Análise dermatológica sobre Paquioníquia Congênita: Relato de Caso

Abstract

Pachyonychia Congenita is a rare autosomal dominant genodermatosis. The children of an individual with Pachyonychia Congenita have a fifty percent chance of inheriting the disorder, but it is difficult for individuals with this disease to access adequate genetic counseling. Approximately one thousand and thirty-eight cases have been reported worldwide, thirty in Brazil, according to the International Research Registry on Pachyonychia Congenita. The diagnosis is based on the classic triad that includes nail dystrophy, keratoderma and plantar pain. From a dermatological perspective, nail findings and oral leukokeratosis of the tongue are the earliest manifestations of the disease. Currently, due to the lack of knowledge of an effective therapeutic method for the disease, treatment plans, as well as follow-up, must be instituted individually. The objective is to highlight the specific clinical findings of Pachyonychia Congenita, in order to differentiate it from other possible diagnoses. The methodology used comprises the review of the individual's medical records, diagnosed during routine care at a reference hospital, located in São Paulo. It is concluded, therefore, that the doctor's control of this rare syndrome is essential both for early diagnosis and adequate treatment. In addition to promoting the dissemination of medical knowledge to the scientific community.

Keywords: Pachyonychia Congenita. Rare genodermatosis. Classical triad.