Abstract

Neurocutaneous diseases represent a broad group of disorders that primarily involve the central and peripheral nervous systems and the skin. These conditions are often associated with dysmorphic facial features and possible visceral organ involvement, and they exhibit diverse genetic, clinical, and pathological characteristics. This study aimed to retrospectively evaluate the clinical and laboratory findings of patients diagnosed with neurocutaneous diseases and compare them with the existing literature. A total of 133 patients who presented to the pediatric neurology outpatient clinic of our hospital were included. Of these, 65 (48.9%) were female and 68 (51.1%) were male, with a mean age of 11.12 ± 5.26 years. The most common diagnoses were neurofibromatosis type 1 (NF-1) in 97 patients (72.9%) and tuberous sclerosis complex (TSC) in 32 patients (24.1%). In addition, two patients (1.5%) were diagnosed with incontinentia pigmenti, one (0.8%) with Sturge-Weber syndrome, and one (0.8%) with epidermal nevus syndrome. The most frequent presenting symptom was skin lesions (32.3%), followed by seizures (24%). On physical examination, all patients exhibited dermatological findings. Among NF-1 patients, 49 were male and 48 female, with a mean age of 12.1 ± 4.96 years. In the TSC group, there was an equal gender distribution, with a mean age of 8.68 ± 5.3 years. Our findings highlight the predominance of NF-1 and TSC in pediatric practice and underscore the importance of early dermatological clues in diagnosis. Multidisciplinary management remains crucial due to the progressive nature of these conditions.

Key words: Neurocutaneous syndromes, neurofibromatosis type 1, tuberous sclerosis complex, i̇ncontinentia pigmenti, sturge-weber syndrome, epidermal nevus syndrome