Abstract
Introduction: Neurofibromatosis type 1 (NF1) is an inherited neuroectodermal abnormality with multisystem effects, which can have heavy psychological and physical burdens, especially in countries like India, wherein skin disease is significantly stigmatized. This study was performed to understand the clinical and epidemiological trends of NF1 at a tertiary care center in India and evaluate the association between clinical severity and quality of life in these patients.Methods: We conducted a cross-sectional study of 40 patients with NF1 over a period of two years at a tertiary hospital in western India. After obtaining consent, demographic and clinical information was collected from the patients and recorded in a pre-designed proforma. Quality of life was assessed by a validated Dermatology Life Quality Index (DLQI) questionnaire in languages understood by the patients and subsequently analyzed.Results: This study included 40 patients at a mean age of 28.6 years, with a slight male predominance. The most frequently occurring lesions were café-au-lait macules, followed by neurofibromas and intertriginous freckling. The mean DLQI score was 12.35, implying a large effect on most patients' lives. Questions related to self-consciousness, embarrassment, and the influence of skin lesions on clothing choices had the highest scores, indicating a significant effect on social perception.Conclusion: NF1 has a profound impact on a patient’s quality of life, as evidenced by the high DLQI scores in our patient cohort. The early identification and management of such patients can help prevent further deterioration of their quality of life.
Highlights
Neurofibromatosis type 1 (NF1) is an inherited neuroectodermal abnormality with multisystem effects, which can have heavy psychological and physical burdens, especially in countries like India, wherein skin disease is significantly stigmatized
We aimed to evaluate the psychological impact of NF1 on an Indian population, gauge their quality of life (QoL), and understand the extent of disease burden by using the Dermatology Life Quality Index (DLQI) questionnaire
This cross-sectional study enrolled 40 patients with NF1 reporting to the dermatology clinic in a tertiary hospital in western India, across a span of 24 months
Summary
Neurofibromatosis type 1 (NF1) is an inherited neuroectodermal abnormality with multisystem effects, which can have heavy psychological and physical burdens, especially in countries like India, wherein skin disease is significantly stigmatized. Neurofibromatosis type 1 (NF1) is an inherited neuroectodermal disease, primarily defined by the presence of six or more café‐au-lait macules, intertriginous freckles, two or more neurofibromas, Lisch nodules, bony defects like sphenoid dysplasia, and optic gliomas. It is an autosomal dominant condition with an estimated prevalence of one in 2500-3300 births, with 50% of cases occurring due to sporadic gene mutations [1]. Dermatological manifestations appear early in life and progress with age, but neurological features usually present at a later age [2]. Since the initial presentation of NF1 is mainly confined to the skin, patients usually
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