Skin fragility syndrome

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Skin fragility syndrome
Other names: Plakophilin 1 deficiency
PMC4533569 IJD-60-421e-g003.png
Ectodermal Dysplasia-Skin Fragility Syndrome- Keratinized stratified squamous epithelium revealing blister formation in stratum spinosum
SpecialtyDermatology

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

References

  1. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  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.

External links

Classification