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词条 Peeling skin syndrome
释义

  1. Frequency

  2. See also

  3. References

  4. External links

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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]

Frequency

Only 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

  • Idiopathic calcified nodules of the scrotum
  • Keratolysis exfoliativa
  • List of cutaneous conditions

References

1. ^{{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
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| OMIM = 270300
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}}{{Genodermatoses-stub}}

3 : Genodermatoses|Genetic disorders with OMIM but no gene|Syndromes

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