WordNet
- a skin condition marked by an overgrowth of layers of horny skin
Wikipedia preview
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 |
Classification and external resources |
ICD-10 |
Q82.8 (ILDS Q82.834) |
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,"[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]
See also[edit]
- Palmoplantar keratoderma
- List of cutaneous conditions
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
UpToDate Contents
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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
- PMID 26239734
- 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.
- Journal of dermatological science.J Dermatol Sci.2015 Jul 26. pii: S0923-1811(15)30032-3. doi: 10.1016/j.jdermsci.2015.07.013. [Epub ahead of print]
- PMID 26254200
Japanese Journal
- 人間ドック時の特徴的な食道病変を契機に診断されPTEN遺伝子(exon5)変異を認めた Cowden 病の1例
- 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 …
- NAID 10030560566
- Pustulosis palmaris et plantaris with prominent hyperkeratosis of the soles
- TSUBOI Hiromi,KATSUOKA Kensei
- Journal of dermatology 33(12), 892-895, 2006-12-01
- NAID 10020338725
Related Links
- Palmoplantar keratosis information including symptoms, causes, diseases, symptoms, treatments, and other medical and health issues. ... Introduction: Palmoplantar keratosis Description of Palmoplantar keratosis Palmoplantar ...
- Posts about Palmoplantar keratosis written by FAOJ Editors ... by Al Kline, DPM 1 The Foot & Ankle Journal 2 (1): 3 Case presentations describing a congenital variation of palmoplantar keratosis are presented. The majority of these ...
- 1. Introduction Palmoplantar keratosis or palmoplantar keratoderma (PPK) constitutes a heterogeneous group of disorders characterized by excessive epidermal thickening of the palms and soles of affected individuals [1]. PPK can be ...
Related Pictures
★リンクテーブル★
[★]
- 英
- palmoplantar keratoderma、palmoplantar keratosis
- 関
- 掌蹠角化症、掌蹠角皮症、手掌角皮症
[★]
- 英
- palmoplantar keratoderma、palmoplantar keratosis
- 関
- 掌蹠角化症、掌蹠角皮症、手掌角化症
[★]
- 英
- palmoplantar keratoderma、palmoplantar keratosis
- 関
- 掌蹠角皮症、手掌角化症、手掌角皮症
[★]
掌蹠角化症、掌蹠角皮症、手掌角化症、手掌角皮症
- 関
- palmoplantar keratosis