Ectodermal dysplasia/skin fragility syndrome with mutations in plakophilin 1 Q82.8

McGrath 1997

Very rare, autosomal recessive genodermatosis caused by a mutation in the PKP1 gene located on 1q32.1 and coding for plakophilin 1.

Plakophilin 1 a desmosomal protein is normally expressed in the epidermis and hair follicles.

Clinically, diffuse reddening of the skin with increased skin exfoliation is already apparent at birth. In the summer months, blisters and erosions appear as signs of increased skin fragility. Over the years, there is also the development of palmoplantar keratosis with fissures and nail dystrophies. Non-scarring alopecia also occurs (Hernández-Martín A et al 2013).

An ectodermal dysplasia skin fragility syndrome with a PKP1 mutation and plakophilin deficiency has also been demonstrated in dogs (Olivry T et al. 2012).

1. Alatas ET et al (2017)Ectodermal dysplasia-skin fragility syndrome with a new mutation. Indian J Dermatol Venereol Leprol 83:476-479.
2. Hernández-Martín a et al (2013) Ectodermal dysplasia-skin fragility syndrome: a novel mutation in the PKP1 gene. Clin Exp Dermatol 38:787-90.
3. Olivry T et al (2012) Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs. PLoS One 7:e32072
4. Vázquez-Osorio I et al.(2017) A case of mosaicism in ectodermal dysplasia-skin fragility syndrome. Br J Dermatol 177:e101-e102.