Neurocutaneous melanosis in children with giant congenital melanocytic nevi

Bekiesińska‐Figatowska, Monika; Szczygielski, Orest; Boczar, Maria; Mądzik, Jarosław; Klepacka, Teresa; Michalak, Elżbieta; Romaniuk-Doroszewska, Anna; Uliasz, Maria; Pęczkowski, Paweł; Sawicka, Ewa

doi:10.1016/j.clinimag.2013.10.001

Cited by 29 publications

(12 citation statements)

References 14 publications

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“…Most cases with an identifiable cause have a somatic gain-of-function mutation in codon 61 of the NRAS gene (MIM# 164790) located on chromosome 1p13 [ 4 - 7 ]. Approximately 30% of affected children have melanin deposits detectable in the leptomeninges or brain [ 8 ] and half have epilepsy [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

Oncogenic codon 13 NRAS mutation in a primary mesenchymal brain neoplasm and nevus of a child with neurocutaneous melanosis

Shih

Yip

McDonald

et al. 2014

acta neuropathol commun

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A 28-month female with a clinical diagnosis of neurocutaneous melanosis and numerous intracranial abnormalities (including a right choroid plexus tumor and left hemimegalencephaly) presented with a rapidly expanding tumor in the left occipital cerebrum. Microscopic examination of the resected specimen revealed a myxoid mesenchymal neoplasm consisting of fusiform cells that were immunoreactive for vimentin, CD34, and P53 but no melanocyte markers. Focused amplicon deep sequencing on DNA extracted from the brain tumor and a cutaneous nevus revealed a heterozygous (c.37G > C; p.G13R) substitution in the NRAS gene. DNA sequencing of “normal” skin and buccal swab showed the identical NRAS change albeit at lower allelic frequency. Her parents did not harbor the NRAS mutation. The skin lesion, but not the brain tumor, had a BRAF mutation (c.1397G > T; p.G466V). A germline single nucleotide polymorphism in MET was found in the child and her father (c.3209C > T; p.T1010I). The findings suggest NRAS mosaicism that occurred sometime after conception and imply an oncogenic role of the activating NRAS mutation in both the brain and skin lesions in this child.

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Section: Introductionmentioning

confidence: 99%

Oncogenic codon 13 NRAS mutation in a primary mesenchymal brain neoplasm and nevus of a child with neurocutaneous melanosis

Shih

Yip

McDonald

et al. 2014

acta neuropathol commun

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“…Structural brain malformations may also accompany neurocutaneous melanocytosis and the Dandy-Walker complex Axial T1-weighted image demonstrates foci (white arrows) of T1-shortening in the cerebellum and at the right cerebellopontine angle is commonly associated. Also, neurocutaneous melanocytosis may be associated with other neurocutaneous disorders, including Sturge-Weber syndrome, and neurofibromatosis type 1 [4]. Neurocutaneous melanocytosis can cause hydrocephalus due to obstruction of the CSF flow by melanocytic infiltration of the leptomeninges or arachnoid villi.…”

Section: Discussionmentioning

confidence: 97%

Neurocutaneous melanocytosis, hemimegalencephaly and large ovarian cyst in a newborn

et al. 2015

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“…These tests help narrow down the differential diagnosis and determine the extent or depth of a given lesion (also during follow‐up). Large congenital nevi (> 20 cm) and those associated with satellite nevi should be worked up for neurocutaneous melanocytosis (in 5–10 %) as soon as possible using cranial MRI, especially if there are neurological symptoms (signs of increased intracranial pressure) .…”

Section: Diagnosismentioning

confidence: 99%

Scalp tumors

Prodinger

Koller

Laimer

2018

J Deutsche Derma Gesell

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Tumors of the scalp are characterized by an impressively broad and heterogeneous clinical spectrum. They frequently exhibit site-specific features distinguishing them from their counterparts elsewhere on the skin. Although mostly benign, diagnosis and treatment of these lesions may pose a significant challenge due to impaired visibility (and thus delayed detection), anatomical circumstances, exposure to (exogenous) noxious agents, distinct histological features, as well as the often-advanced age of affected individuals. This is even more true for malignant tumors of the scalp, which are uncommon but associated with a poor prognosis. Adequate patient care therefore requires interdisciplinary management. Against this background, the present article addresses general principles and distinct features of the most important tumors of the scalp.

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Neurocutaneous melanosis in children with giant congenital melanocytic nevi

Cited by 29 publications

References 14 publications

Oncogenic codon 13 NRAS mutation in a primary mesenchymal brain neoplasm and nevus of a child with neurocutaneous melanosis

Oncogenic codon 13 NRAS mutation in a primary mesenchymal brain neoplasm and nevus of a child with neurocutaneous melanosis

Neurocutaneous melanocytosis, hemimegalencephaly and large ovarian cyst in a newborn

Scalp tumors

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