WordNet

an impairment of health or a condition of abnormal functioning
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

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(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
女性の話術芸人 =diseur
病気にかかった / 病的な,不健全な(morbid)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/09/20 06:41:58」(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

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

^ 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

Keratins K2 and K10 are essential for the epidermal integrity of plantar skin.

Fischer H1, Langbein L2, Reichelt J3, Buchberger M4, Tschachler E4, Eckhart L5.
Journal of dermatological science.J Dermatol Sci.2016 Jan;81(1):10-6. doi: 10.1016/j.jdermsci.2015.10.008. Epub 2015 Oct 22.
BACKGROUND: K1 and K2 are the main type II keratins in the suprabasal epidermis where each of them heterodimerizes with the type I keratin K10 to form intermediate filaments. In regions of the ears, tail, and soles of the mouse, only K2 is co-expressed with K10, suggesting that these keratins suffic
PMID 26603179

Papillon-Lèfevre syndrome with palmoplantar keratoderma and periodontitis, a rare cause of pyrexia of unknown origin: a case report.

Iqtadar S1, Mumtaz SU2, Abaidullah S3.
Journal of medical case reports.J Med Case Rep.2015 Dec 18;9(1):288. doi: 10.1186/s13256-015-0773-7.
INTRODUCTION: Papillon-Lefèvre Syndrome is a rare autosomal recessive disorder characterized by diffuse, transgradient palmoplantar keratoderma, destructive periodontitis beginning in childhood, premature loss of primary teeth, and frequent cutaneous and systemic pyogenic infections. Pyogenic liver
PMID 26683691

Keratosis lichenoides chronica: Case-based review of treatment options.

Pistoni F1, Peroni A1, Colato C2, Schena D1, Girolomoni G1.
The Journal of dermatological treatment.J Dermatolog Treat.2015 Dec 10:1-6. [Epub ahead of print]
Keratosis lichenoides chronica (KLC) is a rare dermatological condition characterized by keratotic papules arranged in a parallel linear or reticular pattern and facial lesions resembling seborrheic dermatitis or rosacea. The clinical, histological and therapeutic information on 71 patients with KLC
PMID 26652284