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a skin condition marked by an overgrowth of layers of horny skin

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/02/03 13:30:31」(JST)

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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]

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.^[6]

References[edit]

^ Online 'Mendelian Inheritance in Man' (OMIM) 248300
^ ^a ^b ^c 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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English Journal

Arsenic Keratosis in a Patient from Newfoundland and Labrador, Canada: Case Report and Review.

Pratt M1, Wadden P1, Gulliver W2.
Journal of cutaneous medicine and surgery.J Cutan Med Surg.2015 Aug 3. pii: 1203475415599342. [Epub ahead of print]
BACKGROUND AND OBJECTIVE: Millions of people worldwide suffer from chronic arsenic poisoning due to contaminated drinking water. The devastating effects of chronic arsenic ingestion are multisystem, but depending on the dose and frequency of exposure, may take many years to become clinically apparen
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Role of linoleic acid in arsenical palmar keratosis.

Ahmed TS1, Misbahuddin M2.
International journal of dermatology.Int J Dermatol.2015 Jul 31. doi: 10.1111/ijd.12831. [Epub ahead of print]
BACKGROUND: Chronic arsenic exposure can lead to palmoplantar keratosis. In the stratum corneum of skin, linoleic acid is of the utmost importance to the inflammation, keratinization, and regeneration processes.OBJECTIVES: The aims of this study were: (i) to present quantitative information on the l
PMID 26235890

A novel mutation in SLURP1 in patients with mal de Meleda from the Indian subcontinent.

Nellen RG1, Claessens T1, Subramaniam R2, Betkerur J2, Prashanth A3, Steijlen PM1, Geel MV4.
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PMID 26254200

Japanese Journal

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澤村紀子,原田直彦,伊原栄吉,柿ケ尾佳奈,杉満紀子,原口和大,水谷孝弘,吉本剛志,河邉顕,福嶋伸良,福泉公仁隆,中牟田誠,吉村理江,中村和彦
日本消化器病學會雜誌 = The Japanese journal of gastro-enterology 109(4), 593-599, 2012-04-05
症例は50歳代男性．病歴は，2009年Cowden病を疑われ当科紹介受&#x8 …
NAID 10030560566