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

We report a newborn with neurocristic cutaneous hamartoma of the scalp. He was delivered at term via caesarean section due to a previous scar and presented at the neonatal unit on the fifth day with giant congenital nevi on the scalp and disseminated melanocytic nevi throughout the body. The MRI scan of the brain showed a defect at the occipital region with herniation of the occipital lobes and ventricles through the defect, with infratentorial brain parenchyma exhibiting normal signal return and intact cerebellum. The initial diagnosis was a giant haemangioma, which has ruptured, and possible cytomegalovirus infection, causing ‘blueberry muffin’ syndrome. On follow-up, the hamartoma/haemangioma-like mass regressed, and a large well-demarcated melanotic patch on scalp and large encephalocele were seen. This infant is now being scheduled for neurosurgical intervention.

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“…Neurocutaneous melanoses are common in giant melanosis and about 12% develop this, as seen in our infant. 3 12 13…”

Section: Discussionmentioning

confidence: 99%

Neurocristic cutaneous hamartoma of the scalp with disseminated melanocytic nevi

et al. 2023

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“…Moreover, diffuse lipomatosis, cranial bone hypertrophy, limb atrophy, skeletal asymmetry, hyperplasia and hypoplasia of soft tissue, scoliosis, urinary tract anomaly, capillary malformation, café au lait spot, Mongolian spot and fibroepithelial polyp have been reported in patients with giant congenital melanocytic nevus previously [1]. In addition, Gorai et al presented a giant congenital melanocytic nevus with occipital encephalocele in a 5-month-old male child in India [3]. Recently, Goyal et al reported a 20-year-old female with a giant congenital nevus presenting as a large vulvar mass [4].…”

Section: Discussionmentioning

confidence: 99%

Giant congenital melanocytic nevus coexisting with an asymmetric posture

Tamer¹,

Yüksel²

2018

Our Dermatol Online

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“…After considering all the circumstances above, the thirteen years old female patient was diagnosed as having Giant congenital melanocytic nevus or Bathing Trunk Nevus. [1][2][3][4][5][6][7][8][9][10][11][12][13][14]…”

Section: Final Diagnosismentioning

confidence: 99%

Giant Congenital Melanocytic Nevus (Bathing Trunk Nevus)- A Case Study

Balachandrudu¹,

Kumar²

2018

jemds

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A thirteen-years-old female child presented to our Dermatology Department, had a large circumferentially pigmented area in front of neck, spread to chest, abdomen to thighs and up to knees as well as same spread to back of body bilaterally, interposed darkened lesions were present. Born by normal delivery to non-consanguineous parents presented with an asymptomatic hyperpigmented encompassing the entire trunk involving chest, back, buttocks and genitalia covering more than 40% of body area present since birth. It has been growing in size with age. The lesions were flat initially and gradually started becoming thicker. Scalp, mucosa, palms, soles and nails were normal. There were no signs of jaundice, haemolysis, meningomyelocele or abnormal hair growth. The rest of the physical examination including cardiovascular, pulmonary and abdominal system and genitourinary functioning was normal. Complete blood picture was within normal range. There was immediate concern of melanoma by Paediatric Dermatology and General Surgery physicians. Magnetic resonance imaging of the lumbar spine and brain revealed no intracranial abnormalities, hydrocephalus or suggestion of meningeal inflammation. Giant congenital melanocytic nevi are rare and occur in about one out of every 2,00,000 to 5,00,000 births. There is a significant association between bathing trunk nevus and neurofibromatosis and lipomatosis. Apart from this association of bathing trunk nevus with abnormalities like spina bifida occulta, meningocoele, club foot and hypertrophy or atrophy of deeper structures of a limb have been described. Biopsy report showed skin with groups of nevoid cells extending into underlying fat, intimately associated with the lobules and surrounding many blood vessels. Pathologic examination revealed benign congenital intradermal nevus without evidence of malignancy. The systemic examination was normal. This is a typical case of giant congenital melanocytic nevus. As the surface area is greater than 50 cm in diameter, the risk of developing melanoma is higher. [1] Congenital melanocytic nevus is a benign neoplasm composed of naevomelanocytes, which occurs in about 1% to 2% of new-borns. Giant congenital melanocytic nevus is a variant of congenital melanocytic nevus, characterised by its extensive size and is defined as melanocytic nevus measuring

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

Cited by 3 publications

References 6 publications

Neurocristic cutaneous hamartoma of the scalp with disseminated melanocytic nevi

Neurocristic cutaneous hamartoma of the scalp with disseminated melanocytic nevi

Giant congenital melanocytic nevus coexisting with an asymmetric posture

Giant Congenital Melanocytic Nevus (Bathing Trunk Nevus)- A Case Study

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