Neurofibromatose tipo 1

Uma mulher de 45 anos se apresentou no Servico de Pneumologia relatando cansaco, dispneia, nodulacoes na pele e manchas em todo o corpo. Apresentou diagnostico de neurofibromatose tipo 1, tambem conhecida como doenca de von Recklinghausen, uma das doencas de heranca autossomica dominante mais frequentes na especie humana e que sera objeto desta revisao. As manifestacoes dermatologicas classicas da NF caracterizam-se pela presenca de neurofibromas e manchas cafe com leite. Sera discutida aqui a importância do diagnostico dessa doenca de carater hereditario para possibilitar aconselhamento genetico a familia acometida e esclarecimento ao portador A 45-year-old female visited the pulmonology department reporting fatigue, dyspnea, skin nodules and stains throughout the body. She had the diagnosis of neurofibromatosis type 1, also known as von Recklinghausen's disease, one of the most frequent autosomal dominant diseases in humans, which will be the focus of this review. The typical skin manifestations of neurofibromatosis are characterized by the presence of neurofibromas and cafe au lait spots. Here we discuss the importance of diagnosing this hereditary disease in order to deliver genetic counseling and information to the carriers and their families