Mendelian Inheritance in Man (OMIM) 248300
  2. 1 2 3 Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  6. ↑ http://ghr.nlm.nih.gov/gene/SLURP1

Further reading

  • Gjurašić, Marija (June 2010). "Mljetska bolest (Mal de Meleda): promjene identiteta bolesti tijekom povijesti" [Meleda disease (Mal de Meleda): historical shifts in perception] (PDF). Acta medico-historica Adriatica (in Croatian). Rijeka: Croatian Scientific Society for the History of Health Culture. 8 (1): 17–58. Retrieved 10 August 2017.
Classification
External resources


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