Spectrum of Clinical, Neuroimaging, and Cerebrospinal Fluid Features of Adult Neurocutaneous Melanocytosis

Eur Neurol. 2018;80(1-2):1-6. doi: 10.1159/000488687. Epub 2018 Jul 13.


Background: Neurocutaneous melanocytosis (NCM) is a poorly understood disease due to its rarity. This study aimed to summarize the characteristics of adult NCM and improve the awareness of this disease.

Methods: The clinical data of 13 adult patients with NCM were retrospectively reviewed, including neuroimages, cerebrospinal fluid (CSF), and histological features.

Results: There were 9 males and 4 females. The mean age at symptom onset was 36.5 years. The initial symptoms included intracranial hypertension in 8 patients and seizure in 4 patients. Ten patients had large and/or multiple congenital melanocytic nevi. MRI revealed hydrocephalus and diffuse thickening of the leptomeninges with T1 shortening in all patients. Post-contrast T1-weighted images showed diffuse linear enhancement of the leptomeninges. Lumbar punctures showed increased open pressure, and elevated protein levels and decreased glucose concentrations in CSF. Cells with intracytoplasmic coarse black granules were found in the CSF and were positive for S100, HMB45, and vimentin. Histopathology of the cutaneous lesions and meninges showed melanocytes but no evidence of malignant melanoma.

Conclusion: Adult NCM patients present a diversity of clinical manifestations. Brain MRI showing diffuse thickening of the leptomeninges with T1 shortening is useful in diagnosing NCM. Heterocellular melanin may be of great value for early diagnosis of NCM in challenging cases.

Keywords: Cerebrospinal fluid; Cytology; Diffuse meningeal melanomatosis; Melanocytic nevi; Neurocutaneous melanocytosis.

MeSH terms

  • Adult
  • Female
  • Humans
  • Male
  • Melanosis / cerebrospinal fluid*
  • Melanosis / diagnostic imaging*
  • Melanosis / pathology*
  • Meninges / diagnostic imaging
  • Meninges / pathology
  • Neurocutaneous Syndromes / cerebrospinal fluid*
  • Neurocutaneous Syndromes / diagnostic imaging*
  • Neurocutaneous Syndromes / pathology*
  • Neuroimaging
  • Retrospective Studies