Neurocutaneous Melanosis Research Articles

Neurocutaneous Melanosis with Bilateral Temporal Lobe Lesions without Leptomeningeal Enhancement: A Distinct Entity or Subtype.

Neurocutaneous melanosis (NCM) is a rare congenital disorder. Most of the cases described in literature for this entity have involvement of the leptomeninges and other structures of brain such as brain stem, temporal lobes, and spinal meninges and no involvement of leptomeninges and presence of lesions in bilateral temporal lobes. NCM without the involvement of leptomeninges should be considered a distinct entity as the prognosis is favorable as compared to cases with leptomeningeal involvement who develop early hydrocephalus and multiple cranial nerve palsies.

Melanoza nerwowo-skórna u noworodka stwierdzona prenatalnie badaniami obrazowymi

ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Huras H, Hurkała J, Radoń-Pokracka M, et al. Neurocutaneous melanosis in a newborn identified prenatally by non-invasive imaging. Dermatology Review/Przegląd Dermatologiczny. 2018;105(4):558-561. doi:10.5114/dr.2018.78078. APA Huras, H., Hurkała, J., Radoń-Pokracka, M., Dyduch, G., Taczanowska-Niemczuk, A., & Jach, R. et al. (2018). Neurocutaneous melanosis in a newborn identified prenatally by non-invasive imaging. Dermatology Review/Przegląd Dermatologiczny, 105(4), 558-561. https://doi.org/10.5114/dr.2018.78078 Chicago Huras, Hubert, Joanna Hurkała, Małgorzata Radoń-Pokracka, Grzegorz Dyduch, Anna Taczanowska-Niemczuk, Robert Jach, and Jakub Droś et al. 2018. "Neurocutaneous melanosis in a newborn identified prenatally by non-invasive imaging". Dermatology Review/Przegląd Dermatologiczny 105 (4): 558-561. doi:10.5114/dr.2018.78078. Harvard Huras, H., Hurkała, J., Radoń-Pokracka, M., Dyduch, G., Taczanowska-Niemczuk, A., Jach, R., Droś, J., and Lauterbach, R. (2018). Neurocutaneous melanosis in a newborn identified prenatally by non-invasive imaging. Dermatology Review/Przegląd Dermatologiczny, 105(4), pp.558-561. https://doi.org/10.5114/dr.2018.78078 MLA Huras, Hubert et al. "Neurocutaneous melanosis in a newborn identified prenatally by non-invasive imaging." Dermatology Review/Przegląd Dermatologiczny, vol. 105, no. 4, 2018, pp. 558-561. doi:10.5114/dr.2018.78078. Vancouver Huras H, Hurkała J, Radoń-Pokracka M, Dyduch G, Taczanowska-Niemczuk A, Jach R et al. Neurocutaneous melanosis in a newborn identified prenatally by non-invasive imaging. Dermatology Review/Przegląd Dermatologiczny. 2018;105(4):558-561. doi:10.5114/dr.2018.78078.

Adult-onset neurocutaneous melanosis with Dandy–Walker malformation

Neurocutaneous melanosis (NCM) is characterized by diffuse or focal proliferation of melanin-producing cells over the skin or leptomeninges. Even without malignant transformation, the prognosis is poor after symptomatic progression of NCM, resulting from either mass effect in central nervous system or hydrocephalus. We reported a 26-year-old female patient with rapid deterioration after the onset of NCM. Despite no solid tumor formation, elevated cerebrospinal fluid protein content, which complicated shunting procedure, associated with hydrocephalus played the key role in clinical deterioration. Adult onset of NCM with Dandy–Walker malformation was never reported in our literature review. Diagnosis and treatment for such disease entity are discussed.

Keratinocyte Sonic Hedgehog Upregulation Drives the Development of Giant Congenital Nevi via Paracrine Endothelin-1 Secretion

Giant congenital nevi are associated with clinical complications such as neurocutaneous melanosis and melanoma. Virtually nothing is known about why some individuals develop these lesions. We previously identified the sonic hedgehog (Shh) pathway regulator Cdon as a candidate nevus modifier gene. Here we validate this by studying Cdon knockout mice, and go on to establishing the mechanism by which Shh exacerbates nevogenesis. Cdon knockout mice develop blue nevi without the need for somatic melanocyte oncogenic mutation. In a mouse model carrying melanocyte NRASQ61K, we found that strain backgrounds that carry genetic variants that cause increased keratinocyte Shh pathway activity, as measured by Gli1 and Gli2 expression, develop giant congenital nevi. Shh components are also active adjacent to human congenital nevi. Mechanistically, this exacerbation of nevogenesis is driven via the release of the melanocyte mitogen endothelin-1 from keratinocytes. We then suppressed nevus development in mice using Shh and endothelin antagonists. Our work suggests an aspect of nevus development whereby keratinocyte cytokines such as endothelin-1 can exacerbate nevogenesis, and provides potential therapeutic approaches for giant congenital nevi. Furthermore, it highlights the notion that germline genetic variation, in addition to somatic melanocyte mutation, can strongly influence the histopathological features of melanocytic nevi.

Neurocutaneous Melanosis Associated with Prenatally Diagnosed Arachnoid Cyst.

Neurocutaneous Melanosis Associated with Prenatally Diagnosed Arachnoid Cyst.

Neurocutaneous Melanosis with Intraspinal Malignant Melanoma in Adults — An Extremely Rare Clinical Entity: A Case Report with Review of Literature

Objectives Neurocutaneous melanosis (NCM) in adult patients was rare, and few cases had been reported. In this report, we summarized the features of NCM in adult patients for providing useful information about this rare clinical entity. Methods In this report, we present a case of a 41-year-old woman, who was eventually diagnosed with NCM with intraspinal malignant melanoma. The clinical features, treatments, and prognosis of cases of NCM in adults were thoroughly reviewed and discussed. Results A 41-year-old woman was eventually diagnosed with NCM with intraspinal malignant melanoma. The postoperative course was uneventful and her symptoms significantly improved (VAS: 3 points). However, she developed symptoms of intracranial hypertension and deteriorated rapidly after 11 months of operation, and died 1 month later. To date, only 15 cases of NCM in adults have been reported in the English literature. Analyses showed that the average age was 33.8 years (range 19–65 years), and 11 patients (68.8%) were between 20 and 40 years. A slight male predominance (M:F/11:5) was found. For the 12 cases which detailed follow-up information was available, 9 patients (75%) died, with a survival time ranging from 1 day to 29 months post-operation. Death occurred within the first month of operation in 6 cases (46. 2%). The median survival time was 3 months. Conclusions We presented a rare case of NCM with intraspinal malignant melanoma in an adult patient. Although rare, this clinical entity causes significant mortality and has poor prognosis.

Ataxia telangiectasia, Menkes kinky hair disease and neurocutaneous melanosis.

This article explores three neurocutaneous syndromes (NCSs), i.e. genetic disorders producing developmental abnormalities of the skin and an increased risk of neurological complications. In this review, different aspects of ataxia telangiectasia, Menkes kinky hair disease and neurocutaneous melanosis are examined: clinical features, genetic defect, mutation spectrum, pathogenesis, and neurobiological basis; indications for clinical practice are also provided to the readers. The aim of this review is to stress the importance of cooperation among dermatologists, neurologists and psychiatrists, in order to provide patients suffering from these diseases with timely diagnosis and targeted treatments.

Neurocutaneous Melanosis Presenting with Hydrocephalus & Malignant Transformation: Case Report and Review of the Literature

Neurocutaneous Melanosis Presenting with Hydrocephalus & Malignant Transformation: Case Report and Review of the Literature

CSF cytology diagnosis of NRAS‐mutated primary leptomeningeal melanomatosis with neurocutaneous melanosis

Primary leptomeningeal melanomatosis is an extremely rare, diffuse, malignant melanocytic neoplasm without a localised mass. In this case, both immunocytochemistry and molecular testing were successfully completed using a CSF sample, allowing confirmation of the diagnosis and determination of the mutational status of the melanoma.

Symptomatic Neurocutaneous Melanosis Associated with Dandy Walker Complex

신경피부멜라닌증은 피부와 중추신경계를 침범하는 비가족성 선천성 증후군으로 선천성 모반이 매우 크거나, 3개 이상 다수이면서 양성 또는 악성의 연수막 내 멜라닌세포 증식을 특징으로 하는 드문 증후군이다. 증상이 있는 신경피부멜라닌증의 10%에서 댄디 워커 증후군이 동반되며, 이 경우 예후는 매우 좋지 않다. 저자들은 발작으로 방문하여 신경피부멜라닌증과 댄디...

Melanocytic Nevi in Children: A Review.

Common moles on the skin, known scientifically as melanocytic nevi, are seen frequently in the pediatric population. They are broadly grouped into two groups: congenital (generally present at birth or in infancy) or acquired. Congenital melanocytic nevi (CMN) are classified based on size and morphologic features. Neurocutaneous melanosis and melanoma represent two important complications, with overall risk affected by nevus size, location, appearance, and number of satellite lesions. Regular lifelong skin surveillance is required for high-risk CMN. Acquired melanocytic nevi (AMN) tend to appear in childhood and increase in number through adolescence. Risk factors for melanoma in children with moles include having more than 50 AMN, clinically atypical AMN, family history of melanoma, excessive ultraviolet light exposure, lightly pigmented skin, and immunosuppression. Children with risk factors should be monitored regularly. The periodic health examination presents an opportunity to perform total body skin examination to screen for concerning lesions and to provide anticipatory guidance about sun protection. [Pediatr Ann. 2016;45(8):e293-e298.].

Neurocutaneous melanosis presented with giant congenital melanocytic nevi and primary intracranial melanoma

Neurocutaneous melanosis is a rare neurocutaneous syndrome defi ned by the presence of multiple and /or giant congenital cutaneous nevi and melanocytic deposits in the central nervous system with the infi ltration of leptomeninges. The major medical concern with giant congenital cutaneous nevi is high risk of developing cutaneous melanoma, leptomeningeal melanoma, and neurocutaneous melanosis. Neurological symptoms usually develop before 2 years of age, but rare in the second or third decades of life. A 24-year-old-man with giant hairy, pigmented nevus on his extremities, back, “bathing trunk” variety presented with onset of neurological symptoms only in second decade of life. Magnetic resonance imaging of brain revealed a large expansive lesion in the left parieto-occipital lobe with high intensity on T1- sequence, and was heterogeneous on T2-sequence with iso- and hyper intense areas. Post-surgical pathological diagnosis revealed characteristics of malignant melanoma. Our patient represents a rare association between neurocutaneous melanosis with giant congenital cutaneous nevi and development of primary intracranial melanoma with neurological symptoms appearing in adult life. The onset of neurological symptoms only in third decade of life in our patient illustrates the importance of recognizing the likelihood of neurocutaneous melanosis in children with giant congenital nevus with or without neurological symptoms.Journal of Kathmandu Medical College, Vol. 4(1) 2015, 29-33

Age related changes in brain MR appearance in the course of neurocutaneous melanosis

BackgroundPatients with giant congenital melanocytic nevi (GCMN) have increased risk of neurocutaneous melanosis (NCM). Brain MRI is mandatory in GCMN. ObjectivesTo present the age related changes in brain MRI in children with NCM during several-year follow-up. MethodsIn 7 NCM children following data were analyzed: main nevus localization, surgical treatment phase, histology of excised nevi, time of NCM diagnosis, number of MRI studies, neurological symptoms, changes of melanin deposits in brain during follow-up. ResultsFour children had bathing trunk nevus, two main nevus on back, one on head. Surgical excision is finished in 3 patients, 4 are in the course of multistage surgery. In one melanoma arising in GCMN was diagnosed. Six patients are neurologically healthy, one suffers from seizures. Age of patients at first MRI ranged from 12days to 7 years. All patients underwent more than one MRI. Follow-up period ranges from 2.5 to 8.5 years. Most of T1-hyperintense foci in brains regressed with time. In one case new lesion appeared, in one more lesions were visible on second MRI. ConclusionsIn all patients with NCM on subsequent MRI image changes were found with respect to original location and size of melanin deposits in CNS. Changes of NCM appearance on MRI with advancing age of patients reflect natural history of this disorder. Theory of gradual disappearance of intracerebral melanin deposits with age seems to be more likely than theory of their worse visualization on MRI with time.

Neurocutaneous Melanosis with Giant Congenital Melanocytic Nevi

Neurocutaneous Melanosis with Giant Congenital Melanocytic Nevi

Neurocutaneous melanosis with Dandy-Walker malformation: A rare case report

Neurocutaneous melanosis is a rare congenital disorder characterized by the presence of large or multiple congenital melanocytic cutaneous nevi associated with intracranial leptomeningeal melanocytosis. An association with Dandy-Walker malformation has been reported in 8-10% of children with neurocutaneous melanosis. [1] The main objective of this case report is to present the rare association as only few cases have been reported in literature, besides, as well, to discuss this as a case that appeared to be as meningitis with posterior fossa cystic malformation but turned out as neurocutaneous melanosis with Dandy-Walker malformation. In addition, we wanted to highlight the importance of correlating clinical examination findings with imaging findings and not limiting to imaging findings alone.

COURSE PECULIARITIES OF NEUROCUTANEOUS MELANOSIS IN CHILDREN

Neurocutaneous melanosis is part of a group of hereditary diseases characterized by large and/or multiple pigmented nevi, melanosis or melanoma of the pia mater, with no evidence of malignant skin lesions and involvement of other organs. The disease was described over 150 years ago, but its pathogenesis has not been studied yet, and treatment methods have not been developed yet. Different disease courses due to the pronounced polymorphism of clinical symptoms complicate the diagnosis, and the low efficacy of the symptomatic treatment worsens the disease prognosis. The article describes the experience of managing children with phakomatoses not similar to each other neither in debut and course nor in response to the therapy and prognosis. Early diagnosis of neurocutaneous melanosis in children allows to carry out timely symptomatic treatment and dynamical monitoring, and to improve the survival of patients.

Mosaic Neurocutaneous Disorders and Their Causes

Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. In a number of such disorders, the skin abnormalities can assume a mosaic patterning (usually arranged in archetypical patterns). Alternating segments of affected and unaffected skin or segmentally arranged patterns of abnormal skin often mirror similar phenomena occurring in extra-cutaneous organs/tissues [eg, eye, bone, heart/vessels, lung, kidney and gut]. In some neurocutaneous syndromes the abnormal mosaic patterning involve mainly the skin and the nervous system configuring a (true) mosaic neurocutaneous disorder; or an ordinary trait of a neurocutaneous disorder is sometimes superimposed by a pronounced linear or otherwise segmental involvement; or, lastly, a neurocutaneous disorder can occur solely in a mosaic pattern. Recently, the molecular genetic and cellular bases of an increasing number of neurocutaneous disorders have been unravelled, shedding light on the interplays between common intra- and extra-neuronal signalling pathways encompassing receptor-protein and protein-to-protein cascades (eg, RAS, MAPK, mTOR, PI3K/AKT and GNAQ pathways), which are often responsible of the mosaic distribution of cutaneous and extra-cutaneous features. In this article we will focus on the well known, and less defined mosaic neurocutaneous phenotypes and their related molecular/genetic bases, including the mosaic neurofibromatoses and their related forms (ie, spinal neurofibromatosis and schwannomatosis); Legius syndrome; segmental arrangements in tuberous sclerosis; Sturge-Weber and Klippel-Trenaunay syndromes; microcephaly/megalencephaly-capillary malformation; blue rubber bleb nevus syndrome; Wyburn-Mason syndrome; mixed vascular nevus syndrome; PHACE syndrome; Incontinentia pigmenti; pigmentary mosaicism of the Ito type; neurocutaneous melanosis; cutis tricolor; speckled lentiginous syndrome; epidermal nevus syndromes; Becker's nevus syndrome; phacomatosis pigmentovascularis and pigmentokeratotica; Proteus syndrome; and encephalocraniocutaneous lipomatosis.

Revisiting neurocutaneous melanosis spectrum: do we have to undertake systematic magnetic resonance imaging in children with congenital melanocytic naevi?

Revisiting neurocutaneous melanosis spectrum: do we have to undertake systematic magnetic resonance imaging in children with congenital melanocytic naevi?

Unusual Giant Syringomyelia with Neurocutaneous Melanosis

A two year old male presented with feeding intolerance and lethargy. Mother had normal delivery with term baby. The patient denied previous trauma or recent weight loss. Physical examination revealed neurocutaneous melanosis (NCM) over lower back side of body and no signs of peripheral motor deficit or abnormal reflexes. Hematological investigations showed no abnormality. Magnetic resonance (MR) imaging found a large, cystic cavity that was eccentric in the cervicothoracic spine extending from C3 to L1. Suboccipital decompressive craniectomy, bilateral C1 laminectomy, and occipital duraplasty were done. J Nepal Paediatr Soc 2014;34(3):250-251 DOI: http://dx.doi.org/10.3126/jnps.v34i3.11165

Primary melanocytic tumors of the central nervous system: a review with focus on molecular aspects.

Primary melanocytic tumors of the central nervous system (CNS) represent a spectrum of rare tumors. They can be benign or malignant and occur in adults as well as in children, the latter often in the context of neurocutaneous melanosis. Until recently, the genetic alterations in these tumors were largely unknown. This is in contrast with cutaneous and uveal melanomas, which are known to harbor distinct oncogenic mutations that can be used as targets for treatment with small-molecule inhibitors in the advanced setting. Recently, novel insights in the molecular alterations underlying primary melanocytic tumors of the CNS were obtained, including different oncogenic mutations in tumors in adult patients (especially GNAQ, GNA11) vs. children (especially NRAS). In this review, the focus is on molecular characteristics of primary melanocytic tumors of the CNS. We summarize what is known about their genetic alterations and discuss implications for pathogenesis and differential diagnosis with other pigmented tumors in or around the CNS. Finally, new therapeutic options with targeted therapy are discussed.