Endocrine Abstracts

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder characterized by the development of multiple benign tumors of the nerves and the skin (neurofibromas) and areas of abnormal increased and decreased coloration of the skin. Pheochromocytoma develops in 0.1–5.7% of NF1 patients and plexiform neurofibroma in 30% of NF1 patients. We present a case of a 38-year-old female, without relevant personal, with a familial phenotype suggestive for NF1, evaluated for ...