Neurocutaneous melanocytosis (melanosis)

Ruggieri, Martino; Polizzi, Agata; Catanzaro, Stefano; Bianco, Manuela Lo; Praticò, Andrea D.; Rocco, Concezio Di

doi:10.1007/s00381-020-04770-9

Cited by 33 publications

(37 citation statements)

References 179 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…[2] Since then over 300 cases have been reported in literature. [3] Most cases are sporadic, with an equal gender predilection and they usually present before the age of 2 years. [4,5,6] Rarely NCM presents in adulthood.…”

Section: Discussionmentioning

confidence: 99%

Neurocutaneous melanosis with hydrocephalus and dandy-walker variant

Sarwar¹,

Tripathy²,

Jain³

et al. 2021

Asian J Neurosurg

View full text Add to dashboard Cite

Neurocutaneous melanosis (NCM) is one of the rare, congenital, noninheritable phakomatoses characterized by the presence of large and/or multiple congenital melanocytic cutaneous nevi associated with intracranial leptomeningeal melanocytosis. NCM usually presents before 2 years of age. So far 302 cases have been reported in literature. We report a case of NCM presenting with obstructive hydrocephalus and Dandy-Walker Variant in a young adult.

show abstract

Section: Discussionmentioning

confidence: 99%

Neurocutaneous melanosis with hydrocephalus and dandy-walker variant

Sarwar¹,

Tripathy²,

Jain³

et al. 2021

Asian J Neurosurg

View full text Add to dashboard Cite

show abstract

“…Studies have shown that male and female melanoma patients also have signi cant differences in prognosis, and women have a signi cant survival advantage over men [40]. Studies have also shown that: melanocytes produce a huge congenital skin melanocytic nevus due to the NRAS gene mutation and the BRAFV600E gene mutation, and the soft brain membrane melanocytosis through the N RAS gene mutation, activates the MAPK, PI3K / Ak t pathway, into the nervous system melanocytic melanoma [41]. Estrogen is a steroid hormone secreted by the ovary and placenta, with a wide range of physiological functions, while estrogen can also cross the blood-brain barrier in different parts of brain tissue to exert a neurological protective role [42].…”

Section: Introductionmentioning

confidence: 99%

Neurocutaneous melanosis in an adult patient with anepia: case report and review of the literature

陈

Zhao

et al. 2022

Preprint

View full text Add to dashboard Cite

We explore the clinical characteristics of neurocutaneous melanosis (NCM) in adult patients to further understanding of the disease. Methods We present a rare case of an adult patient suffering from neurocutaneous melanosis with anepia and review the Chinese and English literature to analyze the clinical features of adult neurocutaneous melanosis patients in China. Results: From Jan 1995 to April 2022, there were thirty-four adult NCM patients, aged 19 to 59 years, average 26.9 years old, twenty-three males (67.6%), eleven females (32.4%), two cases of diffuse melanocytosis (5.8%), thirty-one cases of malignant melanoma (91.1%)) and one case of mixed nevus (3.1%). Twenty-nine cases showed satellite nevi (73.5%), and five cases were unknown (26.5%). Thirty-three cases had obvious intracranial lesions(97.0%), and one case had no intracranial lesions (3.0%). Nine cases of intracranial hypertension (26.4%), ten cases of epilepsy(29.4%), one case of hydrocephalus (2.9%), one case of cerebral hemorrhage (2.9%), one case combine Dandy-Walker deformity (2.9%). Conclusion: Neurocutaneous melanosis (NCM) is a very rare disease, especially in adults. Neurosurgical intervention can help improve diagnosis of this disease. Further evidence is needed to establish the negative associations of NCM incidence with oestrogen levels.

show abstract

“…8,9 Melanocytic deposits, which may be benign or malignant, are also found within the CNS, and melanocytic infiltration of brain parenchyma, with or without melanocytic pigmentation of the leptomeninges, may be present. 1,6,9,10 Although the diagnosis of NCM confers a small risk of developing melanoma, the greatest source of morbidity and mortality results from the benign proliferation of melanocytes within the closed space of the brain or CNS, and death occurs in many patients within 3 years of onset of neurological symptoms. 8 The neurological manifestations of NCM may present in infancy or appear later in life and are linked to poor outcomes, with symptoms including hydrocephalus, seizures, intracranial hypertension, cranial nerve palsies, and motor and sensory deficits.…”

mentioning

confidence: 99%

“…8 The neurological manifestations of NCM may present in infancy or appear later in life and are linked to poor outcomes, with symptoms including hydrocephalus, seizures, intracranial hypertension, cranial nerve palsies, and motor and sensory deficits. 1,8,11 Elevated intracranial pressure (ICP) may be observed within the first 2 years of life, with accompanying symptoms of lethargy, recurrent vomiting, increased head circumference, and bulging anterior fontanelle. 4,12 Mortality typically results from complications due to elevated ICP.…”

mentioning

confidence: 99%

“…4,13 CNS malformations include syringomyelia, meningocele, occult spinal dysraphism, and CNS lipomatosis, although infrequently reported in the literature. 1 To further elucidate patient outcomes and the spectrum of intracranial and intraspinal abnormalities present in this rare neurocutaneous disorder, we conducted a systematic review. Approaches toward the diagnosis, treatment, and neurosurgical care of NCM patients are explored.…”

mentioning

confidence: 99%

See 1 more Smart Citation

Neurosurgical management of patients with neurocutaneous melanosis: a systematic review

Rahman

Majmundar

Ghani

et al. 2022

Neurosurgical Focus

View full text Add to dashboard Cite

OBJECTIVE Neurocutaneous melanocytosis (NCM), also referred to as neurocutaneous melanosis, is a rare neurocutaneous disorder characterized by excess melanocytic proliferation in the skin, leptomeninges, and cranial parenchyma. NCM most often presents in pediatric patients within the first 2 years of life and is associated with high mortality due to proliferation of melanocytes in the brain. Prognosis is poor, as patients typically die within 3 years of symptom onset. Due to the rarity of NCM, there are no specific guidelines for management. The aims of this systematic review were to investigate approaches toward diagnosis and examine modern neurosurgical management of NCM. METHODS A systematic review was performed using the PubMed database between April and December 2021 to identify relevant articles using PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Search criteria were created and checked independently among the authors. Inclusion criteria specified unique studies and case reports of NCM patients in which relevant neurosurgical management was considered and/or applied. Exclusion criteria included studies that did not report associated neurological diagnoses and neuroimaging findings, clinical reports without novel observations, and those unavailable in the English language. All articles that met the study inclusion criteria were included and analyzed. RESULTS A total of 26 extracted articles met inclusion criteria and were used for quantitative analysis, yielding a cumulative of 74 patients with NCM. These included 21 case reports, 1 case series, 2 retrospective cohort studies, 1 prospective cohort study, and 1 review. The mean patient age was 16.66 years (range 0.25–67 years), and most were male (76%). Seizures were the most frequently reported symptom (55%, 41/74 cases). Neurological diagnoses associated with NCM included epilepsy (45%, 33/74 cases), hydrocephalus (24%, 18/74 cases), Dandy-Walker malformation (24%, 18/74 cases), and primary CNS melanocytic tumors (23%, 17/74 cases). The most common surgical technique was CSF shunting (43%, 24/56 operations), with tethered cord release (4%, 2/56 operations) being the least frequently performed. CONCLUSIONS Current management of NCM includes CSF shunting to reduce intracranial pressure, surgery, chemotherapy, radiotherapy, immunotherapy, and palliative care. Neurosurgical intervention can aid in the diagnosis of NCM through tissue biopsy and resection of lesions with surgical decompression. Further evidence is required to establish the clinical outcomes of this rare entity and to describe the diverse spectrum of intracranial and intraspinal abnormalities present.

show abstract

Neurocutaneous melanocytosis (melanosis)

Cited by 33 publications

References 179 publications

Neurocutaneous melanosis with hydrocephalus and dandy-walker variant

Neurocutaneous melanosis with hydrocephalus and dandy-walker variant

Neurocutaneous melanosis in an adult patient with anepia: case report and review of the literature

Neurosurgical management of patients with neurocutaneous melanosis: a systematic review

Contact Info

Product

Resources

About