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Neurofibromatosis Type 1 (NF1): Case Report and Review of literature

Neurofibromatosis type 1 (NF1) or Von Recklinghausen's disease is a rare genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormally decreased or increased coloration of the skin. We present a case of 11-year-old boy with NF-1. The disease started in childhood with the appearance of multiple hyper pigmented skin macules. The boy presents excruciating lower back pain and lumbar scoliosis. The diagnosis NF-1 was made according to the presence of two or more diagnostic criteria of the National Institute of Health Consensus Development Conference. NF1 is a multisystem disorder requiring management by multiple disciplines, often coordinated through a primary care physician or a geneticist and dermatologist.


Chouaib Sayah, Mahmoud Benmahmoud, Smain Ait Yahia and Zineddine Soualili

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