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Primary intracranial melanoma is a very rare brain tumor, especially when accompanied by benign intramedullary melanocytoma. Distinguishing between a primary central nervous system (CNS) lesion and metastatic melanoma is extremely difficult, especially when the primary cutaneous lesion is not visible. Here we report a 13-year-old girl admitted to the Neurosurgery Department of the Institute of Polish Mother's Health Centre in Lodz due to upper limb paresis. An intramedullary tumor of the cervical C3–C4 and an accompanying syringomyelic cavity C1–C7 were revealed. The child underwent partial removal of the tumor due to the risk of damage to spinal cord motor centers. The removed part of the tumor was diagnosed as melanocytoma. Eight months later, a neurological examination revealed paresis of the right sixth cranial nerve, accompanied by bilateral optic disc edema. Diagnostic imaging revealed a brain tumor. The girl underwent resection of both detected the tumors and an additional satellite lesion revealed during the surgery. The removed tumors were diagnosed as malignant melanomas in pathomorphological examination. Molecular analysis revealed NRASQ61K mutation in both the intracranial and the intramedullary tumor. It should be noted that in cases where available evidence is inconclusive, an integrative diagnostic process is essential to reach a definitive diagnosis. [ABSTRACT FROM AUTHOR]

Primary intracranial melanoma is a very rare brain tumor, especially when accompanied by benign intramedullary melanocytoma. Distinguishing between a primary central nervous system (CNS) lesion and metastatic melanoma is extremely difficult, especially when the primary cutaneous lesion is not visible. Here we report a 13-year-old girl admitted to the Neurosurgery Department of the Institute of Polish Mother’s Health Centre in Lodz due to upper limb paresis. An intramedullary tumor of the cervical C3–C4 and an accompanying syringomyelic cavity C1–C7 were revealed. The child underwent partial removal of the tumor due to the risk of damage to spinal cord motor centers. The removed part of the tumor was diagnosed as melanocytoma. Eight months later, a neurological examination revealed paresis of the right sixth cranial nerve, accompanied by bilateral optic disc edema. Diagnostic imaging revealed a brain tumor. The girl underwent resection of both detected the tumors and an additional satellite lesion revealed during the surgery. The removed tumors were diagnosed as malignant melanomas in pathomorphological examination. Molecular analysis revealed NRASQ61K mutation in both the intracranial and the intramedullary tumor. It should be noted that in cases where available evidence is inconclusive, an integrative diagnostic process is essential to reach a definitive diagnosis.

Congenital melanocytic nevi (CMN) carry an increased risk of melanoma and may be disfiguring, and consensus regarding treatment recommendations is lacking. While clinical monitoring is the standard of care, many caregivers are interested in its removal to prevent psychosocial burden or to decrease risk. Although melanoma can occur regardless of CMN removal, there are a variety of treatments that may offer improved cosmesis or local symptom control, including surgical excision, laser therapy, and other superficially destructive techniques. Regardless of the selected management, these patients are monitored for ongoing melanoma risk. An extensive discussion with families regarding the risks and benefits of observation versus active intervention is essential. To facilitate these discussions, we herein summarize current CMN management strategies and considerations. [ABSTRACT FROM AUTHOR]

Introduction: Intradural spinal lipomas are very rare and constitute less than 1% of all spinal tumors. Such tumors are usually associated with spinal dysraphism and occur mostly in the lumbosacral or cervical region. Intradural spinal lipomas tends to be intramedullary or subpial. Meningeal melanocytoma is further rarer cases that comprise less than 0.1% of cases. These usually occur in the fifth or fifth decade and chances of malignant transformation are high. Case report: Here, we report an extremely rare case (first to the best of our knowledge) of a 9 years female child who presented to us with rapid progressing paraparesis. She was operated and found to have an intradural purely extramedullary spinal lipoma without spinal dysraphism. Moreover, she had melanin pigment deposits all over her meninges which is further rare. On presentation, the patient was bedridden but after surgery, the patient improved and could walk without support. Conclusions: To the best of our knowledge, this is the first case of spinal cord lipoma in dorsal location along with melanin pigments in the meninges. We discuss the pathogenesis, presentation and management of intradural extramedullary spinal lipomas. [ABSTRACT FROM AUTHOR]

Congenital melanocytic nevi (CMN) carry an increased risk of melanoma and may be disfiguring, and consensus regarding treatment recommendations is lacking. While clinical monitoring is the standard of care, many caregivers are interested in its removal to prevent psychosocial burden or to decrease risk. Although melanoma can occur regardless of CMN removal, there are a variety of treatments that may offer improved cosmesis or local symptom control, including surgical excision, laser therapy, and other superficially destructive techniques. Regardless of the selected management, these patients are monitored for ongoing melanoma risk. An extensive discussion with families regarding the risks and benefits of observation versus active intervention is essential. To facilitate these discussions, we herein summarize current CMN management strategies and considerations.

Background: High-risk congenital melanocytic nevi (CMN) are associated with abnormalities of the central nervous system (CNS), prompting magnetic resonance imaging (MRI) screening guidelines.Objective: Describe MRI brain and spine abnormalities in children with CMN and report trends between nevus features, MRI findings, and neurologic outcomes.Methods: Retrospective review of individuals aged ≤18 years with an MRI of the brain and/or spine and at least 1 dermatologist-diagnosed CMN.Results: Three hundred fifty-two patients were identified. Forty-six children had CMN that prompted an MRI of the brain and/or spine (50% male, average age at first image, 354.8 days). In these children, 8 (17%) had melanin detected in the CNS, of whom all had >4 CMN. One developed brain melanoma (fatal). In patients without CNS melanin, 4 had concerning imaging. Concerning MRI patients had more neurodevelopmental problems, seizures, neurosurgery, and death than individuals with unremarkable imaging. Three hundred six patients received MRIs for other reasons; none detected melanin. No children with only multiple small CMN (n = 15) had concerning imaging.Limitations: Lack of a control group, cohort size, and retrospective methods.Conclusion: MRI of the brain and spine is useful for detecting intervenable abnormalities in high-risk children. Healthy infants with few small CMN may not require screening MRI. [ABSTRACT FROM AUTHOR]

Congenital melanocytic nevus syndrome describes congenital melanocytic nevi (CMN) associated with extracutaneous abnormalities, most often involving the nervous system. CMN syndrome is usually caused by postzygotic mutations in the neuroblastoma RAS viral oncogene homolog (NRAS) gene. CMN, collections of melanocytes within the skin, are typically multiple in number and serve as a visible, cutaneous marker of this syndrome. CMN can be classified by predicted maximum diameter in adulthood as well as other clinical features such as anatomic location, color heterogeneity, hypertrichosis, number of satellite nevi, nodules, and surface rugosity. Common neurological abnormalities in CMN syndrome include melanin with the central nervous system (CNS), seizures, and neurodevelopmental delays. Early screening magnetic resonance imaging (MRI) of the CNS during the initial months of life is crucial for predicting the risk of neurodevelopmental abnormalities, seizures, and the need for neurosurgical intervention. Children with a normal screening CNS MRI or intraparenchymal melanosis alone tend to have favorable outcomes. Prognosis otherwise varies widely given the breadth of neurological abnormalities that can occur in CMN syndrome, however if primary melanoma develops in the skin or CNS then outcomes are typically poor. [ABSTRACT FROM AUTHOR]

Neurocutaneous melanosis is characterized by melanin-producing cells within the skin, leptomeninges, or brain parenchyma. It is a severe manifestation of congenital melanocytic nevus syndrome and can develop malignant melanomas. The disorder is commonly present in pediatric patients within the first two years of life and has a poor prognosis. We report a case of an 8-year-old male with epilepsy and cognitive deficit presenting spinal neurocutaneous melanosis., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Congenital melanocytic naevi are hamartomas of the neuroectoderm caused by genetic mosaicism. Congenital melanocytic naevi are seen in 1‐6% of all live births and commonly classified based on the projected size in adults. Congenital melanocytic naevi appear in different colours, shapes, and sizes, and occasionally present with complications. In this review, we sought to evaluate congenital melanocytic naevi, their clinical, dermatoscopic, and reflectance confocal microscopic features, behavioural pattern over time, new trends in classification, underlying genetic factors and their influence on clinical manifestations and management, associated risks, complications, magnetic resonance imaging findings and their management in the light of recent literature. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Introduction: Like uveal melanomas, primary leptomeningeal melanocytic neoplasms (LMNs) frequently carry GNAQ and GNA11 mutations. However, it is currently unknown whether these LMNs harbor mutations in BAP1, SF3B1 and/or EIF1AX like uveal melanomas as well. In this study, we used Sanger sequencing for the detection of mutations in SF3B1 (hotspots in exon 14 and 15) and EIF1AX (exon 1 and 2 and flanking intronic regions) in a series of 24 primary LMNs. Additionally, BAP1 immunohistochemistry was used as a surrogate marker for the detection of inactivating mutations in the BAP1 gene. Results: Mutations in either SF3B1 or EIF1AX were identified in 8 out of 24 primary LMNs (33 %). The presence of these mutations was mutually exclusive and occurred in primary LMNs of different malignancy grades (melanocytomas, intermediate-grade melanocytic tumors, melanomas). Complete absence of nuclear BAP1 staining as is typically seen in BAP1-mutated tumors was not observed. Conclusions: Our finding that an SF3B1 or EIF1AX mutation is present in a substantial subset of primary LMNs underscores that these tumors genetically resemble uveal melanoma and are different from cutaneous melanoma at the genetic level. This information may not only aid in the differential diagnosis of primary versus metastatic melanocytic tumor in/around the central nervous system, but also in the identification of more promising therapeutic approaches targeting the molecular pathways involved in the oncogenesis of LMNs. As none of the primary LMNs in our series showed complete loss of nuclear BAP1 protein, it is unlikely that BAP1 mutations are frequent in these tumors but the role of this gene warrants further investigation. [ABSTRACT FROM AUTHOR]

We report a case of a newborn girl with neurocutaneous melanocytosis, hemimegalencephaly and a large ovarian cyst. She also had melanocyte deposition in the filum terminale. The ultrasound and the magnetic resonance imaging findings are discussed. [ABSTRACT FROM AUTHOR]

NRAS and BRAF mutations occur in congenital melanocytic nevi (CMN), but results are contradictory. Sixty-six prospectively collected CMN patients were analyzed for NRAS Q61 mutations using Sanger sequencing. Negative cases were evaluated for BRAF V600E mutation. NRAS Q61 mutations affected 51 patients (77.3%), and BRAF V600E was found in 5 (7.6%). NRAS Q61 mutation affected 29 (80.6%) of 36 giant, 16 (80.0%) of 20 large, and 5 (62.5%) of 8 medium-size CMN; BRAF mutation affected 1 (5%) of 20 large and 4 (11.4%) of 36 giant CMN. Compared to NRAS, BRAF-mutated nevi show scattered/extensive dermal and subcutaneous nodules (100% BRAF+ vs 34.8% NRAS+) (P = 0.002). Neurocutaneous melanocytosis (NCM) affected 16 (24.2%) of 66 patients, with NRAS Q61 mutation in 12 (75.0%), and BRAF V600E in 2 (12.5%), P = 0.009. Two patients were negative for both mutations (12.5%). In conclusion, although NRAS Q61 mutations predominate, BRAF V600E mutation also affects patients with large/giant CMN (L/GCMN), and with NCM, a novel finding. BRAF V600E is also associated with increased dermal/subcutaneous nodules. These findings open the possibility of BRAF-targeted therapy in some L/GCMN and NCM cases. [ABSTRACT FROM AUTHOR]

Proliferative nodules ( PN) are benign lesions that arise in large congenital melanocytic naevi ( LCMN). Clinically and histologically they can be difficult to differentiate from malignancies, which are also associated with LCMN. The PN in this case consisted of undifferentiated spindle cells and exhibited unusual histological features including negative stains for melanocytic markers ( S100, HMB45 and MelA), negative stain for c-Kit, high mitotic index and unusual morphology of the lesional cells. As a result, a firm histological classification could not be made, which posed a challenge for the clinical management. [ABSTRACT FROM AUTHOR]

Background: The diameter of congenital melanocytic nevi (CMN) has served as the lone criterion for determining risks of adverse outcomes such as melanoma. A standardized description of additional morphologic features is needed. Objective: We sought to develop a consensus-based standardized categorization of cutaneous features of CMN and to test agreement among experts on the proposed scheme. Methods: An interdisciplinary group of experts in the field of CMN was surveyed using a detailed questionnaire. Applicability of the expert consensus-based scheme was tested for interobserver agreement. Results: The principal variable of the consensus-based categorization is CMN size, based on maximal diameter the CMN is projected to attain by adulthood. CMN size categories include: small (<1.5 cm); medium (M1: 1.5-10 cm, M2: >10-20 cm); large (L1: >20-30 cm, L2: >30-40 cm); and giant (G1: >40-60 cm, G2: >60 cm). In addition, number of satellite nevi in the first year of life is categorized into none, 1 to 20, more than 20 to 50, and more than 50 satellites. Additional descriptors of CMN include anatomic localization, color heterogeneity, surface rugousity and presence of hypertrichosis (described as none, moderate, marked), and presence of dermal or subcutaneous nodules (none, scattered, extensive). Assessment of consistency among 3 experts showed moderate to excellent interobserver agreement for categorization of the clinical descriptors (kappa values 0.54-0.93). Limitations: Applicability of the proposed scheme was tested in a virtual setting and only among experts. Conclusion: The proposed categorization scheme for CMN was agreed upon by experts and showed good interobserver agreement. Such standardized reporting of patients with CMN facilitates the development of an international clinical database for the study of large and giant CMN. [ABSTRACT FROM AUTHOR]

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.

ABSTRACT Large congenital melanocytic naevi (LCMN) are associated with an increased risk of malignancy and neurocutaneous melanocytosis (NCM). This Australian study aims to assess both the clinical characteristics of LCMN and the risks associated with it. The authors reviewed medical records of the Sydney Children's Hospital Dermatology Outpatient Clinic for the past 10 years and identified 31 eligible patients. A total of 14 boys and 17 girls with a median age of 0.13 years were assessed; 18 lesions were on the trunk, five were on the head, five were on the lower limbs and three were on the upper limbs. In all 20 patients had satellite naevi (the median number of the satellite naevi was 7.5). The patients were followed up for a median duration of 12 months. Central nervous system magnetic resonance imaging was performed on 19 patients and two (6.5%) were found to have NCM. Biopsies were performed on five patients; one patient (3.2%) was found to have benign proliferative nodules of undifferentiated spindle cells but no patient (0%) was found to have a malignancy. The clinical characteristics for the two patients with NCM and the patient with benign proliferative nodules suggest that the risk of both NCM and benign proliferative nodules may be greater with an increased number of satellite naevi and with the LCMN being larger in size. [ABSTRACT FROM AUTHOR]

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Congenital melanocytic naevi, consisting of clusters of naevo-melanocytes, develop in utero. Although many congenital naevi are visible at birth, some may not become evident until later in life. The timing of naevo-melanocyte proliferation, senescence and melanogenesis may all contribute towards determining when a naevus will become clinically manifest on the skin. Besides the fact that congenital melanocytic naevi may be aesthetically displeasing, resulting in a multitude of psychosocial issues, they also increase the risk for developing cutaneous melanoma, leptomeningeal melanoma, neurocutaneous melanocytosis, malformations of the brain and, rarely, other tumours such as rhabdomyosarcoma and liposarcoma. Whereas the risk of developing malignancy in association with congenital naevi is dependent, to some extent, on the size of the naevus, the risk of developing neurocutaneous melanocytosis correlates best with the number of satellite naevi. Management of patients with congenital melanocytic naevi requires individualization, taking into account the naevus size and location, and the risk of developing cutaneous melanoma or neurocutaneous melanocytosis. When contemplating treatment options, it is important to set realistic expectations and to address the possible aesthetic and functional outcomes, while at the same time addressing the risk for developing cutaneous and/or extracutaneous melanoma. [ABSTRACT FROM AUTHOR]

Large congenital melanocytic naevi (LCMN), which developin uteroand are present in approximately one in 20 000 newborns, are associated with markedly increased risks of cutaneous melanoma, leptomeningeal melanoma and neurocutaneous melanocytosis (NCM).This study examined clinical characteristics associated with melanoma and NCM among patients with LCMN, and estimated the risk of developing melanoma and NCM in these patients.Two hundred and five LCMN patients enrolled in the New York University registry were studied. One hundred and seventy of these patients were followed prospectively. The remaining 35 patients had either melanoma at the time of entry into the registry (n = 6), or had insufficient follow-up information (n = 29). The outcome measures were the occurrence of melanoma and NCM. The associations between these outcomes and the clinical covariates (anatomical location of the LCMN, size of the LCMN, number of satellite lesions, family history of melanoma, patient sex and treatment) were assessed.Four of 170 (2·3%) prospectively followed patients developed melanomas, representing a standardized morbidity ratio of 324. Among the entire cohort (n = 205), there were associations between increasing numbers of satellite naevi and the occurrence of melanoma (P = 0·04), and the presence of NCM (P = 0·06). Compared with patients who did not develop these diseases, median LCMN diameters were larger among patients who developed melanoma (49 vs. 39 cm) and NCM (55 vs. 46 cm).In LCMN patients, increasing numbers of satellite lesions and larger LCMN diameters are associated with melanoma and NCM. [ABSTRACT FROM AUTHOR]