Melanosis neurocutánea: reporte de un caso y revisión de la literatura / Neurocutaneous melanosis. Case report and literature review / Melanose neurocutânea: relato de caso e revisão da literatura

RESUMEN Introducción: la melanosis neurocutánea es un trastorno congénito no hereditario que se caracteriza por la asociación de nevus pigmentados múltiples o de gran tamaño y una excesiva proliferación de melanocitos en el sistema nervioso central. La incidencia es similar en ambos sexos, y se observa historia familiar de melanoma en un único caso. Presentación del caso: se trata de un neonato masculino que nace en Hospital General de Luanda en Angola, con mancha melánica gigante que se extiende desde el cuello, cara, tórax, abdomen, espalda y miembros superiores, requiere una vigilancia de las lesiones dérmicas y un control de las crisis convulsivas. Discusión: se realizaron revisiones de la literatura médica disponible sobre el tema, consultando el programa de genética Oxford, y se tomaron fotos de las características clínicas sobresalientes. Por lo general los síntomas neurológicos son de temprana aparición en la etapa neonatal o de lactante con presencia de convulsiones de difícil control, al crear un pronóstico reservado. Conclusiones: se considera importante el seguimiento del neurodesarrollo de forma multidisciplinario para intervención oportuna si fuera necesario.

ABSTRACT Introduction: neurocutaneous melanosis is a non-hereditary congenital disorder characterized by the association of multiple or large pigmented nevi and an excessive proliferation of melanocytes in the central nervous system. The incidence is similar in both sexes, and a family history of melanoma is observed in a single case. Case presentation: this is a male neonate born at the General Hospital of Luanda in Angola, with a giant melanic spot that extends from the neck, face, chest, abdomen, back and upper limbs, requires surveillance of dermal lesions and control of seizures. Discussion: reviews of the available medical literature on the subject were conducted, consulting the Oxford genetics program, and photos of outstanding clinical features were taken. Usually the neurological symptoms are of early onset in the neonatal or infant stage with the presence of seizures that are difficult to control, creating a reserved prognosis. Conclusions: it is considered important to monitor neurodevelopment in a multidisciplinary way for timely intervention if necessary.

RESUMO Introdução: a melanose neurocutânea é uma doença congênita não hereditária caracterizada pela associação de nevi pigmentado múltiplo ou grande e uma proliferação excessiva de melanócitos no sistema nervoso central. A incidência é semelhante em ambos os sexos, e um histórico familiar de melanoma é observado em um único caso. Apresentação do caso: trata-se de um recém-nascido no Hospital Geral de Luanda, em Angola, com um ponto melanico gigante que se estende do pescoço, rosto, tórax, abdômen, costas e membros superiores, requer vigilância de lesões dérmicas e controle de convulsões. Discussão: foram realizadas revisões da literatura médica disponível sobre o tema, consultando o programa de genética de Oxford e fotos de características clínicas de destaque. Geralmente os sintomas neurológicos são de início precoce no estágio neonatal ou infantil com a presença de convulsões de difícil controle, criando um prognóstico reservado. Conclusões: é considerado importante monitorar o neurodesenvolvimento de forma multidisciplinar para intervenção oportuna, se necessário.

Melanoma intracraneal primario en un paciente adulto con melanosis neurocut nea / Primary intracranial melanoma in an adult patient with neurocutaneous melanosis

La melanosis neurocutánea es un desorden congénito de escasa frecuencia, caracterizado por nevos cutáneoscongénitos y compromiso del sistema nervioso central. Ocurre más comúnmente durante la infancia y rara vez en laedad adulta. Se presenta el caso de un hombre de 30 años de edad con melanosis neurocutánea que luego desarrolla melanoma intracraneal. En conjunción con los hallazgos del examen físico de la piel, la resonancia magnéticanuclear juega un rol crucial en el diagnóstico de esta entidad clínica.

Neurocutaneous melanosis is a rare congenital disorder characterized by congenital cutaneous nevi and furtherinvolvement of the central nervous system. It occurs most commonly during childhood and rarely in adulthood.An unusual case of a 30-year-old man with neurocutaneous melanosis and subsequent intracranial melanoma, is presented. In conjunction with the skin findings of the physical examination, magnetic resonance imaging plays acrucial role in making the diagnosis of this clinical entity.

Congenital Melanocytic Nevus with Asymptomatic Neurocutaneous Melanosis / 대한피부과학회지

Congenital melanocytic nevi (CMN) are benign pigmented lesions that are defined as a tissue malformation of the neuroectoderm. Giant melanocytic nevi with multifocal involvement show significantly greater risk of developing malignant melanomas and neurocutaneous melanocytosis, particularly those in a posterior axial location. Neurocutaneous melanosis is a rare, congenital, non-inherited disorder characterized by the presence of large, multiple congenital melanocytic nevi with proliferation of melanocytes in the central nervous system. Asymptomatic neurocutaneous melanosis can be detectable only by MRI. The patients who have clinical manifestations have an extremely poor prognosis. We present a patient with giant congenital melanocytic nevi involving a major portion of the back with multiple satellite nevi scattered over the whole body associated with asymptomatic neurocutaneous melanosis. We emphasize the importance of imaging study for detection of early neurological symptoms or melanomas. To our knowledge, this is the first case of giant congenital melanocytic nevi associated with asymptomatic neurocutaneous melanosis in Korean dermatologic literatures.

Multiple Congenital Melanocytic Nevi in Association with Dandy-Walker Malformation / 대한피부과학회지

Congenital melanocytic nevi (CMN) are benign pigmented lesions found in about 1% of all newborns or shortly after birth. Giant melanocytic nevi, with multifocal involvement, show significantly greater risk of developing malignant melanomas and neurocutaneous melanosis (NCM), particularly in a posterior axial location. NCM is a rare congenital disease characterized by multiple (> or =3) small nevi, or at least one large congenital melanocytic nevus in combination with cerebral and/or leptomeningeal melanin deposits or melanoma. Dandy-Walker malformation (DWM) consists of a cystic dilatation of the fourth ventricle, hypoplasia or aplasia of the cerebellar vermis, and enlarged posterior fossa with or without hydrocephalus. The association of DWM and NCM has rarely been reported in the literature. A 3 month-old girl presented with increased head circumference and multiple various sized black plaques on her whole body. She underwent a ventriculoperitoneal shunt operation when she was 2 months-old. A skin biopsy was taken from the largest and darkest plaque of the trunk and showed hyperpigmentation of the basal layer of the epidermis. The dermis contained nevus cells in nests and sheets throughout the dermis, but no cellular atypia was noted. Magnetic resonance image (MRI) of the brain revealed severe hydrocephalus with hypoplasia of cerebellar vermis and agenesis of cerebellar tonsil which are consistent with Dandy-Walker malformation. We recommended a spinal MRI for check up the presence of leptomeningeal melanosis, but could not evaluate the result because of her being adapted. Herein, we present a rare case of multiple congenital melanocytic nevi in association with DWM in a neonate.

Melanosis neurocutánea: Comunicación de un caso y revisión de la bibliografía / Neurocutaneous melanosis: Case report and literature review

La melanosis neurocutánea se caracteriza por la proliferación de melanocitos y depósitos de melanina en el sistema nervioso central asociada con nevos melanocíticos gigantes. Los pacientes con nevos melanocíticos congénitos gigantes localizados en el eje axial posterior (dorso, nuca o cabeza) o múltiples nevos melanocíticos congénitos pequeños son los que tienen mayor riesgo de presentarla. En la mayoría de los pacientes la melanosis neurocutánea es asintomática y se detecta como un hallazgo en los estudios por imágenes; sin embargo, los casos que desarrollan síntomas tienen mal pronóstico y el óbito se produce antes de los 3 años de iniciados. Se presenta una paciente con un nevo melanocítico congénito gigante y múltiples satelitosis, con compromiso asintomático del sistema nervioso central. Se destaca la importancia del seguimiento multidisciplinario de estos niños con el fn de detectar, en forma precoz, cualquier signo o síntoma neurológico que pudiesen desarrollar, como así también la presencia de melanoma.

Neurocutaneous melanosis is characterized by an increased number of melanocytes and melanin deposit in central nervous system associated with giant melanocytic congenital nevi. Patients with multiple satellite nevi or giant cutaneous melanocytic nevus in a midline location (overlying the back, neck or head) have more likelihood of having neurocutaneous melanosis. In most patients, the neurocutaneous melanosis is asymptomatic, only detectable by MRI; nevertheless, those patients with clinical manifestations have a poor prognosis, dying within 3 years of initial neurological manifestations. We present a patient with giant melanocytic congenital nevi and multiple satellite nevi associated with asymptomatic neurocutaneous melanosis. We emphazise the importance of multidisciplinary evaluation in order to detect early neurological symptoms and/or melanoma.

Dandy-Walker Malformation Associated with Neurocutaneous Melanosis

Neurocutaneous melanosis associated with Dandy-Walker malformation is a rare dysmorphogenesis that is associated with single or multiple giant pigmented cutaneous nevi and diffuse involvement of the central nervous system. In this article, we present a 2-month-old patient with neurocutaneous melanosis associated with Dandy-Walker malformation. In addition, we reviewed the literature and discussed the pathogenesis based on the preferred hypotheses.

Multiple Congenital Melanocytic Nevi Associated with Developmental Delay / 대한피부과학회지

Multiple congenital melanocytic nevi (MCMN), defined as the distribution of more than three small- or medium- sized congenital melanocytic nevi (CMN) on the body without a giant CMN, is a rare disease comprising about 4% of patients with CMN. Because MCMN accompanies neurodevelopmental delay, including seizures in 25% of patients as well as the risk of malignant melanoma, it must be carefully followed-up. We report a case of MCMN with developmental delay in a 19-month-old Korean boy. He had a history of febrile seizure when he was 18 months old. He showed a speech delay after the 1-year-follow up, even though there was no evidence of neurocutaneous melanosis (NCM) on brain magnetic resonance imaging (MRI) at the first visit. As MRI has a low sensitivity for detecting NCM in patients with MCMN older than 4-months, close neurodevelopmental assessments should be considered to provide a chance for early rehabilitation.

Melanosis neurocutánea con hidrocefalia obstructiva: A propósito de un caso / Neurocutaneous Melanosis with Obstructive Hydrocephaly: A Case Report

Antecedentes. Esta rara hamartomatosis melanocítica de la piel y leptomeninges fue descrita por Vichow en 1859 y nombrada como Melanosis Neurocutanea por Von Bogaert en 1948. Puede reconocerse clínicamente por la presencia en la piel de nevus pigmentados de color oscuro, gruesos y pilosos, repartidos en forma "de Baño de asiento" (hipogastrio, nalgas y parte superior de los muslos) con manifestaciones neurológicas expresadas por hidrocefalia, convulsiones y retraso mental. Existe elevado riesgo de malignización de los nevus. La mayoría de los casos son esporádicos, aunque se ha sugerido un patrón de herencia autosómico dominante con expresividad variable (MIM: 249400). Presentación de caso. Paciente femenina de 6 meses de edad, producto de cuarta gestación, a término, normopeso, padres jóvenes no consanguíneos e historia familiar negativo de defecto congénitos. En la exploración física se comprobaron múltiples nevus pigmentados con al distribución y característica de una Melanosis Neurocutánea; a partir de los dos meses se comprobaron fontanela anterior tensa y rápido crecimiento del perímetro cefálico confirmado por TAC una hidrocefalia obstructiva con marcada dilatación de III y IV ventrículo motivo por el cual le fue realizada por Neurocirugía una derivación de LCR ventrículo-peritoneal. Evoluciona con un marcado retraso en el desarrollo psicomotor. Fallece a la edad de 13 meses. Conclusión. Melanosis Neurocutánea asociada a Hidrocefalia obstructiva por Melanosis difusa del S.N.C.

Background: This rare melonocytic hamartoma of the skin and leptomeninges was first described by Vichow in 1859 and named Neurocutaneous Melanosis by Von Bogaert in 1948. Clinically, it is recognised due to the presence in the skin of dark pigmented, thick and pilose nevi spread like a "seat bath" (hypogastric region, buttocks, the upper part of the thighs), having neurological disorders which are expressed by hydrocephaly, seizures and mental retardation. The risk of malignancy in the nevi is observed. The majority of the cases are sporadic, though a pattern of autosomal dominant heredity with a variable expression (MIM: 249400) is suggested. Case Report: A six-months female patient, born from the fourth pregnancy, in term, normal weight and having young no consanguineous parents and a negative familial history of genetic defects was treated in the neurosurgical consultation. In the physical examination multiple pigmented nevi were observed with a distribution and features which matched with a Neurocutaneous Melanosis; starting from the two months of age, the anterior fontanel was tense and a sudden growing of the cephalic perimeter was observed; confirming with CAT-scan an obstructive hydrocephaly which showed a marked dilatation of the 3rd and 4th ventricles of the brain; this was the reason, to perform by means of a neurosurgery a CSF ventriculoperitoneal shunt. A marked retardation of the psychomotor development was observed, dying at 13 months of age. Conclusion: Neurocutaneous Melanosis associated with an Obstructive Hydrocephaly due to a Diffuse Melanosis of the Central Nervous System (CNS).

Rapidly progressing neurocutaneous melanosis NCM in a 49-year-old woman / 대한내과학회지

Symptomatic neurocutaneous melanosis (NCM) rarely presents in adulthood. NCM is a rare congenital syndrome characterized by large or multiple congenital melanocytic nevi (CMN) combined with benign or malignant melanocytic proliferation in the leptomeninges. This syndrome is believed to be caused by an error in the morphogenesis of embryonal neuroectoderm. The prognosis of symptomatic NCM is extremely poor, even in the absence of malignancy. We describe a 49-year-old patient with a large CMN and numerous satellite nevi who presented with obstructive hydrocephalus followed by a rapid neurological deterioration over 4 months. The rarity of NCM in an adult hindered early diagnosis, and the diagnosis of NCM was made after an extensive work-up for other causes. In patients with acute neurologic symptoms and underlying CMN, the likelihood of NCM with or without leptomeningeal melanoma should be considered.

Rapidly progressing neurocutaneous melanosis NCM in a 49-year-old woman / 대한내과학회지

Symptomatic neurocutaneous melanosis (NCM) rarely presents in adulthood. NCM is a rare congenital syndrome characterized by large or multiple congenital melanocytic nevi (CMN) combined with benign or malignant melanocytic proliferation in the leptomeninges. This syndrome is believed to be caused by an error in the morphogenesis of embryonal neuroectoderm. The prognosis of symptomatic NCM is extremely poor, even in the absence of malignancy. We describe a 49-year-old patient with a large CMN and numerous satellite nevi who presented with obstructive hydrocephalus followed by a rapid neurological deterioration over 4 months. The rarity of NCM in an adult hindered early diagnosis, and the diagnosis of NCM was made after an extensive work-up for other causes. In patients with acute neurologic symptoms and underlying CMN, the likelihood of NCM with or without leptomeningeal melanoma should be considered.

Neurocutaneous Melanosis Presenting as Chronic Partial Epilepsy

BACKGROUND: Neurocutaneous melanosis (NCM) is a rare neurocutaneous syndrome characterized by the presence of multiple congenital melanocytic nevi (CMN) and the proliferation of melanocytes in the central nervous system, usually involving the leptomeninges. Chronic partial epilepsy as a sole manifestation is rare in NCM. CASE REPORT: A 32-year-old man suffering from chronic partial epilepsy presented with multiple CMN on his trunk and scalp. Brain MRI demonstrated a focal lesion in the right amygdala that was consistent with interictal epileptiform discharges in the right temporal region on electroencephalography (EEG). An anterior temporal lobectomy was performed, and the pathology investigation revealed numerous melanophages in the amygdala. The patient was seizure-free after surgery. CONCLUSIONS: We report a patient with NCM presenting as chronic partial epilepsy who was successfully treated by anterior temporal lobectomy.

Nevo piloso gigante congénito / Giant congential hairy nevus

El nevo piloso gigante congénito, es una patología rara con una incidencia de 1 por cada 30.000 a 100.000 individuos. Se presenta con un tamaño mayor a los 20cm. Puede abarcar entre el 15 y el 35del cuerpo ocupando el tronco, un miembro, etc. Se presenta pigmentado, por lo general de forma dispareja, variando entre el castaño claro y el negro intenso, de consistencia semejante al caparazón de la tortuga y cubierto de pelos largos y gruesos. Comunicamos el caso de 3 niños que al nacimiento mostraron un nevo piloso gigante y múltiples nevos de menor tamaño. Esta Patología requiere extirpación quirúrgica agresiva por motivo estético y reducción del riesgo de degeneración hacia melanoma. En todos estos pacientes debe considerarse el diagnóstico de melanosis neurocutánea por lo que es preciso un seguimiento clínico y de neuroimagen, misma que no tiene tratamiento curativo.

A giant congenital hairy nevus is a rare pathology with an incidence of 1 for every 30,000 to 100,000 person. It is characterized for having a size greater than 20 cm, the color varies from brown to black, and surface texture may vary from smooth to warty and covered by long thick hairs. We have clinical cases of three children that when born had gigantic hairy nevus and multiple nevus of smaller size. This pathology requires surgical removal due to esthetics and the decrease risk of getting melanoma. In these patients we should consider a possible diagnosis of neurocutaneous melanosis a reason why image studies should be done.

A case of congenital neurocutaneous melanosis / 소아과

Neurocutaneous melanosis is a rare congenital syndrome characterized by the presence of large or multiple congenital melanocytic nevi and benign pigment cell tumors of the leptomeninges. Neurocutaneous melanosis is thought to represent an error in the morphogenesis of embryonal neuroectoderm. We experienced a neonate who presented with giant, dark colored pigmented nevi covering chest, abdomen, neck and arms, with satellite lesions. Magnetic resonance image showed a nodular hyperintense lesion in the amygdala of the right temporal lobe, and T1-weighted images showed hyperintensities in the adjacent leptomeninges. We report a rare case of neurocutaneous melanosis with a brief review of related literature.

A Case of Neurocutaneous Melanosis in a Child with Congenital Giant Nevi

Patients with giant congenital melanocytic nevi may grow up to have melanotic tumors characterized by central nervous system involvement, termed neucutaneous melanosis. Neurocutaneous melanosis is a rare but a significant congenital syndrome characterized by large or multiple congenital melanocytic nevi and benign or malignant pigment cell tumors of the leptomeninges. The prognosis is extremely poor for symptomatic patients, even in the absence of malignant melanoma. We experienced a case of a neurocutaneous melanosis with congenital giant hairy nevi, who grew up to have progressive leptomeningeal melanomatosis and whose neurologic conditions were rapidly deteriorated to death. So we report the case with a brief review of related literature.

A Case of Neurocutaneous Melanosis in a 46-year Old Man

Neurocutaneous melanosis is a very rare congenital syndrome characterized by the presence of large or multiple congenital melanocytic nevi and benign or malignant melanotic tumors of the central nervous system. We report herein a case of neurocutaneous melanosis with leptomeningeal melanosis and a malignant melanoma of the right temporal lobe in a 46-year old man. The case is exceptional as regards the late onset of symptoms and death. Even without a malignant melanoma, the symptomatic neurocutaneous melanosis has a fatal course. The syndrome is rare but lethal, so the dermatologist should be aware of this syndrome when evaluating the patients with large or numerous congenital melanocytic nevi so as to watch for the usual signs of increased intracranial pressure and to take prompt palliative measures.

Neurocutaneous melanosis / 대한피부과학회지

Neurocutaneous melanosis is a rare congenital syndrome characterized by the presence of large or multiple congenital pigmented nevi and a benign or maigrant pigment cell tumor of the leptomeninges. The s ndrome is thought to represent an erroi in the morphogenesis of the embryonal neuroectoderm. Even in the absence of melanorra, symptomatic neurocut.aneous melanosis has extremely poor prognosis. We report a case of neiirocutaneous melanosis in 38-year-old male. He was noted at birth to have a giant pigmented nevus on the bathing trunk area. He presneted with severe headache. Brain CT sca n was performed and 4 x 4cm sized well demarcated contrast enhanced mass was seeii in the right frontal lobe. Histopathologically, the tumor was composed of malignant melanoma cells. Multiple skin biopsies werperformed on the giant pigmented nevus and small nevi. All of the specimens revealed patterns typical of cornpound nevi. Dermatologists following patients with large or multiple congenial pigmented nevi should be aware of this condition to aid in prompt diagnosis.

A Case Report of Giant Pigmented Nevus Associated with Porencephaly: A Variant of Neurocutaneous Melanosis

Giant pigmented nevus is a variety of congenital melanocytic nevi, and may be associated with various abnormalities, such as skeletal malformation, lipoma, vascular nevi, melanosis in the meninges, meningocele, and intracranial arteriovenous malformation. We report a case with congenital giant pigmented nevus and porencephaly. This association should be considered as the spectrum of neurocutaneous syndromes related to congenital giant pigmented nevus.