RESUMEN
Bart-Pumphrey syndrome (BPS) is an autosomal-dominant disorder characterized by hearing loss, leukonychia, knuckle pads and palmoplantar keratoderma. Two mutations in the extracellular domain of GBJ2 are resposible for this syndrome. To date, less than 10 case reports or clinical series about BPS have been published in the literature. Hearing loss and knuckle pads are the more commonly seen findings of this syndrome. Three generations and six family members with variable findings of knuckle pads, leukonychia, hearing loss and palmoplantar hyperkeratosis were presented in this report. We want to emphasize that dermatogists must be alert during the evaluation of these findings because some findings of this disorder may be vague or absent.
Asunto(s)
Adolescente , Adulto , Síndrome de Behçet/diagnóstico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pruebas del Parche/métodosRESUMEN
A 20 year-old man presented to our clinic with multiple warts on both hands and tumoral lesions on his face but otherwise healthy. On dermatological examination, numerous brown-black papular lesions, changing from 2 to 5 cm in diameter were found on his face along with multiple, flesh-coloured, flat-topped papules on the dorsa of his hands. A tumoral lesion, approximately 3 cm in diameter on the right side of his forehead and desquamated erythematous macules were also observed on the trunk. Laboratory investigations showed that serum immunoglobulin M (IgM) level was decreased. The histopathological examination of verrucous lesions on the hands was consistent with epidermodysplasia verruciformis and the histopathological diagnosis of the tumoral lesion was squamous cell carcinoma.