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Case Report

Von Recklinghausen’s Disease: Case Report and Review of Literature

Siswanto Wahab, Welly Wijayanti, Sri Rimayani, Faridha Ilyas, Nurelly Waspodo, Farida Tabri.

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Neurofibromatosis type 1 (NF-1), formerly known as von Recklinghausen disease, is an autosomal dominant multisystem disorder characterized by skin manifestations, skeletal abnormalities and nervous system involvement. A typical case with a prevalence of 1: 2500 to 1: 3500 people, this case report can also be expected to provide additional insight. We report a case of a 14-year-old girl with complaints of skin and soft lumps in almost all body parts for the past 8 years. The appearance of multiple lenticular to plaque size café-au-lait macules since the age of one. In the gluteus region, plexiform neurofibroma is found with indistinct borders. The histopathological result supports the diagnosis of neurofibromatosis. The patient was also consulted by an ophthalmologist and found Lisch’s nodules in the left eye. Lumbosacral AP/ lateral radiography showed dextro-convex lumbar scoliosis. Based on the National Institutes of Health conference in 1987, NF-1 can be diagnosed when two or more out of seven diagnostic criteria are met. The patient was diagnosed with NF-1 and received surgical excision therapy.

Key words: Neurofibroma, Neurofibromatosis type 1, von Recklinghausen

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