Skin fragility syndrome

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Skin fragility syndrome
Classification and external resources
OMIM 604536

Skin fragility syndrome (also known as "Plakophilin 1 deficiency") is a cutaneous condition characterized by trauma-induced blisters and erosions.[1]

It is associated with PKP1.[2]

See also[edit]

References[edit]

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  2. ^ McMillan JR, Haftek M, Akiyama M et al. (July 2003). "Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1". J. Invest. Dermatol. 121 (1): 96–103. doi:10.1046/j.1523-1747.2003.12324.x. PMID 12839569.