Cafe -au-lait Macules Early Indicators of Pediatric Neurofibromatosis Type 1, Case Series
A recent retrospective case series published in the Indian Journal of Dermatology in August 2026 reveals that café-au-lait macules are vital early indicators of pediatric neurofibromatosis type 1, appearing in all twenty-five patients and already present at birth in eighty percent of them.
Neurofibromatosis Type 1 (NF1), also known as Von Recklinghausen disease, is an autosomal dominant neurocutaneous disorder with a combined global prevalence of approximately 1 in 3,190 patients. Because genetic testing remains limited to a few selected centers in underprivileged nations and there is a severe paucity of clinical data in India, Vibhu Mendiratta, Bharati Verma, and Ayushman Bindal from the Department of Dermatology and Sexually Transmitted Diseases at Lady Hardinge Medical College and Associated Hospitals in New Delhi, India, analyzed twenty-five cases to outline the clinical and systemic features of pediatric NF1.
Therefore, the retrospective case series analyzed the records of 25 children aged 2–18 diagnosed with Neurofibromatosis Type 1 using National Institutes of Health criteria at a Delhi hospital from 2021 to 2024. The primary endpoint was to comprehensively characterize their demographic, cutaneous, ophthalmic, neurological, and musculoskeletal features.
Key Clinical Findings of the Study Includes:
Widespread Café-au-Lait Macules: The study found that all twenty-five children in Mendiratta's study displayed café-au-lait macules ranging from seven to thirty-five lesions, with eighty percent presenting with them at birth and twenty percent during infancy.
Lower Freckling Rates: The evaluation identified axillary or inguinal freckling in fifty-two percent of patients, which represents a lower prevalence than the seventy percent rate reported in western India.
Comparable Lisch Nodules: The ophthalmic screenings detected Lisch nodules in fifty-two percent of children, aligning closely with the forty-seven point five percent and forty-two percent frequencies described in prior literature.
Elevated Developmental Delays: The cohort exhibited a twenty-four percent developmental delay rate—consisting of sixteen percent speech delay and eight percent gross motor delay—which is notably higher than the five to ten percent range noted in older cohorts.
Reduced Scoliosis Prevalence: The clinical assessments revealed scoliosis in only twelve percent of children, which is lower than the twenty-three point three percent rate documented in southern India.
The results suggest that because eighty percent of the twenty-five children presented with café-au-lait macules at birth, meticulous examinations during infancy are critical to securing early diagnostic clues. Furthermore, with fifty-two percent of patients showing a positive family history, genetic clinical surveillance is key to initiating multidisciplinary care across various specialties.
Thus, the study concludes clinicians should consider implementing routine annual multidisciplinary evaluations, including detailed ophthalmic, neurological, and skeletal assessments, to identify systemic complications early and optimize pediatric patient outcomes.
Although the study is constrained by its localized, single-center cohort of twenty-five patients, expanding clinical research across the Indian subcontinent would further elucidate regional disease variations and refine early diagnostic protocols.
Reference
Mendiratta V, Verma B, Bindal A. Clinical profile of neurofibromatosis type 1: Paediatric patients from a tertiary care centre. Indian Journal of Dermatology. 2026;71(4):306-309.
