Neurocutaneous melanoma in association with giant congenital melanocytic nevi in a child (Touraine syndrome) – A dermatoradiological correlation

Touraine syndrome or neurocutaneous melanosis/melanoma is a rare melanophakomatosis characterized by extensive/multiple congenital melanocytic nevi associated with cerebral/meningeal melanosis or melanoma. We report a 12-year-old boy with a congenital giant melanocytic nevus on the bathing trunk distribution with scattered lesions on the face, neck, and legs. MRI brain revealed a melanoma in the right amygdala.

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Giant Congenital Melanocytic Nevi and Neurocutaneous Melanosis

Case Reports in Medicine ◽

10.1155/2015/545603 ◽

2015 ◽

Vol 2015 ◽

pp. 1-5 ◽

Cited By ~ 4

Author(s):

Catarina Araújo ◽

Cristina Resende ◽

Francisco Pardal ◽

Celeste Brito

Keyword(s):

Multiorgan Failure ◽

Melanocytic Nevus ◽

Congenital Melanocytic Nevus ◽

Cerebral Magnetic Resonance Imaging ◽

Neurocutaneous Melanosis ◽

Melanocytic Nevi ◽

Giant Congenital Melanocytic Nevi ◽

Congenital Melanocytic Nevi ◽

Leptomeningeal Infiltration ◽

Expansive Lesion

Introduction. The major medical concern with giant congenital melanocytic nevi CMN is high risk of developing cutaneous melanoma, leptomeningeal melanoma, and neurocutaneous melanocytosis.Case Report. A 30-year-old woman with a giant congenital melanocytic nevus covering nearly the entire right thoracodorsal region and multiple disseminated melanocytic nevi presented with neurological symptoms. Cerebral magnetic resonance imaging revealed a large expansive lesion in the left frontal region. Postsurgically pathological diagnosis revealed characteristics of melanoma. Immunohistochemical examination showed S100(+), HMB45(+), MelanA(+), and MiTF(+). She received radiotherapy with temozolomide followed by two more chemotherapy cycles with temozolomide. She followed a rapidly progressive course, reflecting widespread leptomeningeal infiltration, and she died of multiorgan failure seven months after diagnosis of cerebral melanoma.Discussion. This patient was diagnosed as having a neurocutaneous melanosis with malignant widespread leptomeningeal infiltration. Diffuse spinal involvement is unusual and is described in only another patient.

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Congenital Melanocytic Hairy Nevi in a Child from North-Western Nigeria

Asian Journal of Medicine and Health ◽

10.9734/ajmah/2020/v18i730221 ◽

2020 ◽

pp. 28-34

Author(s):

Fatima Bello Jiya ◽

Maryam Amodu- Sanni ◽

Nma Muhammed Jiya ◽

Dada Muhammed Aquib ◽

Muhammed Umar ◽

...

Keyword(s):

Melanocytic Nevus ◽

Temporal Region ◽

Healthy Children ◽

Congenital Melanocytic Nevus ◽

Melanocytic Nevi ◽

Lower Back ◽

The Face ◽

Congenital Melanocytic Nevi ◽

North Western ◽

Apparently Healthy

Aim: To present the first report of a large congenital melanocytic nevus with satellite nevi in an apparently healthy child from Sokoto, North-Western Nigeria. Presentation of Case: A three year old girl was brought to the paediatric out-patient clinic of Paediatrics department of Usmanu Danfodiyo University Teaching Hospital (UDUTH) Sokoto with complaints of darkened skin colour on the left side of the face and scalp, the left arm, lower back, buttocks, and thighs, and excessive hair growth over the same side of the face since birth. There were no neurological symptoms Physical examination findings revealed a well-nourished, not ill looking child. She had a hyper pigmented patch on the left side of the face extending from the lower jaw to the scalp, measuring 21 cm in its longest length, with hypertrichosis on the same site, and two distinct, firm, painless nodular lesions on the left temporal region measuring 3 mm and 4mm respectively. On the lower one-third of the left arm was a hairy, velvety area of hyperpigmentation measuring 2X3 cm in diameter. Other affected sites were the lower back, the gluteal region and the thighs. Her neurologic and other systemic examinations were normal. A diagnosis of large congenital facial melanocytic hairy nevus with multiple satellite nevi was made. Discussion: Congenital melanocytic nevi are benign proliferations of melanocytic cells said to be present at birth or in the first two years of life. Large lesions are rare, they measure 20 cm or more and are said to occur more commonly on the trunk and thighs. The exact pathogenesis of congenital melanocytic nevi is yet, unknown. It is thought to occur as a result of a morphological error in the neuroectoderm during embryogenesis. Treatment of patients with large congenital melanocytic nevus may include surgical or non-surgical procedures as well as psychological interventions. Large lesions, multiple satellite lesions or paravertebral and axial locations are sometimes associated with the risk of neurological complications and malignant transformation. Conclusion: Large congenital melanocytic nevi are uncommon skin lesions that can occur in apparently healthy children. Individualization of the patients with regards to treatment options and long term monitoring are imperative.

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Multiple giant congenital nevi – a case report / Multipli gigantski kongenitalni nevusi – prikaz slučaja

Serbian Journal of Dermatology and Venerology ◽

10.2478/v10249-011-0039-3 ◽

2011 ◽

Vol 3 (2) ◽

pp. 69-76

Author(s):

Vesna Mikulić

Keyword(s):

Body Surface ◽

Psychosocial Problems ◽

The Body ◽

Skin Tumor ◽

Whole Body ◽

Neurocutaneous Melanosis ◽

Melanocytic Nevi ◽

Increased Risk ◽

Giant Congenital Melanocytic Nevi ◽

Congenital Melanocytic Nevi

Abstract Giant congenital melanocytic nevi are benign nevomelanocytic proliferations of 20 cm or more in diameter, present at birth. They are primarily found on the posterior trunk, but they may arise on any other part of the body, covering more than 2% of the body surface. Giant congenital nevi are major risk factors for the development of melanoma, and the risk has been estimated to be as high as 5-7%. Persons with giant congenital melanocytic nevi on the head, neck and along the midline of the back are at increased risk for leptomeningeal melanocytic lesions. Most patients with neurocutaneous melanosis present with neurologic manifestations of the disease in the first 2 years of life. Melanoma occurs in 62-80% of cases, but even without neoplasms, symptomatic neurocutaneous melanosis has a poor prognosis. This is a report of a 23-year-old female patient who presented with multiple congenital pigmented and pilous nevi covering over 2% of her total body surface, without malignant alterations or association with other abnormalities. At birth, a nevus covered her neck, shoulders and the upper left arm, whereas several nevi over 5cm in diameter were present in the gluteal region, on the abdomen and legs. During the first 2 years of life, the existing nevi increased in size and progressed into darker brown. New, smaller pigmented changes appeared on the whole body and the face, while at the age of 17 they reached their current size and layout. At puberty, nevi over 10cm in size grew dark hairs. There were neither melanoma nor skin tumor cases in the family. Nuclear magnetic resonance imaging was not performed in the childhood or later in life, but other parameters - neurologic and ophthalmologic findings were in normal range all the time, as was growth and development. A complete photo-documentation was made, including macroscopic and dermoscopic images and regular follow-ups continue. Giant congenital melanocytic nevi may cause considerable esthetic and psychosocial problems. Due to their high malignant potential, association with other abnormalities, no consensus on the treatment, and monitoring problems, giant congenital melanocytic nevi represent a therapeutic problem as well.

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Neurocutaneous Melanosis with Giant Congenital Melanocytic Nevi

Journal of Pediatric Neurology ◽

10.1055/s-0036-1579628 ◽

2016 ◽

Vol 14 (01) ◽

pp. 047-050

Author(s):

Shaukat Ali ◽

Saifullah Khalid ◽

Kashif Azmi ◽

Murad Ahmad ◽

Shaad Abqari

Keyword(s):

Neurocutaneous Melanosis ◽

Melanocytic Nevi ◽

Giant Congenital Melanocytic Nevi ◽

Congenital Melanocytic Nevi

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Giant Congenital Melanocytic Nevi, Neurocutaneous Melanosis and Neurological Alterations

Dermatology ◽

10.1159/000245713 ◽

1997 ◽

Vol 195 (2) ◽

pp. 125-128 ◽

Cited By ~ 44

Author(s):

R. Ruiz-Maldonado ◽

M. del Rosario Barona-Mazuera ◽

L.R. Hidalgo-Galván ◽

V. Medina-Crespo ◽

C. Duràn-Mckinster ◽

...

Keyword(s):

Neurocutaneous Melanosis ◽

Melanocytic Nevi ◽

Giant Congenital Melanocytic Nevi ◽

Neurological Alterations ◽

Congenital Melanocytic Nevi

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Combination of preoperative embolization and surgery in the treatment of a giant congenital neuroid nevus of the forehead and scalp in a child

Journal of Neurosurgery Pediatrics ◽

10.3171/2008.11.peds08146 ◽

2009 ◽

Vol 3 (3) ◽

pp. 215-219

Author(s):

Alexander Margulis ◽

Benjamin Z. Koplewitz ◽

Alexander Maly ◽

José Cohen ◽

Ravit Yanko-Arzi ◽

...

Keyword(s):

Male Infant ◽

Large Mass ◽

Melanocytic Nevus ◽

Preoperative Embolization ◽

Congenital Melanocytic Nevus ◽

Complete Excision ◽

Melanocytic Nevi ◽

Giant Congenital Melanocytic Nevi ◽

Congenital Melanocytic Nevi ◽

Staged Reconstruction

Congenital melanocytic nevi of neuroectodermal origin are composed primarily of melanocytes and occasional neural elements. A subset of large/giant congenital melanocytic nevi is characterized by neuroidal differentiation resembling the histological pattern of neurofibroma (neuroid congenital melanocytic nevi). The authors report the case of a male infant born with a neuroid congenital melanocytic nevus presenting as a large mass covering extensive portions of his scalp and forehead. The atypical feeding arteries to the nevus were larger in diameter then the patient's internal carotid arteries and formed a rich network of large blood vessels in the nevus. Selective preoperative embolization using calibrated particles was followed by a complete excision and staged reconstruction with tissue expanders. The authors believe that this multidisciplinary approach allowed for a safe surgical procedure with minimal blood loss for this most unusual pediatric head and neck tumor.

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Late Onset Achromatic Melanoma Arising in a Giant Congenital Melanocytic Nevus

Open Access Macedonian Journal of Medical Sciences ◽

10.3889/oamjms.2017.077 ◽

2017 ◽

Vol 5 (4) ◽

pp. 533-534 ◽

Cited By ~ 1

Author(s):

Georgi Tchernev ◽

James W. Patterson ◽

Ilko Bakardzhiev ◽

Torello Lotti ◽

Jacopo Lotti ◽

...

Keyword(s):

Late Onset ◽

Surgical Excision ◽

Melanocytic Nevus ◽

Secondary Development ◽

Surgical Removal ◽

Congenital Melanocytic Nevus ◽

Melanocytic Nevi ◽

Giant Congenital Melanocytic Nevi ◽

Congenital Melanocytic Nevi ◽

Giant Congenital Melanocytic Nevus

A 61-year-old woman, with a lifelong history of a giant congenital melanocytic nevus in the occipital region with secondary development of giant melanoma is presented. Surgical excision was performed, and the histopathological evaluation confirmed the diagnosis of Giant Malignant Melanoma (GMM) with a maximum tumour thickness of 16 mm. Nowadays, there is tremendous uncertainty regarding how giant congenital melanocytic nevi (GCMN) should be treated. The standard approach to patients with late onset giant congenital melanocytic nevi (GCMN is based on two main considerations: (1) obtain an acceptable cosmetic results with the purpose to decrease the psychosocial inconvenience to each patient, and (2) to attempt to minimise the risk of development of malignant transformation. Unfortunately complete surgical removal of the GCMN is usually difficult and very often impossible without subsequent functional or cosmetic mutilations.

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Giant congenital melanocytic nevus: a rare case report

International Journal of Contemporary Pediatrics ◽

10.18203/2349-3291.ijcp20204407 ◽

2020 ◽

Vol 7 (11) ◽

pp. 2236

Author(s):

Arty Tyagi ◽

Bipin Kumar ◽

Mani Kant Kumar

Keyword(s):

Rare Case ◽

Melanocytic Nevus ◽

Melanocytic Lesion ◽

Congenital Melanocytic Nevus ◽

Melanocytic Nevi ◽

Rare Case Report ◽

Giant Congenital Melanocytic Nevi ◽

Magnetic Resonance Imaging Mri ◽

Congenital Melanocytic Nevi ◽

Giant Congenital Melanocytic Nevus

Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present a birth. Its incidence is estimated in <1 in 20,000 newborns. Despite its rarity, this lesion is important because it may be associate with severe complications such as malignant melanoma and may also cause neurological deficit including neurocutaneous melanocytosis. Giant congenital melanocytic nevus generally present as a brown lesion with flat or mammilated surface, well-demarcated borders and hypertrichiosis. Congenital melanocytic nevus is primarily a clinical diagnosis. Recently, we encountered a 3 day old baby girl in whom giant congenital melanocytic nevi was noted at birth. She presented with large nevus over posterior trunk, head and extremities. Magnetic resonance imaging (MRI) brain was normal. Parents were counselled regarding possible future course and were asked to be in regular follow-up. Here, we report this rare case with giant congenital melanocytic nevi.

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Giant Congenital Melanocytic Nevi: An Update and Emerging Therapies

Case Reports in Dermatology ◽

10.1159/000487002 ◽

2018 ◽

Vol 10 (1) ◽

pp. 24-28 ◽

Cited By ~ 3

Author(s):

Girish Gulab Meshram ◽

Neeraj Kaur ◽

Kanwaljeet Singh Hura

Keyword(s):

Hydrostatic Pressure ◽

Malignant Melanoma ◽

Rare Occurrence ◽

Review Of The Literature ◽

Neurocutaneous Melanosis ◽

Melanocytic Nevi ◽

Emerging Therapies ◽

Giant Congenital Melanocytic Nevi ◽

Congenital Melanocytic Nevi

Giant congenital melanocytic nevi (GCMN) are a rare occurrence. Gain-of-function mutation in the NRAS gene is found to be associated with GCMN, causing abnormal proliferation of embryonic melanoblasts. The two major complications associated with GCMN are malignant melanoma and neurocutaneous melanosis. Treatment of GCMN has conventionally been surgical. However, the role of NRAS inhibitors and inactivation of nevus tissue by high hydrostatic pressure are being explored. We present a case of a 1-day-old neonate born with GCMN, along with a review of the literature.

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