Neurocutaneous melanosis tends to be diagnosed in the first few years of life with no gender predilection reported 5,7. The condition is most frequently reported in Caucasians 7.
The disease is characterised by multiple melanotic nevi in the skin. Approximately two-thirds of patients have a giant nevus covering the back, known as a "bathing trunk" congenital nevus 7.
The diagnosis is often made when the child presents with hydrocephalus due to meningeal melanocytosis / meningeal melanomatosis (a.k.a. diffuse melanosis) 5. Occasionally a delayed presentation occurs towards the end of the second decade, in which case neuropsychiatric presentation is more common 7.
Diagnostic features have been proposed 2:
- unduly large or unusually numerous pigmented nevi in association with leptomeningeal melanosis or melanoma
- no evidence of malignant change in any of the cutaneous lesions
- no evidence of malignant melanoma in any organ apart from the meninges
It is believed that neurocutaneous melanosis is the result of congenital dysplasia of melanoblasts (melanocyte precursors) which are of neural crest cell origin 1,4,7. These are located in the leptomeninges, optic globes, inner ear, sinonasal cavity, and skin 1,4.
For leptomeningeal imaging features, please refer to meningeal melanocytosis.
In addition to or instead of leptomeningeal involvement, parenchymal changes are seen in some individuals characterised by T1 signal hyperintensity involving the mesial temporal lobes (particularly the amygdala), ventral pons and medulla, cerebellum, and inferior frontal lobes 6,7. It is believed this is due to melanocytes tracking along perivascular spaces 7.
Treatment and prognosis
Prognosis in symptomatic cases is extremely poor, even in the absence of malignant transformations, particularly when associated with a Dandy-Walker malformation 7. Hydrocephalus is the most common complication. Involvement of the cord also may result in myelopathy, syringomyelia, and arachnoiditis.
Malignant transformation of cutaneous nevi is variably reported from 2-13% 4.
Malignant transformation of CNS melanosis occurs very frequently, in up to 50% 5.
- 1. Di Rocco F, Sabatino G, Koutzoglou M et-al. Neurocutaneous melanosis. Childs Nerv Syst. 2004;20 (1): 23-8. doi:10.1007/s00381-003-0835-9 - Pubmed citation
- 2. Fox H. Neurocutaneous melanosis. In: Vinken PJ, Bruyn GW, eds. Handbook of Clinical Neurology. Amsterdam: North Holland;1972 :14:414–428
- 3. Chu WC, Lee V, Chan YL et-al. Neurocutaneous melanomatosis with a rapidly deteriorating course. AJNR Am J Neuroradiol. 2003;24 (2): 287-90. Pubmed citation
- 4. Painter TJ, Chaljub G, Sethi R, Singh H, Gelman B. Intracranial and intraspinal meningeal melanocytosis. AJNR. American journal of neuroradiology. 21 (7): 1349-53. Pubmed
- 5. Seth Love, David Louis, David W Ellison. Greenfield's Neuropathology, 2-Volume Set, Eighth Edition. ISBN: 9780340906811
- 6. Gocmen R, Guler E, Arslan EA. A case of neurocutaneous melanosis and neuroimaging findings. Journal of radiology case reports. 9 (3): 1-6. doi:10.3941/jrcr.v9i3.2141 - Pubmed
- 7. Smith AB, Rushing EJ, Smirniotopoulos JG. Pigmented lesions of the central nervous system: radiologic-pathologic correlation. Radiographics : a review publication of the Radiological Society of North America, Inc. 29 (5): 1503-24. doi:10.1148/rg.295095109 - Pubmed
- neurofibromatosis type 1 (NF1) (von Recklinghausen disease)
- neurofibromatosis type 2 (NF2) (mnemonic)
- tuberous sclerosis (Bourneville-Pringle disease)
- ataxia telangiectasia
- Sturge-Weber syndrome (encephalotrigeminal angiomatosis)
- von Hippel-Lindau disease (retinocerebellar angiomatosis)
- incontinentia pigmenti (Bloch-Sulzberger syndrome)
- basal cell naevus syndrome (Gorlin-Goltz syndrome)
- Wyburn-Mason syndrome (Bonnet-Dechaume-Blanc syndrome)
- encephalocraniocutaneous lipomatosis
- hypomelanosis of Ito
- Nijmegen breakage syndrome
- epidermal naevus syndrome
- neurocutaneous melanosis
- progressive facial hemiatrophy (Parry-Romberg syndrome)
- PHACE syndrome
- Cowden disease/COLD syndrome
- Gomez-Lopez-Hernandez syndrome