|Year : 2015 | Volume
| Issue : 3 | Page : 649
Neurocutaneous melanocytosis presenting in a teenager: A case report and review of the literature
I Monica1, L Pavan Kumar1, Megha S Uppin2, Kotiyala V Jagannath Rao Naidu1
1 Department of Radiation Oncology, Nizams Institute of Medical Sciences, Hyderabad, Andhra Pradesh, India
2 Department of Pathology, Nizams Institute of Medical Sciences, Hyderabad, Andhra Pradesh, India
|Date of Web Publication||9-Oct-2015|
L Pavan Kumar
Department of Radiation Oncology, Nizams Institute of Medical Sciences, Hyderabad - 500 082, Andhra Pradesh
Source of Support: None, Conflict of Interest: None
Neuro cutaneous melanocytosis (NCM) is a non-familial, congenital disorder characterized by multiple congenital nevi and brain or leptomeningeal abnormal melanin deposits. Here, we present an adult onset NCM. A 17-year-old boy presented with headache and double vision for 1 month. Magnetic resonance imaging of the brain showed hydrocephalus and abnormal meningeal hyper intensities in supra and infratentorial regions predominantly in the posterior fossa. Para medullary region showed an 11 × 10 mm nodular contrast enhancing nodule. Resection of an intramedullary central nervous system lesion revealed melanoma while skin biopsy was benign melanocytic nevus. As per Kadonaga and Frieden criteria, a diagnosis of NCM was made. 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.
Keywords: Congenital nevi, neuro cutaneous melanosis, rapid progression
|How to cite this article:|
Monica I, Kumar L P, Uppin MS, Jagannath Rao Naidu KV. Neurocutaneous melanocytosis presenting in a teenager: A case report and review of the literature. J Can Res Ther 2015;11:649
|How to cite this URL:|
Monica I, Kumar L P, Uppin MS, Jagannath Rao Naidu KV. Neurocutaneous melanocytosis presenting in a teenager: A case report and review of the literature. J Can Res Ther [serial online] 2015 [cited 2019 Nov 22];11:649. Available from: http://www.cancerjournal.net/text.asp?2015/11/3/649/138201
| > Introduction|| |
Neuro cutaneous melanocytosis (NCM) is a non-familial, congenital disorder characterized by the presence of multiple congenital nevi and brain or leptomeningeal abnormal melanin deposits.  After its first description by Rokitansky in 1861, a number of case reports of this entity are published in the literature. In the process of embryogenesis melanocytic precursors migrate from the neural crest to the skin and leptomeninges, abnormalities in this process lead to proliferation, abnormal deposition of melanin in the leptomeninges. ,, The NCM usually manifests in pediatric age group with the onset of symptoms within 2 years of age. ,, We report an adult onset NCM with central nervous system (CNS) melanoma and benign cutaneous nevi.
| > Case report|| |
The present case report is about a 17-year-old college student who presented with the complaints of headache, vomiting and double vision of 1 month duration. Physical examination revealed multiple hairy nevi involving all over body, largest lesion measuring 10 × 5 cm over back, left sixth cranial nerve palsy noted and there was no other neurological deficit [Figure 1]. Magnetic resonance imaging (MRI) of the brain revealed hydrocephalus involving all ventricles particularly fourth ventricle. Abnormal meningeal hyperintensity on fluid attenuated inversion recovery images in both supra and infra tentorial regions were seen with prominent enhancement in the posterior fossa. A nodular lesion present in para medullary region intensely enhancing, 11 × 10 mm in size and causing mass effect on medulla [Figure 2] and [Figure 3].
|Figure 2: MRI: Paramedullary region showed an 11 × 10 mm cystic lesion which was intensely contrast enhancing and causing mass effect on medulla|
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|Figure 3: Magnetic resonance imaging spine revealed metastatic deposits in the intra dural, extra medullary location enclosing cord|
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The patient underwent a ventriculo peritoneal shunt placement for reduction in hydrocephalus along with excision of posterior fossa cyst. The cyst wall was tarry dark in color, bulging from dura, anteriorly attached to cerebellar surface without clear-cut demarcation from cerebellar cortex.
In the post-operative period on day 3 patient developed paresthesias in both lower limbs, that progressed to paraplegia along with urinary incontinence on day 5. MRI spine done, it was showing deposits from C1 to S1 level, in the intra dural, extra medullary location enclosing cord, conus and filum terminale.
The histopathology sections showed a lesion attached to leptomeninges. The cells were arranged in sheets. The cells were pleomorphic with prominent nucleoli. Atypical mitosis was brisk and there was abundant extra and intracellular melanin pigment. Immunohistochemical stains with S-100 and HMB-45 showed strong positivity in the tumor cells. Ki67 proliferation index was 21%. A diagnosis of melanoma was given [Figure 4].
|Figure 4: (a) The cells arranged in sheets along the leptomeninges. (c) The cells showed prominent nucleoli and atypical mitotic activity. (b) Ki67 labelling index was very high and (d) Immunohstochemistry with HMB-45 showed diffuse cytoplasmic and membrane expression within the cells|
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The skin biopsy showed aggregates of round cells in the superficial dermis. The cells were monomorphic without any atypia or mitosis. The cells were laden with melanin pigment. There was no junctional activity or other features of malignancy. The biopsy features were consistent with a diagnosis of benign intradermal nevus [Figure 5].
|Figure 5: (a and b) The skin biopsy showing the presence of mononuclear nevus cells in the dermis. The cells have bland nuclei and intracytoplasmic melanin pigment. There is no atypia or mitosis|
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Constellation of the findings including multiple benign nevi on the skin with melanoma in the posterior fossa and diffuse leptomeningeal melanocytosis of the spine, a final diagnosis of neurocutaneous melanocytosis was made.
Craniospinal irradiation by three-dimensional conformal radiotherapy to a dose of 2 Gy/fraction 18 fractions to a total dose of 36 Gy started along with parenteral steroids and antiemetics. During the course of treatment, patient also developed quadriplegia.
| > Discussion|| |
After its first description by Rokitansky, many case reports of NCM are published in the literature including recent publications.  As per the criteria laid down by Kadonaga and Frieden; a definitive diagnosis includes the presence of a large (20 cm in diameter in the adult) Congenital melanocytic nevi (CMN) or multiple (3) CMN in association with histologic confirmation of leptomeningeal melanocytosis or CNS melanoma; absence of cutaneous melanoma unless there is no evidence of CNS melanoma; and no evidence of meningeal melanoma, unless there is no evidence of cutaneous melanoma.  Most of these are described in children and adult onset is rare however well-described in the literature. ,,
The cutaneous lesions of NCM are dominated by the presence of nevi; Nearly 66% will have giant melanocytic nevi and 33% will have multiple nevi without a single giant lesion. , Most of the nevi present at birth commonly distributed over lumbosacral area. Patients with lesions over posterior midline are at high risk for developing NCM. Lesions can be circumferential with irregular borders and can be flat or raised. 
Neurological manifestations include seizures, hydrocephalus, cranial nerve palsy, hemiparesis and developmental delays with an associated Dandy-Walker malformation in about 10% of cases. Some of these cases can show rapid progression as described by Chu et al. the progression in the present case with spinal dissemination and para/quadriplegia is similar to that described by Chu et al. and Zhang et al. ,
Since diagnostic biopsy can be difficult from posterior fossa CNS lesions; radiology can be of help in picking up the CNS foci. MRI with gadolinium contrast is the investigation of choice. MRI demonstrate meningeal enhancement, typically T 1 and T 2 signal shortening produced by melanin.  Presence of multiple mass lesions and central necrosis can be a feature of malignant transformation, which is seen as increase signal intensity on T2 weighted images.  CNS melanomas occurred in 21 out of 33 patients (64%) with NCM. 
Histopathology examination is essential in establishing a diagnosis of NCM. It is mandatory to characterize the benign versus malignant nature of the CNS and skin lesions to make a definitive diagnosis particularly in adult onset cases.
Some of these lesions are in an intermediate category because these tumors displayed increased mitotic activity and hyper cellularity, but not to the degree that one should categorize them as high-grade lesions. , A study by Brat et al. classified CNS pigmented lesions into low grade and high grade lesions. 
Management of giant nevi is still controversial, some dermatologists advice prophylactic excision of lesion, thereby preventing malignant transformation of which occurs in 5-15% patients. In patients with neurological signs and symptoms outcome is usually poor. Surgery, chemotherapy and radiotherapy proven to be have only little benefit. 
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]