Café-au-lait macules in a cohort of Greek children genetically diagnosed with neurofibromatosis type 1: Prognostic significance beyond their diagnostic relevance.
Café-au-lait macules (CALMs) are often the earliest visible sign of neurofibromatosis type 1 (NF1), a genetic disorder with marked clinical variability. Early characterization of CALM patterns may aid in anticipating systemic disease burden.
To analyze the early appearance, anatomical distribution, and number of CALMs in children with genetically confirmed NF1 and explore associations with central nervous system (CNS) and skeletal manifestations.
We retrospectively reviewed children with genetically confirmed NF1 at a tertiary pediatric hospital in Athens, Greece (2018-2023). Demographic data, CALM count and distribution, mutation type, and systemic involvement were recorded. CALMs were documented through standardized dermatologic assessment and clinical photography. Statistical correlations were evaluated using nonparametric tests.
Sixty-three children (33 males, 30 females; mean age 7.5 ± 4.6 years) were included. All had more than 6 CALMs (mean 18.1 per child), most frequently on the thoracic region (53.6%). In 38.1% of patients, more than 6 CALMs were present by 6 months; among those with 6 or fewer at 6 months, 94.9% exceeded this threshold by 24 months. Children with 7-12 CALMs at 12 months had significantly higher frequencies of CNS and skeletal manifestations (P < .05).
CALMs were predominantly thoracic and showed the steepest increase between 6 and 12 months. Children with 7-12 CALMs at 12 months had greater systemic involvement, supporting early, risk-adapted surveillance strategies in pediatric NF1.
To analyze the early appearance, anatomical distribution, and number of CALMs in children with genetically confirmed NF1 and explore associations with central nervous system (CNS) and skeletal manifestations.
We retrospectively reviewed children with genetically confirmed NF1 at a tertiary pediatric hospital in Athens, Greece (2018-2023). Demographic data, CALM count and distribution, mutation type, and systemic involvement were recorded. CALMs were documented through standardized dermatologic assessment and clinical photography. Statistical correlations were evaluated using nonparametric tests.
Sixty-three children (33 males, 30 females; mean age 7.5 ± 4.6 years) were included. All had more than 6 CALMs (mean 18.1 per child), most frequently on the thoracic region (53.6%). In 38.1% of patients, more than 6 CALMs were present by 6 months; among those with 6 or fewer at 6 months, 94.9% exceeded this threshold by 24 months. Children with 7-12 CALMs at 12 months had significantly higher frequencies of CNS and skeletal manifestations (P < .05).
CALMs were predominantly thoracic and showed the steepest increase between 6 and 12 months. Children with 7-12 CALMs at 12 months had greater systemic involvement, supporting early, risk-adapted surveillance strategies in pediatric NF1.
Authors
Alexopoulos Alexopoulos, Ntokos Ntokos, Briana Briana, Pons Pons, Stefanaki Stefanaki, Kontara Kontara, Kanaka-Gantenbein Kanaka-Gantenbein, Nasi Nasi
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