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]

We present the case of a 3 year old male previously healthy with the presence of cutaneous nevi in different localizations which presented with progressive headache and alteration in mental status in which infiltration of melanin to central nervous system [go.gale.com]

• Asymptomatic

  This, combined with the asymptomatic nature of most cases, led to the early belief that all cases were fatal. [en.wikipedia.org]

  particularly of asymptomatic patients (only two of 13). [adc.bmj.com]

  The exact incidence of NCM and its outcome in otherwise asymptomatic persons with GCMN is not known. [neurologyindia.com]

• Hypertrichosis

  Congenital melanocytic naevi should be described according to their body site, colours, surface features and whether or not there is hypertrichosis (hairs). [dermnetnz.org]

  Excessive hair growth (hypertrichosis) can occur within the nevus. There is often less fat tissue under the skin of the nevus; the skin may appear thinner there than over other areas of the body. [mommysmermaid.com]

  The scalp showed another patch (7x5cm) with marked hypertrichosis. The birth weight was 3.2 kg, head circumference 33 cm and total body length 51 cm. His neurological examination was normal. [neurologyindia.com]

  It had a smooth surface, with localized hypertrichosis over the left thigh. There were a total of 20 satellite lesions distributed over the arms, forearms, upper trunk, thighs, and legs, beyond the border of the main nevi. [e-ijd.org]

• Cutaneous Manifestation

  In view of the multiple melanotic cutaneous manifestations found in our patient, the presumptive diagnosis of a primary amelanotic melanoma of the brain could be suggested. [ajnr.org]

  Surgical management of the cutaneous manifestations of linear nevus sebaceus syndrome., Plast. Reconstr. Surg., 111, 1043-50. Masnari, O., Landolt, M.A., Roessler, J., Weingaertner, S.K., Neuhaus, K., Meuli, M., Schiestl, C., 2012. [naevusglobal.org]

• Hirsutism

  Individuals with Neurocutaneous Melanocytosis may be asymptomatic, or present with signs and symptoms such as: A large pigmented birthmark and/or many small pigmented birthmarks Abnormal growth of hair on the body (hirsutism) Spinal cord compression leading [dovemed.com]

• Suggestibility

  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]

  The authors describe a case of neurocutaneous melanosis with leptomeningeal melanocytoma of the S1 root in which the symptoms and imaging aspects misleadingly suggested a diagnosis of schwannoma. [novaresearch.unl.pt]

• Meningism

  Diffuse leptomeningeal melanocytosis (DLM) is a rare nevomelanocytic proliferation arising in the meninges. [ncbi.nlm.nih.gov]

  Discussion: We found no other case report in the literature of lumbar meningeal melanocytoma in the setting of neurocutaneous melanosis. Meningeal melanocytomas are rare and their differential diagnosis must include malignant melanoma. [novaresearch.unl.pt]

  Multifocal meningeal melanocytoma of the conus medullaris. Acta Neurochir. 2011. 153: 2283-5 14. Rades D, Heidenreich F, Tatagiba M, Brandis A, Karstens JH. Therapeutic options for meningeal melanocytoma. Case report. [surgicalneurologyint.com]

  The post-contrast images of the brain and spine above reveal diffuse meningeal enhancement and mild residual dilatation of the ventricles post ventriculoperitoneal shunt (not shown). [roentgenrayreader.blogspot.com]

• Neurologic Manifestation

  NCM can present with severe neurologic manifestations, and usually has a relentless clinical progression whence neurologic symptoms appear. [scholars.northwestern.edu]

  The neurological manifestations often appear in infancy.The special association of neurocutaneous melanosis with Dandy-Walker malformation complex may be explained by a common pathogenesis. Mortality in infancy and childhood is high. [ncbi.nlm.nih.gov]

  Neurologic manifestations typically occur during the first year, most commonly with symptoms of increased intracranial pressure and/or hydrocephalus. Another frequent presenting symptom is seizures. [clinicaladvisor.com]

Available at: http://emedicine.medscape.com/article/1058445-overview#showall http://emedicine.medscape.com/article/1058445-clinical#showall http://emedicine.medscape.com/article/1058445-workup#showall http://emedicine.medscape.com/article/1058445-treatment [rarediseases.org]

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]

Furthermore, 75% of tumor cells in the pre-treatment sample were positive in the pERK stain versus 25% of tumor cells in the post-treatment sample (Figure 4 E, pre-treatment, and Figure 4 F pERK staining post-treatment). [actaneurocomms.biomedcentral.com]

[…] as there is no effective treatment for the disorder. [en.wikipedia.org]

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]

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]

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]

The etiology is unknown, but neurocutaneous melanosis is considered a developmental disorder of melanocyte precursors from neural crest. [ncbi.nlm.nih.gov]

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]

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]

The etiology of congenital melanocytic nevi has not been elucidated. [emedicine.medscape.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 [ilmelanoma.com]

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. [en.wikipedia.org]

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]

Epidemiology Frequency Congenital nevi are present in 1-2% of newborn infants. [emedicine.medscape.com]

[…] being the most common, usually a solitary plaque growing in proportion to that of the child, and a second type composed of many lesions, at least one being large and surrounded by many others and sometimes involving bone and central nervous system. [4] Pathophysiology [emedicine.medscape.com]

How can Neurocutaneous Melanocytosis be Prevented? Currently, Neurocutaneous Melanocytosis is a condition without any preventive methods, as it is the result of a genetic mutation prior to birth. [dovemed.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]

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]