Skin fragility syndrome
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| Skin fragility syndrome | |
|---|---|
| Other names | Plakophilin 1 deficiency |
 | |
| This condition is inherited in an autosomal recessive manner. | |
| Specialty | 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
References
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ↑ 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.
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