A Clinical Study of Neurofibromatosis With a Special Reference to Cutaneous Manifestations

Abstract

BACKGROUND Neurocutaneous disorders are a heterogeneous group of genetically determined diseases usually involving the skin and nervous system. Neurofibromatosis (NF) is a classical example of neurocutaneous disorder having autosomal dominant inheritance with 100% penetrance affecting around one in 3000 live births. Though there is high prevalence of genetic disorders in Kerala, a survey of the literature reveals only a few reports from South India about this disease. Hence, we decided to study neurofibromatosis as a model of genodermatosis, as this disease has the classical involvement of both skin and nervous system. The aims of the study were to assess the clinical spectrum, prevalence and inheritance pattern of neurofibromatosis in patients and their progeny, to study physical statistics and intelligence quotient of neurofibromatosis patients; and to evaluate the systemic involvement and complications. MATERIALS AND METHODS This cross-sectional descriptive study was done on 41 patients with neurofibromatosis who attended to a tertiary care hospital in Kerala. A detailed history, dermatologic and systemic examination, ophthalmological evaluation and IQ assessment were done in all patients. Results of physical examination and investigations were analysed by using appropriate biostatistics. RESULTS Frequency of neurofibromatosis was found to be high in our population. Significant proportion of patients had neurological and skeletal manifestations. Association with malignancy was also observed in our study. CONCLUSION If a medical examination along with IQ assessment is done at the time of admission to school, all cases of NF can be detected early and its future complications can be reduced.