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      Un caso de melanosis neurocutánea: el lado oscuro del nevus melanocítico congénito gigante Translated title: A case of neurocutaneous melanosis: the dark side of the giant congenital melanocytic nevus

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          Abstract

          RESUMEN La melanosis neurocutánea es una facomatosis, no hereditaria, caracterizada por la proliferación de melanocitos y de depósitos de melanina en el sistema nervioso central, asociada a un nevus melanocítico congénito gigante o a múltiples nevus melanocíticos satélites. CASO CLÍNICO. Una mujer joven con nevus melanocítico congénito gigante y satelitosis, presentó hipertensión intracraneana asociada a hidrocefalia comunicante. Se le practicó derivación del líquido cefalorraquídeo con mejoría parcial, luego presentó convulsiones y afectación medular cervical que la llevó a la ventilación mecánica prolongada y finalmente a la muerte. La resonancia magnética evidenció lesiones en las leptomeninges. CONCLUSIONES. La melanosis neurocutánea debe considerarse en pacientes adultos con nevus melanocítico congénito que presenten manifestaciones clínicas neurológicas.

          Translated abstract

          SUMMARY Neurocutaneous melanosis is a non-hereditary phakomatosis, characterized by the proliferation of melanocytes and melanin deposits in the central nervous system associated with a giant congenital melanocytic nevus or multiple melanocytic nevi satellites. CLINICAL CASE. A young woman with congenital giant melanocytic nevus and satelitosis, presented with intracraneal hypertension associated with communicating hydrocephalus. She was treated with cerebrospinal fluid shunt with partial improvement; but she worsened, presenting seizures and later cervical spinal cord involvement that led to prolonged mechanical ventilation and eventually death. MRI showed lesions in leptomeninges. CONCLUSIONS. Neurocutaneous melanosis should be considered in adult patients with congenital melanocytic nevus and clinical neurological manifestations.

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          Most cited references15

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          Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS

          Congenital melanocytic nevi (CMN) can be associated with neurological abnormalities and an increased risk of melanoma. Mutations in NRAS, BRAF, and Tp53 have been described in individual CMN samples; however, their role in the pathogenesis of multiple CMN within the same subject and development of associated features has not been clear. We hypothesized that a single postzygotic mutation in NRAS could be responsible for multiple CMN in the same individual, as well as for melanocytic and nonmelanocytic central nervous system (CNS) lesions. From 15 patients, 55 samples with multiple CMN were sequenced after site-directed mutagenesis and enzymatic digestion of the wild-type allele. Oncogenic missense mutations in codon 61 of NRAS were found in affected neurological and cutaneous tissues of 12 out of 15 patients, but were absent from unaffected tissues and blood, consistent with NRAS mutation mosaicism. In 10 patients, the mutation was consistently c.181C>A, p.Q61K, and in 2 patients c.182A>G, p.Q61R. All 11 non-melanocytic and melanocytic CNS samples from 5 patients were mutation positive, despite NRAS rarely being reported as mutated in CNS tumors. Loss of heterozygosity was associated with the onset of melanoma in two cases, implying a multistep progression to malignancy. These results suggest that single postzygotic NRAS mutations are responsible for multiple CMN and associated neurological lesions in the majority of cases.
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            Neurocutaneous melanosis: definition and review of the literature.

            Neurocutaneous melanosis is a rare congenital syndrome characterized by the presence of large or multiple congenital melanocytic nevi and benign or malignant pigment cell tumors of the leptomeninges. The syndrome is thought to represent an error in the morphogenesis of the embryonal neuroectoderm. We review 39 reported cases of neurocutaneous melanosis and propose revised criteria for diagnosis. Most patients with neurocutaneous melanosis presented in the first 2 years of life with neurologic manifestations of increased intracranial pressure, mass lesions, or spinal cord compression. Leptomeningeal melanoma was present in 62% of the cases, but even in the absence of melanoma, symptomatic neurocutaneous melanosis had an extremely poor prognosis. Useful diagnostic procedures include cerebrospinal fluid cytology and magnetic resonance imaging with gadolinium contrast. Patients may be aided by palliative measures such as shunt placement to reduce intracranial pressure. Dermatologists in their follow-up of patients with large or multiple congenital melanocytic nevi should be aware of this condition, to aid in prompt diagnosis and because the treatment of cutaneous lesions may be altered in the presence of symptomatic neurocutaneous melanosis.
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              Large congenital melanocytic nevi and the risk for development of malignant melanoma and neurocutaneous melanocytosis.

              To determine the risk for developing malignant melanoma and neurocutaneous melanocytosis (NCM) in patients with large congenital melanocytic nevi. Follow-up data suitable for calculations were available on 160 patients in the New York University Registry of Large Congenital Melanocytic Nevi who had been free of known melanomas or NCM when entered into the Registry. The cumulative 5-year life-table risks for developing melanoma and NCM were calculated. The relative risk for developing melanoma, using a control general population reference group, was determined. The 160 patients (median age at entry: 14 months) were followed prospectively for an average of 5.5 years. Three extracutaneous melanomas developed: 2 were in the central nervous system (CNS) and 1 was retroperitoneal. The 5-year cumulative life-table risk for developing melanoma was 2.3% (95% confidence interval [CI]:.8-6.6) and the relative risk was 101 (95% CI: 21-296). No melanoma occurred within a large congenital melanocytic nevus. Four patients developed manifest NCM, 2 with CNS melanomas. The 5-year cumulative life-table risk for developing NCM was 2.5% (95% CI:.8-7.2). Ten patients were excluded from the calculations because of preexisting disease on entry into the Registry: 5 with manifest NCM and 5 with melanomas (3 in large congenital melanocytic nevi, 1 in nonnevus skin, and 1 unknown primary). Patients with large congenital melanocytic nevi are at increased risk for developing melanomas. There is also a significant increased risk for developing NCM. The high incidence of CNS involvement may influence decisions concerning treatment of the large congenital melanocytic nevi.
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                Author and article information

                Journal
                anco
                Acta Neurológica Colombiana
                Acta Neurol Colomb.
                Asociación Colombiana de Neurología (Bogotá, Distrito Capital, Colombia )
                0120-8748
                2422-4022
                March 2020
                : 36
                : 1
                : 34-38
                Affiliations
                [1] Bogotá D.C orgnameFundación Universitaria de Ciencias de la Salud
                [4] Cúcuta Norte del Santander orgnameUniversidad de Pamplona Colombia
                [2] Cúcuta Norte del Santander orgnameUniversidad de Pamplona Colombia
                [3] Cúcuta Norte de Santander orgnameHospital Universitario Erasmo Meoz
                Article
                S0120-87482020000100034 S0120-8748(20)03600100034
                10.22379/24224022275
                23e004e4-5e72-4aa2-8aa7-44a97f078930

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

                History
                : 18 February 2020
                : 08 December 2018
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 16, Pages: 5
                Product

                SciELO Colombia

                Categories
                Caso clínico

                Hipertensión intracraneal,Nevo pigmentado (DeCS),Hydrocephalus,Nevus,Hidrocefalia,Melanosis (MeSH),Epilepsia,Melanosis,Epilepsy,Intracranial hypertension,Hyperthyroidism,Hipertiroidismo

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