Indian Journal of Dermatology
: 2016  |  Volume : 61  |  Issue : 2  |  Page : 224--226

Giant congenital melanocytic nevus with occipital encephalocele: A very rare association

Surajit Gorai, Mahimanjan Saha, Joly Seth 
 Department of Dermatology, Burdwan Medical College and Hospital, Burdwan, West Bengal, India

Correspondence Address:
Surajit Gorai
Department of Dermatology, Burdwan Medical College and Hospital, Burdwan, West Bengal

How to cite this article:
Gorai S, Saha M, Seth J. Giant congenital melanocytic nevus with occipital encephalocele: A very rare association.Indian J Dermatol 2016;61:224-226

How to cite this URL:
Gorai S, Saha M, Seth J. Giant congenital melanocytic nevus with occipital encephalocele: A very rare association. Indian J Dermatol [serial online] 2016 [cited 2022 Aug 8 ];61:224-226
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Giant congenital melanocytic nevus (GCMN) is a rare disorder affecting 1 in 200,000–500,000 live births.[1] It is regarded as giant when it involves more than 20 cm in greatest dimension or >9 cm in the scalp or more than 6 cm in the trunk.[2] In about 82% cases, the disease is axially distributed. Central nervous system (CNS) defects such as spina bifida, meningocele, Dandy Walker malformation may accompany it and thus cause significant morbidity.[3] There is an increased risk of malignancy ranging from 4.5% to 12%. Here, we report a case of a GCMN with some unusual associations.

A 5-month-old male child with uneventful ante and postnatal history presented with an extensive pigmented growth involving the scalp, left side of the face, neck, upper trunk, and left shoulder with multiple satellite lesions. Many neurofibroma (NF) like-nodules were present over chin, left ear, cheek, nose, and anterior chest. Multiple lentiginous lesions were scattered over a less pigmented background. A large, soft, pigmented growth was also present over the occipital region just left to the midline [Figure 1]. The swelling was nontender, nonpulsatile, fluctuant & transilluminant with a broad base [Figure 2]. Developmental milestones were not delayed and neither there was any neuro-deficit. Three biopsies were done; one from scalp mass, the second one from melanocytic plaque of anterior chest, and the third one from nodules over the melanocytic plaque. All lesions revealed nevus cells forming nests in the dermo-epidermal junction, upper and mid-dermis, and around the hair bulb. Cells were homogenous without nuclear atypia. There was no pleomorphism, mitoses, or pagetoid spreading into the epidermis [Figure 3]. All of these histological features were consistent with CMN without any evidence of malignant transformation.{Figure 1}{Figure 2}{Figure 3}

A computerized tomography (CT) scan of the large scalp mass demonstrated an encephalocele with evidence of herniation of very thin looking redundant brain tissue into the sac. CT scan image also revealed a significant defect of the occipital bone. We have diagnosed it as an encephalocele covered with a plaque of melanocytic nevus, associated with brain tissue herniation. NF like nodules was confirmed as melanocytic nodule with neurotization. Encephalocele, where the cranium fails to fuse is same as that of spina bifida. Through this defect meninges herniates with or without brain tissue. In encephalocele, CNS structures lie in communication with cerebrospinal fluid pathways.

There are reports of bathing trunk nevus in association with NF type 1, but many cases too had melanocytic nevus with neurotization as in our case. Twenty-six such associations were reported by Heuer [4] Silfen et al., in 2002. Clinical and histopathological similarities between CMN and NF is probably due to common origin of melanocytes and Schwann cell from the neural crest.[5] The term neurotization refers to the resemblance of some melanocytic cells to peripheral nerve sheath cells.

In spite of an extensive search in popular online archives, we found only single case report of GCMN with encephalocele by Shermak et al., from Baltimore.[6] Probably no such association has been reported before from India.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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1Bhagwat PV, Tophakhane RS, Shashikumar BM, Noronha TM, Naidu V. Giant congenital melanocytic nevus (bathing trunk nevus) associated with lipoma and neurofibroma: Report of two cases. Indian J Dermatol Venereol Leprol 2009;75:495-8.
2Imchen S, Ghosh S, Dayal S, Marwah N, Jindal N, Sangal S. Giant congenital melanocytic nevus with developmental dysplasia of bilateral hip: A rare association. Indian J Dermatol 2013;58:475-7.
3Ansarin H, Soltani-Arabshahi R, Mehregan D, Shayanfar N, Soltanzadeh P. Giant congenital melanocytic nevus with neurofibroma-like changes and spina bifida occulta. Int J Dermatol 2006;45:1347-50.
4Heuer S. Ein Fall von ausgedehntem schimmohsenartigem naevus pigmentosus pilosus congenitus mit Hamartom des Ruckens und spina bifida occulta: Seine beziehung zur V Recklinghausen's Schen Krankheit. Bruns Beitr Klin Chir 1917;104:388.
5Silfen R, Skoll PJ, Hudson DA. Congenital giant hairy nevi and neurofibromatosis: The significance of their common origin. Plast Reconstr Surg 2002;110:1364-5.
6Shermak MA, Perlman EJ, Carson BS, Dufresne CR. Giant congenital nevocellular nevus overlying an encephalocele. J Craniofac Surg 1996;7:376-83.