Pityriasis rubra pilaris [1 gene]

Pityriasis rubra pilaris is a rare skin disease consisting of the appearance of palmoplantar keratoderma, keratotic follicular papules, and erythematous plaques covered with scales, all interspersed with islands of unaffected skin. Most cases are sporadic. Familial cases present an autosomal dominant inheritance with incomplete penetrance and variable expression. These cases usually appear congenitally or begin during the first years of life.

Pityriasis rubra pilaris: 1-9 / 1,000,000 (ORPHA:2897).

Recommended service when there is clinical certainty that the patient suffers from this disease and a genetic origin is suspected.

The benefits of a genetic diagnosis in this context are aimed at closing the diagnosis and family genetic counseling.

Service indicated when pityriasis rubra pilaris is diagnosed, and a genetic origin is suspected due to the presence of family history and the age and/or form of onset.