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Scholars Journal of Applied Medical Sciences | Volume-7 | Issue 02
Case Report of Neurofibromatosis Type 1
Glory Tabita Unnamatla, Bindu Pinisetty, B.Anjiaiah
Published: Feb. 28, 2019 |
228
119
DOI: 10.36347/sjams.2019.v07i02.074
Pages: 778-781
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Abstract
Neurofibromatosis type 1 (NF1) or Von Recklinghausen's disease is a rare genetic disorder which is characterized by the formation of multiple benign tumors arising from the nerves and skin called as neurofibromas and consists of areas of hypopigmentation or hyperpigmentation of skin(café au lait macules). We report a case of 11 years old female child presented with complaints of swelling over forehead, both sides of neck and plantar aspect of foot. On examination multiple café au lait spots were seen. 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. Neurofibromatosis is an autosomal dominant disease that requires multidisciplinary approach requiring the care from paediatrician, ophthalmologist,dermatologist and advice of genetic counsellor..