Skin fragility syndrome explained
| Skin fragility syndrome |
| Synonyms: | Plakophilin 1 deficiency |
| Field: | Dermatology |
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
Notes and References
- Book: Rapini, Ronald P. . Bolognia, Jean L. . Jorizzo, Joseph L. . Dermatology: 2-Volume Set . Mosby . St. Louis . 2007 . 978-1-4160-2999-1 .
- McMillan JR, Haftek M, Akiyama M, etal . 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 . July 2003 . 12839569 . 10.1046/j.1523-1747.2003.12324.x . free .
