Neurocutaneous melanosis

Rocco, F. Di; Sabatino, Giovanni; Koutzoglou, Michalis; Battaglia, Domenica; Caldarelli, Massimo; Tamburrini, Giampiero

doi:10.1007/s00381-003-0835-9

Cited by 72 publications

(52 citation statements)

References 19 publications

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“…A few more than 100 cases have been published so far [1][2][3][4][5]10,11,[13][14][15][16]18,19) . This disease is characterized by one or multiple large congenital melanocytic nevi and diffuse or nodular leptomeningeal involvement of melanocytes.…”

Section: Discussionmentioning

confidence: 99%

“…Although the pathogenesis of neurocutaneous melanosis has not been elucidated, theories focus on defective morphogenesis of the neural ectoderm in the developing embryo [1][2][3][4][5]8,[10][11][12][13][14][15] . Melanocytes of the skin and pia mater are believed to be derived from multipotential precursor cells of the neural crest.…”

Section: Case Reportmentioning

confidence: 99%

“…Whether the ventricular outlet is obstructed or not, the dysgenesis of the cerebellum and fourth ventricle may result in the gradual accumulation of CSF in the posterior fossa, but still allow absorption in a critical equilibrium because of the relatively high-pressure gradient between the CSF pathway and the venous compartment. The physiological increase in systemic blood pressure after birth results in a decreased pressure gradient and a disruption of the absorption of CSF, leading to hydrocephalus [1][2][3][4][5]7,[10][11][12][13][14]18,19) . At least 100 cases of neurocutaneous melanosis have been reported; in 15 cases, there were associations between DandyWalker malformation and neurocutaneous melanosis [1][2][3][4][10][11][12][13][14][15][16]18,19) .…”

Section: Case Reportmentioning

confidence: 99%

“…The common neurological manifestations of these two abnormalities are irritability, seizures, lethargy, nausea and vomiting, neck stiffness, bulged fontanels, papilledema, and cranial nerve palsies, which are the signs and symptoms of increased intracranial pressure. Once the neurological symptoms manifest, the course is usually progressive and fatal due to primary CNS melanosis 1,3,5,10,12,[14][15][16] . The association of Dandy-Walker malformation with neurocutaneous melanosis seems to have an extremely poor prognosis.…”

Section: Case Reportmentioning

confidence: 99%

“…Neurocutaneous melanosis is a rare dysmorphogenesis that is associated with single and multiple giant pigmented cutaneous nevi and the involvement of benign and/or malignant melanocytic tumors of the leptomeninges. After the first description by Rokitansky 17) , around 100 cases of neurocutaneous melanosis have been reported in the literature [1][2][3]5,10,11,[13][14][15][16]18,19) . Eight to 10% of these were associated with Dandy-Walker malformation, indicating a common origin of these developmental abnormalities [1][2][3]7,10,11,13,14,18,19) .…”

Section: Introductionmentioning

confidence: 99%

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Dandy-Walker Malformation Associated with Neurocutaneous Melanosis

Cho

Hwang

Kim

2011

J Korean Neurosurg Soc

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475a large head, and multiple pigmented, hairy nevi were observed over her whole body (Fig. 1). Computerized tomography (CT) showed vermian hypoplasia and bi-compartmental hydrocephalus. The fourth ventricle was enlarged and seemed to be continuous with the cisterna magna, suggesting a Dandy-Walker malformation ( Fig. 2A). Magnetic resonance imaging (MRI) was also compatible with Dandy-Walker malformation and high-pressure hydrocephalus. The images demonstrated a large posterior fossa and communication with the enlarged fourth ventricle through the remaining cerebrospinal fluid (CSF) pathway, and aplasia of the cerebellar vermis, hypoplasia of the cerebellar hemisphere, and a high position of the tentorium (Fig. 2B). The patient developed generalized seizures, and a repeated radiological study suggested a possible tonsillar herniation. She underwent a ventriculoperitoneal shunting procedure (program- INTRODUCTIONThe association of congenital abnormalities of the skin and the central nervous system is well recognized. Neurocutaneous melanosis is a rare dysmorphogenesis that is associated with single and multiple giant pigmented cutaneous nevi and the involvement of benign and/or malignant melanocytic tumors of the leptomeninges. After the first description by Rokitansky 17) , around 100 cases of neurocutaneous melanosis have been reported in the literature [1][2][3]5,10,11,[13][14][15][16]18,19) . Eight to 10% of these were associated with Dandy-Walker malformation, indicating a common origin of these developmental abnormalities [1][2][3]7,10,11,13,14,18,19) . We report the clinical features, neuroimaging findings, and therapeutic management of a rare case of neurocutaneous melanosis associated with Dandy-Walker malformation. CASE REPORTA two-month-old female patient was first admitted to our hospital with complaints of vomiting and a gradually enlarging head circumference. She did not have an eventful history or pregnancy except for multiple melanocytic nevi over her whole body. She had attained normal neurodevelopmental milestones until 2 months of age.In her initial physical examination, she was lethargic and had 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.

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