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Neurocutaneous Melanocytosis

NCM


Presentation

  • Here, we present an adult onset NCM. A 17-year-old boy presented with headache and double vision for 1 month.[ncbi.nlm.nih.gov]
  • A somatic NRASQ61K mutation was present in both CMN as well as the melanocytosis. Despite repeated surgery, the patient showed clinical progression. Therefore, treatment with MEK162, a MEK inhibitor, was started on compassionate use base.[ncbi.nlm.nih.gov]
  • Neurological features typically present in the first or second year.[rarediseases.info.nih.gov]
  • A 14-day-old boy presented with a large congenital melanocytic nevus over his left thigh with approximately 17 satellite nevi distributed over the rest of his skin surface.[ncbi.nlm.nih.gov]
  • NCM can present with severe neurologic manifestations, and usually has a relentless clinical progression whence neurologic symptoms appear.[ncbi.nlm.nih.gov]
Angiomatosis
  • The coincidence of neurocutaneous melanosis and encephalofacial angiomatosis. Clin Neuropathol 1986 ; 5 : 246 -251 Demirci A, Kawamura Y, Sze G, Duncan C. MR of parenchymal neurocutaneous melanosis.[ajnr.org]
Quadriplegia
  • Planned for craniospinal irradiation by three-dimensional conformal radiotherapy with a dose of 36 Gy, in 18 fractions (2 Gy/fraction and 5 days in a week) along with steroids however patient progressed and developed quadriplegia with intradural metastasis[ncbi.nlm.nih.gov]
  • During the course of treatment, patient also developed quadriplegia.[cancerjournal.net]
Tonic-Clonic Seizure
  • Six weeks later, he developed generalized tonic-clonic seizures and additional satellite nevi became apparent (n 20). A subsequent brain magnetic resonance imaging demonstrated right temporal T1 hyperintense signal abnormality.[ncbi.nlm.nih.gov]

Treatment

  • We observed lower MIB-1 expression and lower pERK expression in the post-treatment samples compared to pre-treatment, suggesting a potential effect of MEK inhibiting therapy.[ncbi.nlm.nih.gov]
  • Currently, it has an extremely poor prognosis due to rapid disease progression and lack of effective treatment modalities.[ncbi.nlm.nih.gov]
  • The associations between these outcomes and the clinical covariates (anatomical location of the LCMN, size of the LCMN, number of satellite lesions, family history of melanoma, patient sex and treatment) were assessed.[ncbi.nlm.nih.gov]
  • The high incidence of CNS involvement may influence decisions concerning treatment of the large congenital melanocytic nevi.[ncbi.nlm.nih.gov]

Prognosis

  • Currently, it has an extremely poor prognosis due to rapid disease progression and lack of effective treatment modalities.[ncbi.nlm.nih.gov]
  • Further studies are needed to determine whether MEK inhibitors can effectively target NRAS-mutated symptomatic NCM. [12] Prognosis [ edit ] The majority of patients with neurocutaneous melanosis are asymptomatic and therefore have a good prognosis with[en.wikipedia.org]
  • Treatment and prognosis Prognosis in symptomatic cases is extremely poor, even in the absence of malignant transformations, particularly when associated with a Dandy-Walker malformation 7. Hydrocephalus is the most common complication.[radiopaedia.org]
  • Leptomeningeal melanocytosis carries a poor prognosis once neurological symptoms develop. Despite surgery, which is often not radical, few other treatment options exist.[ncbi.nlm.nih.gov]

Etiology

  • The etiology is unknown, but neurocutaneous melanosis is considered a developmental disorder of melanocyte precursors from neural crest.[ncbi.nlm.nih.gov]
  • Finally, the absence of dysmorphic neurons is consistent with the view that etiologically the lesion represents a developmental malformation involving neural crest-derived and neuroepithelial cells (6).[path.upmc.edu]
  • Ongoing controversies regarding etiology, diagnosis, treatment N/A Copyright 2017, 2013 Decision Support in Medicine, LLC. All rights reserved.[clinicaladvisor.com]
  • We discuss possible etiologies. Key Words Giant nevus Mills syndrome neurocutaneous melanosis primary lateral sclerosis phakomatosis chronic hemiparesis This is a preview of subscription content, log in to check access.[link.springer.com]

Epidemiology

  • Clinical presentation, epidemiology, pathogenesis, histology, malignant transformation, and neurocutaneous melanosis". Journal of the American Academy of Dermatology. 67 (4): 495.e1–495.e17. doi : 10.1016/j.jaad.2012.06.023. PMID 22980258.[en.wikipedia.org]
  • Melanoma Blog Melanoma Tipi particolari di melanoma Melanoma dell’occhio Melanoma dell’iride Melanoma del corpo ciliare Melanoma epidemiology Melanoma: risk factors Skin phototypes Fitzpatrick classification Glogau classification of photoaging Melanoma[ilmelanoma.com]
  • Epidemiology of congenital pigmented naevi: Incidence rates and relative frequencies. Br J Dermatol 1981;104:307-15. 4. Ruiz-Maldonado R, Tamayo L, Laterza A, et al. Giant pigmented nevi: Clinical, histopathologic and therapeutic considerations.[neurologyindia.com]
  • Epidemiology of congenital pigmented naevi: I. Incidence rates and relative frequencies. The British Journal of Dermatology 104, 307-15. Chan, Y.-C. and Giam, Y.-C. (2006).[rarediseases.org]
Sex distribution
Age distribution

Prevention

  • Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive[jamanetwork.com]
  • Melanoma Blog Melanoma Tipi particolari di melanoma Melanoma dell’occhio Melanoma dell’iride Melanoma del corpo ciliare Melanoma epidemiology Melanoma: risk factors Skin phototypes Fitzpatrick classification Glogau classification of photoaging Melanoma prevention[ilmelanoma.com]
  • There is no known method of prevention. They appear in either sex, in all races, and on any areas of the skin. In terms of physical health, pigmented moles have been linked to melanoma, a potentially deadly skin cancer.[playdateconnection.com]
  • […] high-grade lesions. [16], [17] A study by Brat et al. classified CNS pigmented lesions into low grade and high grade lesions. [18] Management Management of giant nevi is still controversial, some dermatologists advice prophylactic excision of lesion, thereby preventing[cancerjournal.net]

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