Giant congenital melanocytic nevi: the significance of neurocutaneous melanosis in neurologically asymptomatic children

Plast Reconstr Surg. 2001 Apr 1;107(4):933-41. doi: 10.1097/00006534-200104010-00005.

Abstract

Patients with a giant congenital melanocytic nevus can develop melanotic tumors characterized by central nervous system involvement, termed leptomeningeal melanocytosis or neurocutaneous melanosis. Although symptomatic neurocutaneous melanosis is rare, we previously reported distinct magnetic resonance (MR) findings of T1 shortening, strongly suggestive of neurocutaneous melanosis, in 30 percent (6 of 20) of children with giant congenital melanocytic nevi who presented initially without neurological symptoms. The purpose of this study was to determine the incidence of neurocutaneous melanosis in high-risk patients and its long-term clinical significance. Magnetic resonance imaging was recommended for all 46 patients with "at-risk" giant congenital melanocytic nevi involving the skin overlying the dorsal spine or scalp. The clinical histories and follow-up of these patients were evaluated by retrospective chart review. Forty-two underwent MR imaging of the brain and 11 underwent additional MR scanning of the spinal cord. Abnormalities were identified in 14 of 43 MR studies, and 23 percent (n = 10) had T1 shortening indicative of melanotic rests within the brain or meninges. None had associated masses or leptomeningeal thickening. The most common areas of involvement in these 10 included the amygdala (n = 8), cerebellum (n = 5), and pons (n = 3). In the group of 11 patients with spinal MR scans, a tethered spinal cord was demonstrated in one. Additional abnormalities were detected by MR scanning, including a middle cranial fossa arachnoid cyst, a Chiari type I malformation, and a crescentic enhancement that subsequently resolved. Clinical follow-up averaging 5 years (range, 2 to 8 years) revealed that only one of the 46 patients evaluated developed neurological symptoms, manifested as developmental delay, hypotonia, and questionable seizures but no other signs of neurocutaneous melanosis. No patient has developed a cutaneous or central nervous system melanoma. Magnetic resonance findings of neurocutaneous melanosis are relatively common, even in asymptomatic children with giant congenital melanocytic nevi. Although these findings suggest an increased lifetime risk of central nervous system melanoma, they do not signify the eventual development of symptomatic neurocutaneous melanosis during childhood.

MeSH terms

  • Brain / abnormalities
  • Brain / pathology
  • Central Nervous System Neoplasms / congenital*
  • Central Nervous System Neoplasms / diagnosis
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Melanosis / congenital*
  • Melanosis / diagnosis
  • Neurologic Examination
  • Nevus, Pigmented / congenital*
  • Nevus, Pigmented / diagnosis
  • Precancerous Conditions / congenital*
  • Precancerous Conditions / diagnosis
  • Risk
  • Skin Neoplasms / congenital*
  • Skin Neoplasms / diagnosis
  • Spinal Cord / abnormalities
  • Spinal Cord / pathology