familial case of pachyonychia congenital

Pachyonychia congenita [PC] comprises a group of rare autosomal genodermatosis caused by mutation in any of the four genes KRT6A, KRT6B, KRT16 or KRT17. Classically, it is subdivided into two major variant types, PC-1 [Jadassohn-Lewandowski syndrome] and PC-2 [Jackson-Lawler syndrome]. We hereby report a case of 22-year-old, married woman with progressive thickening and discoloration of all 20 nails, multiple, hyperkeratotic lesions present all over the body with oral lesions since childhood. She had a 2-month-old male baby [the only child] who presented with similar lesions of yellowish discoloration and nail thickening of both nails and foot since birth. She was diagnosed as PC type 1

Caso para diagnóstico / Case for diagnosis

Esteatocistoma múltiplo é um raro transtorno genético autossômico dominante que se caracteriza por múltiplos cistos dérmicos de tamanho variável e assintomáticos. Descreve-se o caso de um paciente do sexo masculino, de 23 anos, com quadro clínico e evolutivo típicos dessa desordem.

Steatocystoma multiplex is a rare genetic disorder, autosomal dominant, that is characterized by multiple asymptomatic dermal cysts which vary in size. It is described here the case of a 23 year-old male patient with a typical clinical and evolutional progression of this disease.

Pachyonychia congenita with unusual features.

Pachyonychia congenita is a rare hereditary disorder characterized by gross thickening of all finger and toenails. We report an infant who had clinical features consistent with pachyonychia congenita type II, with unusual features of microcephaly, seizures, electroencephalogram abnormalities, failure to thrive, and heterochromia iridis.

Dermatology case diagnosis, Steatocystoma multiplex

A patient with multiple subcutaneous mobile lesions limited to forearms is presented. Pathologic review of the biopsy confirmed the diagnosis