ArticleCureus2022
A Clinico-Epidemiological Study of Neurofibromatosis Type 1 and Its Relation to Quality of Life: A Cross-Sectional Study From India.
Article in Cureus, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 3 citations in OpenAlex.
- Impact of neurofibromatosis type 1 on quality of life using the Skindex-29 questionnaire quality of life in NF1.Orphanet journal of rare diseases · 2024Article
- Analysis of visual evoked potentials in patients with neurofibromatosis type 1: new concepts.Frontiers in neurology · 2024Article
- Diagnosis and management of neurofibromatosis type 1 in Arabian Gulf Cooperation Council Region: challenges and recommendations.Frontiers in oncology · 2024Review
- Clinical Profile of Neurofibromatosis Type 1: Paediatric Patients from a Tertiary Care Centre.Indian journal of dermatologyArticle
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionNeurofibromatosis 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.
methodsWe 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.
resultsThis 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.
conclusionNF1 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.
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