Clinical Profile of Neurofibromatosis Type 1: Paediatric Patients from a Tertiary Care Centre

Abstract Neurofibromatosis Type 1 (NF1) is a genetic disorder involving multiple organ systems, primarily the nervous system and skin. It presents with diverse cutaneous, neurological, and systemic manifestations, many of which appear early in life (under 5 years of age). Early recognition of its clinical features is crucial for timely, multidisciplinary management. There is limited data on the clinical profile of paediatric NF1 in India. This case series describes the clinical characteristics of children diagnosed with NF1 in a tertiary care centre. The aim was to describe the clinical and systemic features of paediatric NF1 in the Indian population. Objectives included identifying early cutaneous signs, evaluating systemic involvement, assessing family history patterns, and emphasising the need for early diagnosis and coordinated care. The study was conducted at the paediatric dermatology outpatient department of a tertiary care hospital in Delhi. Records from a dedicated genodermatosis clinic were reviewed. Children fulfilling the NIH diagnostic criteria for NF1 were included. Clinical features, imaging findings, and systemic associations were extracted and analysed. Among 25 children diagnosed with NF1, 15 were females and 10 were males, with age at diagnosis ranging from 2 to 18 years. A positive family history was noted in 52% of cases. Café-au-lait macules (CALMs) were seen in all patients; 80% had them at birth. Neurofibromas were observed in 64%, including plexiform neurofibromas in 8%. Intertriginous freckling and Lisch nodules were each noted in 52% of cases. Developmental delay was seen in 24%, with gross motor and speech delays. Scoliosis was identified in 12%. No oral or cardiovascular abnormalities were found. This study highlights the importance of early dermatological and systemic screening in children with NF1. Timely recognition of clinical signs is essential for effective multidisciplinary management.