Symptomatic neurocutaneous melanosis: mild clinical onset in a teenager.

Neurocutaneous melanosis (NCM) is a rare disorder characterised by giant or multiple melanocytic nevi and meningeal melanosis or melanoma. Onset of neurological symptoms is typically in children younger than 2 years and can be rapidly fatal. We present the case of a 13-year-old adopted girl presenting with numerous congenital melanocytic nevi and a seizure. She had no significant previous neurological history. Electroencephalogram showed epileptiform discharges over the right frontal region. MRI of the brain showed T1 hyperintensity in the bilateral amygdala and anterior temporal lobes with corresponding hyperintensity on T2 and fluid attenuated inversion recovery. There was no hydrocephalus. Along with the history of nevi, these imaging findings were concerning for NCM. The patient is being managed with levetiracetam and trametinib and shows no further neurological decline at 1-year follow-up, providing prognostic hope in this case of NCM.

Neurocutaneous Melanosis in Infancy: Always a Dismal Prognosis?

AIM: To analyze the current literature on neurocutaneous melanosis (NCM), as well as, our cases, in order to better define the prognosis and the presence of risk factors affecting it, thus, offering better information to the parents. MATERIAL AND METHODS: Two cases observed at the Pediatric Neurosurgery Unit of the Catholic University Medical School in Rome are described. Both of them had cutaneous stigmata and cerebral MR evidence of intracranial melanin deposits. These two children showed a very different clinical course. RESULTS: The present study enlighten the differences among the two cases and review the literature on the subject, with the attempt to understand which are clinical and disease related factors that might influence the prognosis. CONCLUSION: Beside malignant features of cutaneous melanotic lesions, the presence of hydrocephalus at diagnosis and the early appearance of clinical symptoms, when appearing contemporarily, are predicting the rapid progression of the disease and a worse prognosis.

Large congenital melanocytic nevi and neurocutaneous melanocytosis: one pediatric center's experience.

BACKGROUND: Large congenital melanocytic nevi (LCMN) predispose to neurocutaneous melanocytosis (NCM), which is associated with significant morbidity and mortality. OBJECTIVE: To identify risk factors for NCM in patients with LCMN and suggest guidelines for their management. METHODS: Medical records of patients with LCMN were reviewed at Sainte-Justine Hospital between 1980 and 2006. Presence of multiple satellite nevi and posterior midline location were evaluated as risk factors for NCM using chi-square test. Magnetic resonance imaging scans were reviewed by a neuroradiologist. RESULTS: Twenty-six of 52 patients underwent radiologic investigation. Six of 26 (23%) had NCM. Patients with this condition are more likely to have multiple satellite nevi (100% vs 50%, P = .03) and have a trend to posterior midline location of their LCMN (100% vs 60%, P = .08). Patients with NCM are more likely to have both multiple satellite nevi and posterior midline location (100% vs 25%, P = .002). Radiologic findings are also presented. LIMITATIONS: This was a retrospective case series with imprecise chart data in 38% of cases. CONCLUSION: The presence of multiple satellite nevi alone or with associated posterior midline location of LCMN is associated with a higher risk of NCM. We recommend magnetic resonance imaging testing before 4 months of age in patients with these features.

Large congenital melanocytic nevi and the risk for development of malignant melanoma and neurocutaneous melanocytosis.

OBJECTIVE: To determine the risk for developing malignant melanoma and neurocutaneous melanocytosis (NCM) in patients with large congenital melanocytic nevi. DESIGN: Follow-up data suitable for calculations were available on 160 patients in the New York University Registry of Large Congenital Melanocytic Nevi who had been free of known melanomas or NCM when entered into the Registry. The cumulative 5-year life-table risks for developing melanoma and NCM were calculated. The relative risk for developing melanoma, using a control general population reference group, was determined. RESULTS: The 160 patients (median age at entry: 14 months) were followed prospectively for an average of 5.5 years. Three extracutaneous melanomas developed: 2 were in the central nervous system (CNS) and 1 was retroperitoneal. The 5-year cumulative life-table risk for developing melanoma was 2.3% (95% confidence interval [CI]:.8-6.6) and the relative risk was 101 (95% CI: 21-296). No melanoma occurred within a large congenital melanocytic nevus. Four patients developed manifest NCM, 2 with CNS melanomas. The 5-year cumulative life-table risk for developing NCM was 2.5% (95% CI:.8-7.2). Ten patients were excluded from the calculations because of preexisting disease on entry into the Registry: 5 with manifest NCM and 5 with melanomas (3 in large congenital melanocytic nevi, 1 in nonnevus skin, and 1 unknown primary). CONCLUSIONS: Patients with large congenital melanocytic nevi are at increased risk for developing melanomas. There is also a significant increased risk for developing NCM. The high incidence of CNS involvement may influence decisions concerning treatment of the large congenital melanocytic nevi.