Medicine:Skin fragility syndrome
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(Redirected from Medicine:Plakophilin 1 deficiency)
| Skin fragility syndrome | |
|---|---|
| Other names | Plakophilin 1 deficiency |
| 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
- List of conditions caused by problems with junctional proteins
References
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ↑ "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. doi:10.1046/j.1523-1747.2003.12324.x. PMID 12839569.
External links
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