Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients.

Mutations in the AAGAB gene (15q22.33-q23) have recently been identified as one of the causes of PPKP1.

PPKP1 is mostly inherited in an autosomal-dominant manner. Genetic counseling is possible.

Mechanical removal of the hyperkeratosis is the most effective symptomatic treatment. Keratolytic creams can support the effect. In some patients with a severe phenotype, oral retinoids have been shown to reduce the symptoms.

Leave a Reply

2020 © MedweiSer Health

error: Content is protected !!