Melanosis neurocutánea: la sinergia entre el dermatólogo y el neurólogo

Abstract

Neurocutaneous melanosis is a rare congenital disease that can be either benign or malignant, characterized by the proliferation of melanocytes in the central nervous system and the presence of giant congenital melanocytic nevi. The presence of neurocutaneous melanosis results from a sporadic postzygotic somatic mutation, primarily in the NRAS proto-oncogene and less commonly in BRAF. Diagnosis requires a thorough physical and neurological examination, as well as the use of diagnostic imaging studies. Various treatment approaches range from diverse surgical and procedural therapies to conservative management. The prognosis for asymptomatic patients is unpredictable, whereas symptomatic patients have a poor prognosis. Although it is a rare entity, recognizing its existence, risk factors, and clinical presentation can significantly impact the quality of life of affected patients and their caregivers. This disease requires comprehensive management by a multidisciplinary team, led by a dermatologist and a neurologist, to ensure quality care and timely response to the needs of patients with congenital melanocytic nevi.