New insights into neurocutaneous melanosis

Jakchairoongruang, Ketsuda; Khakoo, Yasmin; Beckwith, Mark; Barkovich, A. James

doi:10.1007/s00247-018-4205-x

Cited by 45 publications

(34 citation statements)

References 31 publications

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“…NCM is rare and it encompasses both leptomeningeal melanosis and CNS melanosis (3). The prevalence of NCM in association with CMN is directly proportional to CMN size, number, and location.…”

Section: Discussionmentioning

confidence: 99%

“…Clinical follow-up of CMN in children includes MRI screening when the CMN is defined as large-giant, being multiple satellites, and located in the posterior axis areas, even with no obvious CNS symptoms. Early imaging is optimal to provide the greatest sensitivity for diagnosis and to guide proper management (3). MRI is much more sensitive than CT for the detection of melanin, and it is the best method to evaluate the involvement of the leptomeninges (1).…”

Section: Discussionmentioning

confidence: 99%

“…MRI is much more sensitive than CT for the detection of melanin, and it is the best method to evaluate the involvement of the leptomeninges (1). MRI displays melanotic brain lesions (T1 hyperintense and T2 hypointense compared with normal immature brain), resulting from the paramagnetic properties of stable free radicals within melanin pigment (3). However, MRI cannot distinguish benign from malignant melanocytes.…”

Section: Discussionmentioning

confidence: 99%

“…Neurocutaneous melanosis (NCM) is a rare disorder characterized by the presence of benign or malignant pigment cell tumors of the leptomeninges in association with large or multiple CMN (3). Melanocytic cells are found in large number (in nodules or diffusely distributed) in the leptomeninges of the brain and/or spinal cord.…”

Section: Introductionmentioning

confidence: 99%

“…Melanocytic cells are found in large number (in nodules or diffusely distributed) in the leptomeninges of the brain and/or spinal cord. High risk features of CMN that carry an increased risk of NCM include, large size, location at the posterior axis (head, neck, and paravertebral regions), and being multiple satellite lesions (1, 3–5).…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Neurocutaneous Melanosis in Association With Large Congenital Melanocytic Nevi in Children: A Report of 2 Cases With Clinical, Radiological, and Pathogenetic Evaluation

et al. 2019

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Background: Melanocytic nevi present at birth, or within the first few months of life, are defined as congenital melanocytic nevi (CMN). Neurocutaneous melanosis (NCM) is a rare disorder, represents pigment cell tumors of the leptomeninges, and occurs in association with large or multiple CMN. NCM carries an extremely poor prognosis. NRAS and BRAFV600E genetic mutations were reported in CMN. Our aim was to report 2 rare cases of NCM associated with large-sized CMN.Materials and Methods: Two cases were enrolled, a 19-month-old boy with multiple satellite and giant CMN (GCMN); and a 57-month-old girl with large CMN (LCMN). Both patients had central nervous system (CNS) symptoms, and therefore, were studied from clinical, radiological, and immunohistopathological aspects. Cytogenetic study was done for one of them.Results: Both patients had CMN located in the head/neck, with no cutaneous melanoma. MRI was the most reliable method for early detection of NCM. NCM was proved in the 2 studied cases by immunohistopathology performed after surgery. The boy with GCMN carried NRAS mutation at codon 61, in addition to the characteristic facial features relevant to RASopathies. Both patients died despite surgical intervention.Conclusion: Our report highlights the need for pediatricians to be alert to the risk of NCM in association with CMN, especially when a CMN lesion is large, or there are multiple satellite lesions, or the nevus location is at the head or neck. Moreover, in the setting of CMN, the absence of skin melanoma does not exclude the presence of NCM.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%