Giant Congenital Melanocytic Naevi Research Articles

Giant Congenital Melanocytic Naevi in Newborns: A Case Series

Giant Congenital Melanocytic Naevi (GCMN) is a very rare condition that mostly occurs due to an oncogenic mutation involving the NRAS (neuroblastoma RAS viral oncogene homologue) gene. GCMNs can be clinically diagnosed due to their typical features, but histopathology confirms the diagnosis. GCMN has a high propensity for transforming into malignant melanoma and leptomeningeal melanocytosis, leading to neurological deficits such as epilepsy and neurofibromatosis. As it is associated with Central Nervous System (CNS) melanosis, Magnetic Resonance Imaging (MRI) of the brain and spine is crucial. Here, three cases are reported of the babies born with GCMN from August 2022 to July 2023 in a tertiary care hospital among a total of 11,915 live births, where the incidence is much higher than found in the literature. Present series describes three cases with GCMN, including clinical features, MRI findings, short-term outcomes, risk factors, and modalities of the management. All three cases showed extensive blackish pigmented patches involving most of the body surface and MRI evidence of Neurocutaneous Melanosis (NCM). The third baby succumbed to death due to fulminant sepsis on day 2 of life. Management of GCMN requires a multimodal approach, including medical, surgical, chemotherapeutic, palliative, and psychological support for patients as well as parents, and follow-up is necessary for the early detection of malignant transformation. Detailed knowledge of this very rare condition may enable us to develop newer treatment modalities to achieve better outcomes in the near future.

Rapid Melanoma Death of an Adult Male with Congenital Bathing Trunk Nevus despite Initiation of Combination Immunotherapy

Dear Editors: Giant congenital melanocytic naevus (GCMN)-associated melanoma in adults is very rare [...]

Giant congenital melanocytic naevus caused by NRAS Q61K mosaicism

AbstractGiant congenital melanocytic naevi (CMN) are large melanocytic lesions commonly associated with neurologic abnormalities. Patients diagnosed with giant melanocytic naevi are at an increased risk of developing melanoma compared to patients with smaller congenital naevi. If patients develop central nervous system (CNS) lesions and exhibit certain characteristic facial features, then the diagnosis of CMN syndrome can be made. We here present the case of a 24‐year‐old female who presented with multiple melanocytic naevi, which had been apparent since birth, and was diagnosed with giant melanocytic naevi caused by NRAS Q61K mosaicism. Both close follow‐up of imaging and clinical study is important so as not to miss cutaneous malignancy and CNS lesions.

Bathing trunk naevus

Giant congenital melanocytic naevus is a naevus measuring more than 20 cm in adulthood. Its incidence is 1:20,000 and is more common in girls. Bathing trunk naevus, a specific form of giant congenital melanocytic naevus is even rarer with incidence of 1:500,000. Giant congenital melanocytic naevus usually presents as a brown lesion, with flat or mamillated surface, well-defined borders and hypertrichosis. Dermoscopic examination of melanocytic naevi shows brown-blackish background, globules, reticular network and vascular structures. Although giant congenital melanocytic naevus is often diagnosed clinically, dermoscopy aids in detecting early changes of complications such as malignant melanoma. We report a case of bathing trunk naevus with multiple satellite lesions in a brown child with dermoscopic findings.

Development of an international core domain set for medium, large and giant congenital melanocytic naevi as a first step towards a core outcome set for clinical practice and research.

Medium, large and giant congenital melanocytic naevi (CMN) can impose a psychosocial burden on patients and families, and are associated with increased risk of developing melanoma or neurological symptoms. Lack of consensus on what outcomes to measure makes it difficult to advise patients and families about treatment and to set up best practice for CMN. Fostering consensus among patient representatives and professionals, we aim to develop a core outcome set, defined as the minimum set of outcomes to measure and report in care and all clinical trials of a specific health condition. We focused on the 'what to measure' aspect, the so-called core domain set (CDS), following the COMET and CS-COUSIN guidelines. We conducted a systematic review to identify outcomes reported in the literature. Focus groups with patient representatives identified patient-reported outcomes. All these outcomes were classified into domains. Through e-Delphi surveys, 144 stakeholders from 27 countries iteratively rated the importance of domains and outcomes. An online consensus meeting attended by seven patient representatives and seven professionals finalized the CDS. We reached consensus on six domains, four of which were applied to both care and research: 'quality of life', 'neoplasms', 'nervous system' and 'anatomy of skin'. 'Adverse events' was specific to care and 'pathology' to research. We have developed a CDS for medium-to-giant CMN. Its application in reporting care and research of CMN will facilitate treatment comparisons. The next step will be to reach consensus on the specific outcomes for each of the domains and what instruments should be used to measure these domains and outcomes.

A Multi-Method Assessment in Adolescent and Adult Females with Giant Congenital Melanocytic Naevus and their Families: Body Image and Psychological Adjustment

Background: Giant Congenital Melanocytic Naevus (GCMN) is a morphological skin alteration present from birth, involving up to 80% of the body surface. GCMN could have a detrimental effect on body perception due to several factors including its aspect, extension and the potential exposure to significant number of surgical interventions. Objective: This pilot study assessed quality of Body Image (BI) and psychological adjustment in subjects with GCMN and their parents. Methods: Subjects and parents underwent a multi-method assessment including a semi-structured interview, a self-administered rating scale to assess BI (Body Uneasiness Test, BUT) and two personality tests: A self-report (MMPI-2RF/A) and a performance test (Rorschach, R-PAS method). Results: Ten families were enrolled in the study. GCMN subjects were all females with high average surgical interventions (median=13). In GCMNs a substantial impairment of BI was detected by the BUT (global severity index=2.34 ± 0.81; Body Image Concern=3.25 ± 0.95), MMPI-2RF/A presented normal ranges and R-PAS showed elevations for the quality of human representations (PHR/GPHR: 119.1 ± 8.1). Mothers showed a trend for health concerns at MMPI-2RF (Malaise: 64.2 ± 9.5), fathers showed under-reporting in almost all tests. Conclusion: This set of GCMN females with relevant surgical history shows significant BI impairment with several aspects of non-integrated body identity at unconscious level, that may result in inability to envision the self and relations with others in adaptive way. Parents show different profiles, including conscious health concerns in mothers and denial in fathers. Families with a GCMN subject could benefit from integrated approaches including medical advice, psychological support and social integration projects.

‘Doctor, why is my baby’s arm black?’ The neonatal presentation of a Giant Congenital Melanocytic Naevus

A baby boy presented at birth with a large uniform, dark blue hypertrophic skin lesion on the right arm. The lesion was circumferential extending from the ventral aspect of the...

Laser treatment of congenital melanocytic naevi: a systematic review.

Recent studies on congenital melanocytic naevi (CMN) indicate a lower risk of melanoma than has been previously assumed. As a result, the treatment paradigm in CMN has shifted from complete removal to cosmetically acceptable, less invasive treatment options, such as laser treatment. Our objective was to review systematically the efficacy and safety of laser therapy for CMN. We searched MEDLINE, Embase, the Cochrane Central Register of Controlled Trials and PubMed. We rated the quality of evidence with the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. Twenty-four eligible studies (three nonrandomized controlled studies; 21 case series) with 434 patients were included; the majority were of poor quality). Twenty different laser modalities or combinations were evaluated. Overall, the Q-switched laser was used most frequently, although large or giant CMN were generally treated with an ablative laser. Owing to heterogeneity between studies, comparison between laser modalities was hampered and statistical analysis was precluded. Lasers in CMN showed rather good results (albeit with very low-quality evidence) for clearing of hyperpigmentation in the short term. Outcome measures varied widely, patient satisfaction was rarely measured and high incidences of scarring, repigmentation and complications were reported. No malignant change was seen. While most studies report short-term improvement of CMN after laser therapy, there is no high-quality evidence for the efficacy and safety of laser modalities in CMN in the long term. Future research should focus on well-conducted and well-reported prospective studies on different laser modalities for CMN, with the use of recognized and validated outcome measures.

Giant congenital melanocytic nevus - Reconstruction using multiple modalities: A case report

<p>Congenital melanocytic naevi are neuroectodermal lesions that are mainly composed of melanocytes. They are present in 1% to 6% of all newborns. These lesions carry the risk of transforming into melanomas; however, the psychological effect of such disfiguring naevi is potentially of greater concern to both the child and parent. Several classifications for congenital melanocytic naevi have been proposed, the most common of which is the sub-classification according to their size as this affects the choice of treatment. Many treatment modalities have been utilized including surgical excision followed by reconstruction, curettage, dermabrasion, laser therapy and chemical peels. In this report, we present a case of an otherwise healthy eight-year-old girl with a giant congenital melanocytic naevus on the central face. The lesion was mostly excised with remaining satellite lesions dermabraded. The defect was then reconstructed with a full thickness skin graft harvested from the expanded supraclavicular skin, in addition to the ReCell (non-cultured epithelial autograft) technique. Within six months post-operation, excellent skin pigmentation and texture was achieved.</p>

Neurofibromatatosis Type 1 in Association with Giant Congenital Melanocytic Naevus and Vitiligo

Neurofibromatatosis Type 1 in Association with Giant Congenital Melanocytic Naevus and Vitiligo

Vitiligo developing within congenital melanocytic nevus

Development of vitiligo or halo naevus within or around congenital melanocytic naevus (CMN) is a rare phenomenon. Very few cases on regression of CMN after the onset of halo naevus or vitiligo were reported in the literature. We hereby report a case of 25 yr old female who presented with giant CMN since birth and development of vitiligo lesions within the CMN for the past 5yrs which is gradually progressing and showing regression of CMN.

Giant Congenital Melanocytic Naevus with Proliferative Nodules Mimicking Congenital Malignant Melanoma: A Case Report and Review of the Literature of Congenital Melanoma

Congenital malignant melanoma (CMM) is a rare condition that is defined as malignant melanoma recognized at birth. CMM may develop in utero in one of three ways: (1) transmission by metastasis through the placenta from a mother with melanoma; (2) primary melanoma arising within a giant congenital melanocytic naevus (GCMN); (3) primary de novo cutaneous CMM arising in utero. CMM can be confused clinically and histologically with benign proliferative melanocytic lesions such as giant congenital nevi. We describe the case of a patient presenting a GCMN with proliferative nodules, clinically and dermoscopically resembling a CMM, demonstrating the importance of caution in making a diagnosis of MM and highlighting the possibility that benign lesions as GCMN can mimic a malignant melanoma in this age group.

Case report of giant congenital melanocytic naevus

This is a case of giant congenital melanocytic nevus, associated with a single lipoma & multiple satellite lesions. Biopsy report showed skin with groups of nevoid cells extending into underlying fat, intimately associated with the lobules & surrounding many blood vessels. The systemic examination was normal. This is a typical case of a giant congenital melanocytic nevus with satellite lesions and a lipoma association. As the surface area is greater than 40cm in diameter; the risk of developing melanoma is higher.

Effectiveness of combined pulsed dye and Q-switched ruby laser treatment for large to giant congenital melanocytic naevi

There is no consensus on the most appropriate treatment for patients with large to giant congenital melanocytic naevi (CMN) because of the risk of melanoma development. Surgical excision followed by skin grafting or expanded skin coverage may cause unfavourable scarring. There is a balance to be achieved between minimizing the disfiguring appearance and the risk of malignant change. The pulsed dye laser (PDL) is commonly used for vascular lesions and is highly absorbed by melanin and haemoglobin. Its pulse duration is longer than that of Q-switched ruby lasers (QsRL), which can have nonspecific photothermolytic effects on surrounding nonpigmented naevus cells. To investigate the effectiveness of combined treatment with the PDL and QsRL for large to giant CMN. Six patients with large to giant CMN were enrolled in this study. Treatment consisted of one pass of PDL treatment followed by one pass of QsRL treatment. Multiple rounds of treatment were applied to all patients. All patients responded to this combined regimen, and the lesional colour was effectively reduced. The mean number of rounds of laser treatment required to achieve skin lightening was 7·7. No patients suffered severe hypertrophic scarring. No cases of recurrence or malignant transformation were observed. The histological results from the patient who underwent the most laser therapy in this study showed a remarkable reduction in the number of melanocytic naevus cells after treatment. This technique may enable the removal of most of the pigmented lesion and melanocytic naevus cells with minimal scarring.

Giant Congenital Melanocytic Naevi: review of literature

Giant congenital pigmented naevi is a great reconstructive challenge for the pediatric and plastic surgeons. Due to the increased risk of malignant transformation in such lesions, many procedures have been used to remove giant congenital naevi like dermoabrasion, laser treatment or surgical excision combined with reconstruction through skin expansion or skin grafting; among these, only a complete excision can offer an efficacious treatment. In our centre we use the "tissue expansion" technique in order to achieve a sufficient quantity of normal skin to perform a both staged and radical excision of these giant lesions.

Proliferative Nodule in Small Congenital Melanocytic Naevus After Childhood

© 2012 The Authors. doi: 10.2340/00015555-1186 Journal Compilation © 2012 Acta Dermato-Venereologica. ISSN 0001-5555 Congenital melanocytic naevi (CMNs) are divided into giant, medium-sized, and small types. Giant CMN measures more than 20 cm in maximal diameter, whereas small CMN measures less than 1.5 cm (1). The lifetime incidence of melanoma in giant CMN is estimated to be between 6.3% (2) and 12% (1). Since the prognosis is poor (3), it is generally agreed that it would be desirable for giant CMN to be excised whenever possible. Melanomas arising from giant CMN are apt to occur before puberty and are occasionally of dermal origin (4). Although the incidence of melanoma in medium-sized CMN is probably greater than that in a comparable area of normal skin, it is supposed that melanomas rarely arise from small CMN (4, 5). Some authors insist that the risk is related to lesion size (6), while other investigators disagree (4). The excision of small and medium-sized CMNs when feasible is advised by many authors (7, 8), although not all (1,5). Melanomas arising from small and medium-sized CMNs are apt to occur after puberty, to be located at the margin of the naevi, and to be exclusively of epidermal origin (4).

Melanoma in a 5-year-old Child with a Giant Congenital Melanocytic Naevus

Melanoma, which is a rare neoplasm in the paediatric age-group, represents 1–3% of malignancies in children.We describe here a 5-year-old child with a giant con -genital melanocytic naevus (GCMN) who developed a malignant melanoma with rapid progression, metastases and death. This case emphasizes strongly the importance of an accurate and complete body inspection during the follow-up of children with GCMN and its preventive early surgical treatment.Case reporT

Rapidly Involuting Congenital Melanocytic Naevi in Two Children

Congenital melanocytic naevi (CMN) are considered to be neural crest-derived hamartomas, which are visible at, or shortly after, birth as pigmented tumours (1). The incidence of any size of CMN of neonates ranges from 0.2 to 2.1% (2, 3). They are categorized according to the maximum diameter that the naevus will achieve; small ( 10–20 cm) and giant (> 20 cm) (4). In addition to the cosmetic concern, CMN pose several problems, such as neurocutaneous melanosis, and risk of malignant transformation (5, 6). In a systematic review the risk of melanoma in CMN was estimated to be 0.7%, with a higher risk of malignant transformation occurring during childhood and adoles-cence for giant CMN (2, 7, 8). CMN have a dynamic course and may change over time. They can increase in size during childhood, be-come darker in colour, become hairy, or show pigmen -tary regression (9). Spontaneous involution is a rare phenomenon with few cases described in the literature and, when it occurs, it is often associated with a hypo- or de-pigmented halo (6, 9, 10). We report here 2 cases of spontaneous rapid involution without the halo pheno-menon, in medium to large CMN in 2 children referred to the Karolinska University Hospital.CASE REPORTS

Clinical characteristics and risk of melanoma development from giant congenital melanocytic naevi in Korea: a nationwide retrospective study

Giant congenital melanocytic naevi (GCMN) are known risk factors for the development of melanoma. However, melanoma risk among Asians is rarely evaluated. To evaluate the clinical characteristics and risk of melanoma development from GCMN in Koreans, we performed a nationwide retrospective cohort study in Korea. GCMN were defined as those comprising ≥5% body surface area in children or measuring ≥20cm in adults. In total, 131 patients with GCMN were enrolled, with a mean age of 10·3years (range: birth-70years). The posterior trunk was the most common site (67, 51·1%), followed by lateral trunk, anterior trunk, legs, both anterior and posterior trunk, buttocks, and arms. Satellite naevi were present in 69 cases (52·7%), and axial areas were more commonly involved in patients with satellite naevi than in those without satellite lesions. Atypical features such as rete ridge elongation and bridges were seen, and, among these, pagetoid spread and ballooning cell changes were more common in patients <4years old. Proliferative nodules were found in three cases. Melanomas had developed in three of 131 patients (2·3%; a 6-year-old girl, a 14-year-old girl and a 70-year-old man), and the incidence rate was 990 per 100000 person-years. Melanomas in these three patients consisted of two cutaneous melanomas and one extracutaneous meningeal melanoma. We should be aware of melanoma development from GCMN, and lifelong follow-up is required due to the risk of melanoma arising in GCMN.

Results of the early use of tissue expansion for giant congenital melanocytic naevi on the scalp and face

Results of the early use of tissue expansion for giant congenital melanocytic naevi on the scalp and face