A supraclavicular mass with skin macules «café-au-lait»: Neurofibromatosis 1

Abstract

Neurofibromatosis type 1 is a genetic disorder representing one of the most common forms of Von Recklinghausen’s disease. The neurofibromatoses are a group of heterogeneous, yet distinct, autosomal-dominant inherited neurogenetic disorders that include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. It is characterized by a large clinical polymorphism with the development of «café-au-lait» skin spots, benign tumors affecting the skin, peripheral nerves, optic pathway, and can involve the brain, bones, and vessels. We report the case of an 8-year-old child with neurofibromatosis type 1 diagnosis confirmed with clinical presentation and histological examination. He was referred for multidisciplinary management. There are clear diagnostic criteria according to a consensus (two or more criteria for diagnosis). The diagnosis is foremost clinical; the role of imaging is threefold: firstly, to confirm the diagnosis, secondly, to delineate extent of disease, and thirdly, suggests the type of the tumors in the affected patient. It helps to manage complications and follow-up. Histological examination confirms the diagnosis.