When the skin alerts: diagnosis of neurocutaneous diseases in pediatrics

Abstract

Introduction. Phakomatoses comprise a heterogeneous group of genetically determined neurocutaneous disorders that primarily affect the skin and central nervous system. Their importance in pediatrics lies in the early detection of cutaneous signs that act as markers of underlying neurological disease. These conditions show variable progression, with manifestations that may include epilepsy, developmental delay, vascular abnormalities, and an increased risk of neoplasia. Management requires a comprehensive clinical evaluation and multidisciplinary follow-up.

Neurocutaneous disorders. Congenital melanosis is characterized by extensive pigmented nevi with possible leptomeningeal involvement, associated with a risk of melanoma and neurological complications. Incontinentia pigmenti, an X-linked dominant disorder, presents with evolving skin lesions and may be accompanied by neurological and ocular abnormalities. Sturge-Weber syndrome features facial angiomas in the trigeminal distribution and leptomeningeal vascular malformations, frequently associated with epilepsy and cognitive impairment. Tuberous sclerosis complex is distinguished by multisystem hamartomas, early-onset epilepsy, and neurodevelopmental disorders. Neurofibromatosis type 1, the most common neurocutaneous disorder, manifests with café-au-lait spots, neurofibromas, learning difficulties, development of nervous system tumors, and osteoarticular abnormalities.

Conclusions. Early recognition of phakomatoses allows the implementation of appropriate surveillance and timely treatment, improving prognosis. Detailed clinical evaluation, imaging studies, and genetic testing are essential. Management should be individualized, with emphasis on neuropediatric follow-up and family support.