Neurofibromatose tipo 1 Neurofibromatosis type 1

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.