A novel aagab mutation in a peruvian family with punctate palmoplantar keratoderma

Gómez-García A.C.; Salas-Alanís J.C.; Bar-Fernandez N.; Mendoza-Meza R.; Díaz-Montes S.M.; Fajardo-Ramírez O.R. · Acta Dermatovenerologica Alpina, Pannonica et Adriatica (2021) · DOI: 10.15570/actaapa.2021.11

Resumen

Buschke–Fischer–Brauer (BFB) disease is a rare keratoderma characterized by multiple hyperkeratotic lesions on the palms and soles, with an autosomal dominant pattern. In several countries, some genetic alterations have been associated with this clinical entity. A 68-year-old Peruvian woman presenting with hyperkeratotic lesions on both her palms and soles was diagnosed with BFB keratoderma. After sequencing of the genes that had previously been related to this disease, a mutation (c.249C>G) that was predicted to generate a termination codon (Tyr83*) was found in the alpha and gamma adaptin binding protein P34 gene (AAGAB). After treatment with 30% urea plus 10% salicylic acid, the patient experienced an improvement in her condition. Here we report a novel mutation in the AAGAB gene of a patient diagnosed with BFB keratoderma and a treatment that improved her symptoms.