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Peeling skin syndrome information


Peeling skin syndrome
Peeling skin syndrome in the legs and feet
SpecialtyMedical genetics Edit this on Wikidata

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]: 502 

"Acral" refers to the fact that the peeling of the skin is most noticeable on the hands and feet of this state. Peeling happens sometimes on the arms and legs, too. The peeling is typically apparent from birth, although it may start in childhood or later on in life as well. Skin peeling is caused by sun, humidity, moisture, and friction.[3]

The acral form can be associated with TGM5.[4][5]

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. Chapter 56. ISBN 978-1-4160-2999-1.
  2. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  3. ^ Reference, Genetics Home. "Acral peeling skin syndrome". Genetics Home Reference. Retrieved 2020-04-29.
  4. ^ Online Mendelian Inheritance in Man (OMIM): 609796
  5. ^ Cassidy AJ, van Steensel MA, Steijlen PM, et al. (December 2005). "A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome". Am. J. Hum. Genet. 77 (6): 909–17. doi:10.1086/497707. PMC 1285176. PMID 16380904.

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