Neurofibromatosis 1: A Clinical Study In The Nigerian African.

Abstract

Neurofibromatosis 1 is a genetic disorder, inherited in an autosomal dominant fashion. The Neurofibromatosis 1 gene is located on chromosome 17q11. It is characterized by extreme clinical variability, but most patients have multiple neurofibromas, café-au-lait macules and iris harmatomas with increased risk for optic gliomas, osseus lesions and learning disabilities. Reports of the disease in Africans are relatively rare. Patients presenting to the Dermatology unit of the University of Benin Teaching Hospital, Benin City, Nigeria, with a diagnosis of neurofibromatosis – 1 (NF1) over a ten-year period (June 1991 to May 2001) formed the study population. Demographic data and details of clinical lesions were recorded during the clinical examination. Twenty-six patients with Neurofibromatosis 1, representing 0.54% of new dermatological patients were seen during the study period. There were 17 males and 9 females. Most presented in the third decade of life. The mean age at presentation was 26.15 years while the mean age at which symptoms were noticed was 15.41years. All had multiple neurofibromas and café-au-lait macules, while 88.5% had intertriginous freckling and 50% iris nevi. Two patients (7.7%) had a positive family history of the disease. At the time of presentation 88.5% of them were unmarried and only 3.9% could go beyond the secondary level of education. There is need to focus attention on the psychosocial rehabilitative management of these patients and also educate the populace about the non-infectious nature of the disease. Early specialist consultation and appropriate referral as well as long-term follow up will improve the quality of life of affected individuals. Keywords: Neurofibromatosis 1, Africans, Clinical features. Annals of Biomedical Science Vol. 1 (2) 2002: pp. 118-123