Peeling skin syndrome

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Peeling skin syndrome
Specialty Medical 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

The acral form can be associated with TGM5.[3][4]

Frequency[edit]

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[edit]

References[edit]

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. Chapter 56. ISBN 1-4160-2999-0. 
  2. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  3. ^ Online Mendelian Inheritance in Man (OMIM) 609796
  4. ^ 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 1285176Freely accessible. PMID 16380904. 
  5. ^ "Acral peeling skin syndrome". Genetics Home Reference. U.S. National Library of Medicine. Retrieved 17 April 2018. 

External links[edit]

Classification