Congenital Nevi Research Articles

Abstract 2014: Mosaic BRAF fusions are a recurrent cause of multiple congenital melanocytic naevi

Abstract Congenital melanocytic naevi (CMN) are moles present at birth, and when multiple or very extensive can involve other organ systems as well as predisposing to melanoma. Some CMN patients develop a highly proliferative multinodular phenotype leading to chronic intense pruritus, and the causes for that specific phenotype progression are poorly understood. Genotypically CMN are mosaic single gene disorders. Thus far only two recurrent variants have been described as clearly causative: NRAS missense variants affecting codon 61 accounting for 68% of cases, and BRAF missense variants affecting codon 600 accounting for 7% of cases. Small numbers of cases of CMN have been reported to carry gene-fusions, and in 2 cases in the world literature (one BRAF-fusion and one RAF1-fusion) these have been shown to be clonal and therefore likely causal. We sought to address the issue of causation of the remaining 25%. From an initial large cohort study, skin biopsies from 19 patients were shown to be double wildtype for NRAS/BRAF and had sufficient tissue for further study after deep whole exome sequencing. These 19 samples then underwent transcriptome-wide paired-end RNA sequencing with bioinformatics analysis (STAR-Fusion v1.6 and Fusion Inspector v2.3) for gene fusion transcripts. 11/19 patients were found to have BRAFgene fusions, of which 7 had the multinodular proliferative phenotype. Fusions were confirmed on Sanger sequencing of the cDNA across the fusion junction, specifically demonstrated in 8 children from more than one separate skin lesion, confirming clonality. In the fusions identified, BRAF was fused to 11 different partner genes (GOLGA4, QKI, STRN3, AGAP3, MKRN2, PHIP, LCA5, EEA1, AKAP9, SEC31A, MIER3). This resulted in loss of the 5’ regulatory domain of BRAF but preservation of the kinase domain, such that expression was driven by the 5’ fusion partner. This structure follows the pattern of somatic BRAF-fusions reported previously in solid tumors including melanoma. Potential dimerization domains in the partner genes were identified in 9 cases. We identify here mosaic BRAF fusions as a recurrent cause of multiple CMN allowing genetic diagnosis in a further 15% of cases and linking this genotype to a highly proliferative pruritic phenotype. In vitro data from melanoma cell lines have suggested that higher expression levels of the fusion protein as well as dimerization domains in the partner gene correlate with resistance and/or paradoxical MAP-kinase activation after treatment with RAF and MEK inhibitors. This may have implications for the use of targeted therapies for attempted reduction of the nodular phenotype, or where melanoma arises in CMN patients caused by mosaic BRAF-fusions. Citation Format: Sara Barberan Martin, Satyamaanasa Polubothu, Alicia Bruzos, Neil Bulstrode, Gavin Kelly, Veronica Kinsler. Mosaic BRAF fusions are a recurrent cause of multiple congenital melanocytic naevi [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2022; 2022 Apr 8-13. Philadelphia (PA): AACR; Cancer Res 2022;82(12_Suppl):Abstract nr 2014.

Reconstruction of Facial Multiunit Defects Using Expanded Scalp Flap with Laser Depilation in a Group of Predominantly Pediatric Patients.

Background: The cervical or thoracic region is currently the main donor site for repair of facial multiunit defects (FMUDs); however, its extensive clinical utilization encompasses the need for flap prefabrication and microsurgical techniques. Objective: To illuminate the feasibility of treating FMUD with expanded scalp flaps and laser depilation. Methods: From 2016 to 2020, 17 patients with facial giant congenital melanocytic nevi (GCMN) underwent scalp expansion for FMUD reconstruction. A three-stage surgical treatment plan was attempted and laser depilation was scheduled during the expansion period and postrepair surgeries. Results: All the flaps survived successfully and were able to cover the entire facial defect. The average three-stage treatment time was 4.5 ± 1.3 months. The defect sites included the forehead, nose, cheek, temporal, and eye areas. The maximum defect area was 9 × 30 cm. The average number of laser treatments was 4.6 ± 2.9 times. The average treatment period was 26.8 months. Sixteen patients (94.1%) reported satisfactory outcome. Conclusion: Expanded scalp flap combined with laser depilation is feasible for FMUD repair and warrants further investigation. Clinical Trail Registration Information: Translational Medicine Ethics Review Committee, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine (SH9H-2021-T144-3).

Discriminant models of the possibility of benign nevi occurrence and features in men depending on the characteristics of anthropo-somatotypological indicators

The multifactorial nature of the origin and development of nevi is the subject of debate so far. One way to understand this process and get an answer to this question is to use a constitutional method of research. The purpose of the study is to build and analyze discriminant models of benign nevi occurrence possibility in men depending on the characteristics of the structure and size of the body. For Ukrainian men aged 22 to 35 years with benign nevi (34 with melanocyte benign simple nevi; 27 with melanocyte benign dysplastic nevi; 14 with melanocyte benign congenital nevi; 17 with nonmelanocyte benign nevus) determined anthropometric indicators according to the scheme of Bunak V. V. (1941), components of the somatotype according to the Heath-Carter scheme (1990), as well as indicators of the component composition of body weight according to Matejko formulas (1921). The control group consisted of anthropometric and somatotypological indicators of 82 practically healthy men of the same age group selected from the data bank of the Research Center of National Pirogov Memorial Medical University, Vinnytsya. Discriminant analysis was performed in the licensed statistical package “Statistica 5.5”. With the help of discriminant analysis, reliable models of the possibility of benign nevi depending on the characteristics of anthropometric and somatotypological indicators are built. It was found that healthy and patients with benign nevi of men can reliably interpret the obtained classification indicators between healthy and sick, and between patients with melanocyte simple or dysplastic nevi and other groups of benign nevi (discriminant function covers 75.7 % of cases; Wilks' Lambda statistics=0.125; р<0.001). Between groups of benign nevi, reliable interpretation of the obtained classification indicators is possible only between patients with melanocyte simple or dysplastic nevi and melanocyte congenital or non-melanocyte nevi (discriminant function covers 48.4 % of cases; Wilks' Lambda statistics=0.662; р<0.001), however, the totality of all anthropological variables has little discrimination. The models of healthy and sick men include the skinfold thickness (42.8 %), girth sizes (28.6 %), shoulder width and endomorphic component of the somatotype (14.3 % each); and among men with benign nevi, only girth sizes of the body. The greatest contribution to discrimination in models of healthy and sick men is made by the circumference of the forearm at the top, the width of the shoulders and the skinfold thickness on the side; and among patients with benign nevi – chest girth on inspiration. The obtained results indicate a significant influence of environmental factors on the occurrence of benign nevi.

Oncogenic properties via MAPK signaling of the SOX5-RAF1 fusion gene identified in a wild-type NRAS/BRAF giant congenital nevus.

We recently reported an RAF rearrangement without NRAS or BRAF mutations in lesions from Giant Congenital Melanocytic Nevi (CMN). The new gene fusion involves the 5'-end of the promoter-containing N terminus of the SOX5 gene fused to exons 7-16 of the 3'-end of RAF1 gene leading to a SOX5-RAF1 fusion transcript which loses the auto-inhibitory CR1 domain but retains the complete in-frame coding sequence for the C-Terminal kinase domain of the RAF1. Stable expression of SOX5-RAF1 fusion induced growth factor-independent cell growth in murine hematopoietic Ba/F3 cells and melan-a immortalized melanocytes. Besides, it led to the transformation of both Ba/F3 and NIH 3T3 cells as revealed by colony formation assays. Furthermore, its expression results in MAPK activation assessed by increased levels of p-ERK protein in the cytosol of transduced cells. Treatment with Sorafenib and UO126 inhibited proliferation of Ba/F3-SOX5-RAF1 cells in the absence of IL3 but not the PLX 4720, a specific inhibitor of BRAF. Moreover, the tumorigenic and metastatic capacities of SOX5-RAF1 were assessed in vivo. These results indicate that SOX5-RAF1, a driver event for CMN development, has oncogenic capacity. Thus, sequencing of CMN transcriptomes may lead to the identification of this druggable fusion and interfere with the progression toward melanoma.

OPN3 Regulates Melanogenesis in Human Congenital Melanocytic Nevus Cells through Functional Interaction with BRAFV600E

OPN3, as a member of the opsin family, has various nonlight-dependent functions. Congenital melanocytic nevus (CMN) is a skin lesion with dark pigmentation that appears at birth and can be initiated by the BRAFV600E mutation in melanocytes. However, the role of OPN3 in BRAFV600E CMN cell melanogenesis has never been reported. In this study, we show that OPN3 acts as a negative regulator of melanin production by modulating BRAFV600E signaling in BRAFV600E CMN cells. Knocking down OPN3 expression can inhibit the BRAFV600E/extracellular signal‒regulated kinase signaling pathway and upregulate the expression of microcephaly-related transcription factors, tyrosinase, and TRP1 and TRP2, thus increasing melanin levels in BRAFV600E CMN cells. More remarkably, OPN3 and BRAFV600E were found to form a physical complex. Furthermore, a three-dimensional nevus model was used to further prove the negative regulatory effect of OPN3 on BRAFV600E CMN cell melanogenesis. Our study reveals a mechanism for OPN3-mediated melanogenesis in BRAFV600E CMN cells, and these results may lead to a more personalized and economically viable approach to treating BRAFV600E CMN.

Topical therapy for regression and melanoma prevention of congenital giant nevi

Giant congenital melanocytic nevi are NRAS-driven proliferations that may cover up to 80% of the body surface. Their most dangerous consequence is progression to melanoma. This risk often triggers preemptive extensive surgical excisions in childhood, producing severe lifelong challenges. We have presented preclinical models, including multiple genetically engineered mice and xenografted human lesions, which enabled testing locally applied pharmacologic agents to avoid surgery. The murine models permitted the identification of proliferative versus senescent nevus phases and treatments targeting both. These nevi recapitulated the histologic and molecular features of human giant congenital nevi, including the risk of melanoma transformation. Cutaneously delivered MEK, PI3K, and c-KIT inhibitors or proinflammatory squaric acid dibutylester (SADBE) achieved major regressions. SADBE triggered innate immunity that ablated detectable nevocytes, fully prevented melanoma, and regressed human giant nevus xenografts. These findings reveal nevus mechanistic vulnerabilities and suggest opportunities for topical interventions that may alter the therapeutic options for children with congenital giant nevi.

Keratinocyte Culture: Siriraj’s Experience

Objective: Cell-based therapy is gaining increasing prominence in medicine, where it has the potential to replace or repair damaged tissue using new engineered cells. Skin cell engineering, also known as keratinocyte culture or cultured epithelial autograft (CEA), is a promising field in cell-based therapy. CEA is now used in many parts of the world as an alternative treatment for some diseases that require large defects to be covered, such as severe and major burn patients and congenital melanocytic nevus. The use of CEA in conjunction with acellular skin substitution is rapidly expanding.Materials and Methods: This study is an initiative aimed at supporting the production and use of keratinocyte cultures at Siriraj Hospital. This is the first stage of developing sheet keratinocyte culture in vitro.Results: Our study yielded very promising results. As feeder cells, we used irradiated 3T3 murine fibroblasts, as per the standard protocol for keratinocyte culture. The growth duration was four weeks: 2 weeks for the 3T3 murine fibroblasts and 2 weeks for the keratinocytes. The keratinocytes grew rapidly and formed sheets with irradiated 3T3 murine fibroblasts. The retrieval of the cell sheets was straightforward thanks to the temperature-response cell culture dish and halo-ring cell recovery sheet. Flow cytometry revealed that the cells had a very high viability and purity. H&E staining revealed the sheets comprised two to four layers of stratified epithelial tissue.Conclusion: From this study, our method of manufacturing the CEA can offer a promising result. This can be use in the treatment which require large skin coverage. However, we aim to initiate animal and human trial phase next.

Patterns of infant dermatoses: An observational study from the dermatology outpatient clinic of a tertiary referral center

Objectives: To study the pattern of dermatoses among infants who attended the dermatology outpatient clinic of a tertiary referral center. Materials and Methods: We included 270 consecutive infants (children aged 1 year and below) with dermatoses who attended the outpatient clinic of the department of dermatology of our tertiary referral center. Using a preset proforma, we collected information on patient profile, evolution of dermatosis, and clinical features. The dermatoses observed were classified as transient and non-infective conditions, nevi and other developmental defects, genodermatoses, infections and infestations, inflammatory dermatoses, reactive dermatoses, and other miscellaneous conditions. Results: The study participants included 162 males (60%) and 108 females (40%). Fifty-three infants (53/270, 19.6%) were neonates. The most common dermatoses observed among the study participants were infections and infestations (86, 31.9%) followed by inflammatory dermatoses (83, 30.7%). Among the neonates, the common dermatoses observed were napkin dermatitis (14/53, 26.4%), transient neonatal pustular melanosis (6/53, 11.3%), and congenital melanocytic nevus (6/53, 11.3%). The common dermatoses observed among infants above 28 days were fungal infections (32/217, 14.7%), atopic dermatitis (23/217, 10.6%), miliaria (22/217, 10.1%) and infantile seborrheic dermatitis (21/217, 9.7%). Limitations: The study carried out in the outpatient clinic of the dermatology department of a tertiary referral center and the cross-sectional design were the major limitations. Conclusion: Fungal infection was the most frequently observed infection. Whether, this indicates an epidemiological shift in the prevalence of dermatophytosis in pediatric age group needs analysis in future multicenter studies. Napkin dermatitis and atopic dermatitis were the most common non-infective dermatoses in the neonatal and post-neonatal age groups, respectively.

Expanded scalp flap combined with laser hair removal to reconstruct facial defects around the hairline

Congenital and acquired facial lesions around the hairline can bring huge physical and psychological trauma to patients. At present, reconstruction of this area remains a challenge. In this study, we present an alternative technique to reconstruct the aesthetic units using an expanded scalp flap combined with laser hair removal. We retrospectively reviewed 25 cases of facial lesions around the hairline reconstructed with this surgical technique between May 2014 and May 2020. Expander was implanted under the scalp as designed before the operation. After the expander was fully expanded, the lesion was removed and the scalp flap was transferred. Laser hair removal was performed on the transplanted skin flap 2 weeks after flap transfer. There were ten cases of postburn scar, nine cases of congenital nevus, four cases of traumatic scar, one case of haemangioma, and one case of nevus sebaceous. The median times of laser treatment was 3 (range, 1-8). The median follow-up time was 11 months, ranging from 1 to 27 months. The colour and texture of expanded flaps were similar to adjacent tissue in all cases. The direction of reserved hair in transferred flaps was consistent with the direction of hair in the recipient area or contralateral hair. There were no complications, such as infection, blistering, discolouration, and ulceration. All patients were satisfied with the appearance of the reconstructed hairline and the surgical outcomes. The expanded scalp flap combined with laser hair removal is a feasible and effective technique to reconstruct both sides of the hairline simultaneously from a single donor site with a good colour match and a similar texture and thickness.

Pigmentary complications after non-medical male circumcision

BackgroundA wide spectrum of complications are reported after male circumcision (MC), the non-aesthetic complications are well known, but the pigmentary complications scale are not reported precisely.MethodsThis is a prospective cohort study of 550 circumcised boys; aged from 6 months to 14 years (62% aged 5 years) who were examined and appropriately investigated for the incidence of pigmentary complications after circumcision. Most diagnoses were clinically, but dermoscopy was done for 17 case and a skin biopsy for 14 cases. Patients with personal or family history of vitiligo, or congenital nevi were excluded. Available hospital records details and parents' statements were revised. The main outcome measures are the incidence of different pigmentary complications and circumcision details; data were analyzed by a non-parametric tests including the Mann–Whitney U test.Results69 cases had 72 confirmed pigmentary complications discovered at 2–36 months after commencement of circumcision (mean 18). 48 cases had pigmentary complications directly related to MC, 11 cases were probably related and 10 unrelated to MC. The most common lesion is the circular hyperpigmented scar (29 cases); liner hyperpigmented scar in 13, spotted exogenous melanosis in 18 cases, melanocytic nevi (7), hypopigmentation diagnosed in 3 cases, but kissing nevus is the rarest finding (2). Topical corticosteroid was tried in 15 cases, surgical excision of pigmented scar were done for 19 cases, local laser used for 4 resistant cases and reassurance with follow up for the rest.ConclusionPigmentary complications after male circumcision are not rare and its management is challenging.

Facial anatomical site-related variation in short-term outcomes of laser treatment for congenital melanocytic nevi

Laser treatment for congenital melanocytic nevi (CMN) is controversial. Correlations between anatomical distribution of facial CMN and efficacy of laser treatment have not been characterized. A total of 90 facial CMN treated with ablative laser (Er:YAG or CO2 laser) were retrospectively reviewed. Clinical assessments were completed by at least two plastic surgeons using the Investigator’s Global Assessment (IGA) score. The mean IGA score was 4.37. The IGA scores recorded at the periorbital, temple/forehead, nose, cheek and lip/chin areas were 3.68, 5.88, 4.63, 4.52 and 4.92, respectively (p = 0.03). Moreover, facial CMN with uniform pigment distribution showed higher IGA scores than those with a non-uniform pigment distribution. Thickening, hairiness and age at first treatment were not statistically correlated with laser efficacy. Correlations between anatomical distribution and the efficacy of laser treatment are described for the first time. The subdivided anatomical distribution of facial CMN can yield meaningful information on predicting the efficacy of laser treatment.

Transverse body sizes in men with benign nevi

Annotation. Malignant and benign skin neoplasms are multifactorial diseases, the development of which is perhaps most related to environmental factors. The search for constitutional markers for predicting the occurrence of these cancers has become one of the most promising areas of research in the field of oncology. The aim of the study was to establish the features of transverse body sizes in Ukrainian men with benign nevi. In Ukrainian men (aged 22-35 years) with benign nevi (melanocyte simple – 34, melanocyte dysplastic – 27, melanocyte congenital – 14 and non-melanocyte benign – 17), body diameters and pelvic sizes were determined. The control group consisted of similar size 82 healthy men from the database of the research center National Pirogov Memorial Medical University, Vinnytsya. Statistical processing of the results was performed in the license package “Statistica 5.5” using non-parametric evaluation methods. Practically healthy Ukrainian men had significantly lower values than men with benign nevi, transverse middle thoracic, lower thoracic and anteroposterior mid-sternal torso diameters on the background of significantly greater shoulder width. Also in practically healthy men interspinous, intercristal and intertrochanteric distances are significantly smaller than in patients with melanocyte benign simple nevi, and only interspinous and intercristal distances are compared to non-melanocyte benign nevi. In patients with melanocyte simple nevi of men found: significantly higher values than in patients with melanocyte dysplastic nevi of transverse middle thoracic and lower thoracic diameters and all pelvic distances; significantly greater or tendency to greater values than in patients with melanocyte congenital nevi intercristal and intertrochanteric distances; significantly lower values than in patients with melanocyte congenital and non-melanocyte benign shoulder-width nevi. In patients with melanocyte dysplastic nevi found: significantly less important than in patients with melanocytic congenital nevi shoulder-width; tendencies to lower values than in patients with non-melanocyte benign nevi of transverse lower thoracic diameter, shoulder width and interspinous distance. The differences in body diameters and pelvic sizes between healthy and benign nevi in Ukrainian men, as well as between sick men are phenotypic markers that, together with other anthropometric indicators, identify risk groups for the possibility of benign nevi.

Establishment and characterization of an immortalized human giant congenital melanocytic nevi cell line.

Treatments for giant congenital melanocytic nevi (GCMN) are extremely limited. Thus, there is an urgent need for development of relevant targeted therapies. However, current lack of preclinical cell models restricts progress in GCMN research. In this study, we aimed to establish and characterize an immortalized GCMN cell line. GCMN cells were successfully immortalized by means of lentivirus-mediated simian virus 40 large T transfection. The immortalized GNC cell line (ImGNC) showed lower proliferation rate and higher melanin content than primary melanocytes. Expression levels of the differentiation gene MITF and stemness genes TWIST1, SNAI1, and FOXD3 were elevated in ImGNCs; however, the established ImGNC cell line was immortalized but not transformed. Sanger sequencing detected the heterozygous NRASQ61K mutation in ImGNCs, but not the BRAFV600E mutation. Despite carrying the NRASQ61K allele, ImGNCs demonstrated suppressed MAPK activation and elevated PI3K/Akt activation, as compared with primary melanocytes. Drug sensitivity analysis showed that ImGNCs are more sensitive to PI3K/Akt and Bcl-2 inhibitors than to MEK or ERK inhibitors. Unlike the proliferation-inhibiting effect of PI3K/Akt inhibitors, the Bcl-2 inhibitor navitoclax promptly promoted apoptosis in ImGNCs. Considering the low proliferation characteristics of GCMN in vivo, Bcl-2 may be a potential therapeutic target that warrants further research.

Psychological Consequences of Dealing with Congenital Melanocytic Nevi- Case Study

This commentary is a follow-up to “Traumatic Stress Among Children After Surgical Intervention for Congenital Melanocytic Nevi: A Pilot Study” [1]. This study found that Children with CMN Show a high level of post-traumatic stress disorder after surgery and that distress affects their mental functioning. These finding semphasizes the importance of actions for prevention and early treatment of PMTS. It seems that since the long therapeutic process for CMN requires continued compliance from the children and their parents, implementing that preventive actions might influence the success of the whole surgical and reconstructive process. In this article we will present a case study of preventive care for a child with CMN who suffered from symptoms of post-traumatic stress disorder following her medical coping.

EP362: Mosaic RAS family in-frame insertion variants in patients with hemangiomas and vascular malformations

The RAS/MAPK pathway is involved in the cell cycle, cell growth, differentiation, and senescence. Germline variants that result in RAS/MAPK pathway dysregulation are associated with congenital diseases with overlapping clinical features, known as RASopathies. Mosaic variants in RAS genes, HRAS, KRAS, and NRAS, have been recently described in disorders of somatic mosaicism (DoSM), including vascular tumors, vascular malformations, nevus sebaceus, keratinocytic epidermal nevi, congenital nevi, segmental overgrowth, and digital anomalies.

Quality of Life in Chinese Patients With Large Congenital Melanocytic Nevi

BackgroundLarge congenital melanocytic nevus (LCMN) is a rare skin disease that deeply affects an individual's appearance, may influence patients' self-evaluation and social relationships, and further affects their quality of life (QoL). The Skindex-29 and 36-Item Short Form Survey (SF-36) are valid instruments used to evaluate QoL specifically. It is necessary to assess the QoL of patients with LCMN and summarize potentially impactful factors to help people understand LCMN patients and assist doctors in offering professional advice.MethodsTwenty-five patients were recruited from Shanghai Ninth People's Hospital from July 1st, 2019, to March 31st, 2021. Both males and females were included, and the age groups were divided into infants (0–6 y), children (7–12 y), teenagers (13–17 y) and youths (18–45 y). The Skindex-29 and SF-36 were applied as questionnaires for the assessment of QoL. Clinical information was acquired by physical examination.ResultsQoL in patients with LCMN was diminished, especially in the emotional aspect. However, different genders, ages and distribution patterns of LCMN did not significantly influence QoL, but the patterns of “Bonce” and “Body” affected QoL the most and the severest. The results of Skindex-29 and SF-36 were consistent in that LCMN mainly reduced QoL from an emotional perspective.ConclusionsThis research shows that LCMN has the strongest impact on patients' emotional wellbeing but weakly influences the whole fettle of QoL. The gender, age and distribution patterns of lesions all have no direct effect on QoL, although a larger proportion of LCMNs probably insinuates worse QoL. Even though patients with LCMN show better QoL than those with other visible skin conditions, their general mental health still requires ample attention from surroundings and professional doctors.

White halo around a congenital melanocytic naevus

<p class="abstract">This is a case report of Sutton nevus/ Halo naevus/ leukoderma acquisitum centrifugum in a young boy around congenital melanocytic naevus without any associated vitiligo. Halo naevi occur in 1% of the white population. The prevalence is higher in patients with Turner syndrome. It can occur at any age but frequently occurs in a young person. It can be associated with vitiligo and turner syndrome. Postulated pathogenesis is destruction of the melanocytes by cytotoxic T cells. There is frequently lymphocytic infiltration around the naevus in the histopathological examination, and ultrastructurally we can see cytotoxic changes in the naevus cells. It is mainly seen around the acquired congenital naevus but can also occur around spitz naevi, neurofibroma, primary or secondary malignant melanoma. 50% Sutton naevus regress in months to years. Usually, no treatment is required unless, when in doubt, you can do an excision biopsy. Our patient was managed conservatively and followed every six months. This case is being reported because of the condition's rarity and for learning purposes. </p>

Giant Congenital Melanocytic Nevi of the Head and Neck: Clinical Update and Advances in Treatment

Introduction: Giant congenital melanocytic nevi are rare lesions of various size, shape, color, and location with potential complications including malignant and neurocutaneous melanoma. Here we discuss the etiology and epidemiology of giant congenital melanocytic nevi, the indications and options for treatment, and current data regarding outcomes, as well as our preferred approach to patient management. Methods: Full text case reports, retrospective studies, prospective studies, clinical trials, and review articles regarding giant congenital melanocytic nevi in English were included in this analysis utilizing PubMed, MEDLINE, EMBASE, and Google scholar databases. Results: Giant congenital melanocytic nevi pose a difficult diagnostic and reconstructive challenge for the plastic surgeon. Indications for treatment depend on the size of the nevus, pigmentation, established melanoma, persistent symptoms, maintenance of function, and psychological burden. A multidisciplinary approach should be applied to establish an individualized treatment plan for patients with giant congenital melanocytic nevi. Numerous surgical and nonexcisional options have been illustrated for the management of these lesions. Chemical peels and laser ablation are among the most common non-surgical approaches. When considering surgical treatment for lesions with malignant potential, a multimodal approach is generally employed, including serial excision, excision with skin grafting and/or skin substitutes, and tissue expansion. Conclusion: A proper understanding of the disease’s histology, natural history, complications, and treatment options are essential in the management of these complex lesions.

Genodermatoses associated with melanocytic nevi

Though melanocytic nevi are ubiquitous in the general population, they can also be key cutaneous manifestations of genetic syndromes. We describe genodermatoses associated with melanocytic nevi and discuss their clinical characteristics, cutaneous manifestations, underlying genetics, and, if applicable, guidelines for when genetic testing should be performed. We categorized these genodermatoses based on their association with congenital nevi, acquired nevi, or nevi whose first appearance is unknown. In many cases, the distinctive morphology or distribution of melanocytic nevi can be an important clue that an underlying genetic syndrome is present, allowing both the patient as well as family members to be screened for the more serious complications of their genetic disorder and receive education on potential preventative measures. As we continue to advance our understanding of how various genotypes give rise to the wide spectrum of phenotypes observed in these genodermatoses, we shall be able to better stratify risk and tailor our screening methods to clinically manage the heterogeneous manifestations of genodermatoses among these patients.

Management of kissing nevus of eyelid by radiofrequency ablation: A case report

Kissing nevus or divided nevus is a rare form of congenital nevus that usually occurs on adjacent parts of the upper and lower eyelids of one eye. Most often, the formation is present since birth, but it may also appear later during the course of life. We are reporting a case of kissing nevus of eyelids in 27 year old female present since birth and treated by microdissection radiofrequency ablation (MRA) over a period of 4 months in 2 sittings and patient was followed up regularly on OPD basis. It showed good cosmetic results without any structural and functional impairment. With the advantage of simplicity, precision and effectiveness, radiofrequency ablation can be used to treat kissing nevus with good cosmetic results and skin grafting can be avoided.