词条 | Peeling skin syndrome |
释义 |
| name = Peeling skin syndrome | synonyms = | image = | caption = | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Peeling skin syndrome (also known as "Acral peeling skin syndrome", "Continual peeling skin syndrome", "Familial continual skin peeling", "Idiopathic deciduous skin", and "Keratolysis exfoliativa congenita"[1]) is an autosomal recessive disorder characterized by lifelong peeling of the stratum corneum, and may be associated with pruritus, short stature, and easily removed anagen hair.[2]{{rp|502}} The acral form can be associated with TGM5.[3][4] FrequencyOnly several dozen cases have been reported in the literature, making it rare, but because its symptoms are mild and similar to other disorders it could very well be under-diagnosed.[5] See also
References1. ^{{cite book |author=Rapini, Ronald P. |author2=Bolognia, Jean L. |author3=Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages=Chapter 56 |isbn=1-4160-2999-0 |oclc= |doi= |accessdate=}} 2. ^Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. {{ISBN|0-07-138076-0}}. 3. ^{{OMIM|609796}} 4. ^{{cite journal |vauthors=Cassidy AJ, van Steensel MA, Steijlen PM, etal |title=A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome |journal=Am. J. Hum. Genet. |volume=77 |issue=6 |pages=909–17 |date=December 2005 |pmid=16380904 |pmc=1285176 |doi=10.1086/497707 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)63377-1}} 5. ^{{cite web|title=Acral peeling skin syndrome|url=https://ghr.nlm.nih.gov/condition/acral-peeling-skin-syndrome|website=Genetics Home Reference|publisher=U.S. National Library of Medicine|accessdate=17 April 2018}} External links{{Medical resources| DiseasesDB = | ICD10 = {{ICD10|Q|80|8|q|80}} | ICD9 = | ICDO = | OMIM = 270300 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = }}{{Genodermatoses-stub}} 3 : Genodermatoses|Genetic disorders with OMIM but no gene|Syndromes |
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