Congenital Nevi Research Articles

Newborn Wearing an Ascot Cap

This report describes a newborn with a congenital melanocytic nevus (CMN) over the scalp, which gave a striking appearance of an Ascot cap. Though CMN are common, their location gives a unique look and associated findings (dermatological lesions like satellite lesions, café-au-lait spots, Mongolian spots, etc.) are often underappreciated in clinical practice. Through this report, we also wish to convey a message that clinicians should decide the need for investigations (MRI brain to rule out neurocutaneous melanosis) in these benign conditions are based on individual risks rather than merely the presence of CMN.

Rapidly fatal metastatic melanoma arising from a congenital nevus in a young female

Melanoma is an aggressive and potentially fatal tumor of melanocytic origin. It may occur at any age yet more rarely at a young age. Melanomas in young patients have overall a more favorable prognosis than in older. However, progression to the metastatic stage and the death of the patient are not exceptional. One of the major risk factors for the development of melanoma in children and young adults is the congenital melanocytic nevus (CMN) [3]. The risk of malignant transformation of all congenital nevi ranges from 0.05% to 10.7%. The risk of malignant degeneration is correlated with size and location [4]. The size of the CMN above 40 cm as well as the presence of satellite nevi and the location in the trunk seem to increase the risk of developing MM. The role of surgical removal in inducing melanomas is controversial. In anatomopathology, melanomas arising from CMNs are usually located in the dermis and hypodermis, while melanocytic proliferation in a melanoma without a CMN starts in the epidermis [3]. Given the differences in the anatomical involvement of the disease, melanoma arising from congenital nevi may be considered a separate entity from the conventional case of melanoma and management may differ. Large excision may not be sufficient to remove all neoplastic cells from the nevi, and adjuvant aggressive systemic therapies may be essential to avoid a fatal outcome. A recent study revealed that congenital nevi preferentially harbor NRAS mutations rather than BRAF mutations commonly seen in other types of nevi, indicating an altered molecular basis of nevogenesis in congenital nevi. Herein, we report the case of a rapidly fatal metastatic melanoma in a young female arising from a congenital nevus of the trunk.

Management of Congenital Melanocytic Naevus (CMN) of the Lower Pole of the Breast Causing Secondary Tuberous Breast Deformity (TBD)- A Case Report and Review of Literature: Congenital Melanocytic Naevus &Tuberous Breast Deformity

A 19-year-old woman was referred with a congenital melanocytic naevus (CMN) involving the lower pole of her right breast, combined with features of tuberous breast deformity (TBD) and breast asymmetry. Staged correction of the breast asymmetry was planned. The first stage involved recruitment of her right upper abdominal skin, in a reverse abdominoplasty manner, to address the lower pole skin deficiency. Extensive radial release of the constriction bands across the original IMF (inframammary fold), and circum-areolar mastopexy were performed. A sub-glandular breast implant was inserted. Four weeks later, she presented with minor inframammary wound breakdown. Washout and removal of the implant, combined with breast parenchymal tissue rearrangement was performed. We performed her planned second stage 3 months later in the form of; a right vertical pattern mastopexy, lipofilling and revision of the reverse abdominoplasty to adjust the nipple and IMF position. The remaining CMN was excised and resurfaced with a full thickness skin graft from the contralateral mastopexy. The leathery quality of CMN makes the achievement of correcting the breast deformity impossible without its excision. This combination of CMN and TBD makes management of these cases more challenging than manging each on its own. To the best of our knowledge, this is the first case report of the effect of moderate CMN on the breast and its development.

PERFIL EPIDEMIOLÓGICO E CLÍNICO DE CRIANÇAS COM NEVO MELANOCÍTICO CONGÊNITO GIGANTE EM UM SERVIÇO DE DERMATOLOGIA

ABSTRACT: Objective: to describe five children with Congenital Giant Melanocytic Nevus (NMCG) at the Dermatology Service at the State University of Pará in Belém - PA, Brazil. Case description: patients aged 1 to 11 years, four of whom were female, all of them brown, in good nutritional status, prenatal without complications, and denied consanguinity. The five cases presented lesions on the trunk, with different distribution patterns: swimming trunks (1), body (1), back (1), and bolero (2), most with more than fifty satellite lesions containing hypertrichosis and pruritus. In the histopathological analysis, all of them were compatible with a nevus, one of the cases was associated with a neurofibroma, two with neurocutaneous melanosis and one with melanoma in the brain, evolving to death. Comments: Congenital Giant Melanocytic Nevus is a rare condition, defined by the presence of a melanocytic lesion, measuring at least 20 cm, present since birth. It has its clinical relevance due to the association with serious complications such as melanoma and / or neurocutaneous melanosis. The registration of this series aims to contribute to greater knowledge about the disease, which has physical, psycho-emotional, social, and risk of malignancy implications.

Perfil epidemiológico e clínico de crianças com nevo melanocítico congênito gigante em um serviço de dermatologia

OBJECTIVE: to describe five children with Congenital Giant Melanocytic Nevus (NMCG) at the Dermatology Service at the State University of Pará in Belém - PA, Brazil. CASE DESCRIPTION: patients aged 1 to 11 years, four of whom were female, all of them brown, in good nutritional status, prenatal without complications, and denied consanguinity. The five cases presented lesions on the trunk, with different distribution patterns: swimming trunks (1), body (1), back (1), and bolero (2), most with more than fifty satellite lesions containing hypertrichosis and pruritus. In the histopathological analysis, all of them were compatible with a nevus, one of the cases was associated with a neurofibroma, two with neurocutaneous melanosis and one with melanoma in the brain, evolving to death. COMMENTS: Congenital Giant Melanocytic Nevus is a rare condition, defined by the presence of a melanocytic lesion, measuring at least 20 cm, present since birth. It has its clinical relevance due to the association with serious complications such as melanoma and / or neurocutaneous melanosis. The registration of this series aims to contribute to greater knowledge about the disease, which has physical, psycho-emotional, social, and risk of malignancy implications.

A Newborn with a Giant Congenital Melanocytic Nevus and Hyperbilirubinemia: What to do Now

Giant congenital melanocytic nevi (GCMN) are rare skin lesions that affect approximately 1 in 20,000 live births. GCMN must be followed up closely because of its association with an increased risk of malignant degeneration. We report a newborn with a giant lession of 14 cm in diameter which was located on the chest and multiple satellite lesions were present on the body. The patient required phototherapy due to hyperbilirubinemia. Some studies suggest that phototherapy can increase the incidence of neonatalnevi, and melanocytic nevi is the most important risk factor for the occurrence of skin melanoma. Considering the risk of developing kernicterus, we concluded that the most appropriate solution for the patient was to cover the lesions and apply phototherapy in the prone position.

Non-multiple medium-sized congenital melanocytic nevi: to excise or to follow up?

Congenital melanocytic nevi (CMN) are benign lesions composed of clonal proliferations of melanocytes. Although medium-sized CMN are common and generally remain benign throughout a person's lifetime, they may be precursors of melanoma. There is a limited number of studies focused on the risk of melanoma in solitary, medium-sized, congenital melanocytic nevus; therefore, the incidence of malignant transformation and guidelines for treatment are not well established. Prompted by the limited data, we conducted this study to gather more information about medium-sized CMN, to optimize clinical care. We share our analysis of surgically removed medium-sized CMN. A total of 10 patients with non-multiple, medium-sized, congenital melanocytic nevus were included in this study. Lesions were removed using surgical procedures. In most of the cases the reason for excision of the medium-sized CMN was evolution of the lesion or aesthetic considerations reported by the patients. In 2 cases, due to the large size of the lesions, serial excisions were performed, while other CMN were removed surgically using simple excision technique. Eight of 10 medium-sized CMN were histologically described as benign, and 2 cases of malignant transformations were reported. According to our clinical experience and knowledge, we recommend managing patients on an individual basis, taking into consideration multiple clinical attributes. In our opinion, long-lasting observation is the management of choice, and if there is need of surgery, we recommend total simple or staged excision depending on nevus size.

Congenital Giant Melanocytic Nevus with Meningeal Melanocytosis in a Term Neonate- A Case Report

Congenital giant melanocytic nevus presenting in the neonatal period is a clinical diagnosis, but the extra dermatology manifestations require early recognition. Meningeal melanocytosis is one such association which increases the risk of epilepsy. We report a neonate with large congenital melanocytic nevus over the torso with satellite lesions presenting with meningeal melanocytotic in the right parietal and cerebellar region. We discuss the clinical course, management and review the literature on this condition.

Squamous Cell Carcinoma Arising in the Irradiated Field More than 60 Years after Radiotherapy for a Giant Congenital Melanocytic Nevus.

Squamous Cell Carcinoma Arising in the Irradiated Field More than 60 Years after Radiotherapy for a Giant Congenital Melanocytic Nevus.

Congenital Melanocytic Nevi of the Lower Limb: The Rule of Thumb for Surgical Excision in Children

Congenital melanocytic nevi (CMN) of the lower limb display the highest projected adult size. Surgical management includes simple excision and also more complex interventions with tissue expansion, skin graft, or flap, depending on the CMN size and patient age.

Bulky Perineal Naevocytoma with a Rare Variant of Giant Congenital Melanocytic Nevus in a Female Neonate

Bulky Perineal Naevocytoma with a Rare Variant of Giant Congenital Melanocytic Nevus in a Female Neonate

Spotlight in Plastic Surgery: January 2023.

Spotlight in Plastic Surgery: January 2023.

A Curious Case of an Accented Extra Nose.

There have been about 60 cases of supernumerary nostril reported. We encountered a 38 weeker, male child with supernumerary nostril and midline congenital nevus which was later locally excised. The uniqueness of our case is the presence of an entirely well-formed nostril perched on top on the normal nose.

Melanomas in children and adolescents: Clinicopathologic features and survival outcomes

Melanoma in the first two decades of life is uncommon and poorly understood. To assess clinicopathologic features and survival of children (≤11 years) and adolescents (12-19years) diagnosed with melanoma. A pooled cohort of 514 patients was analyzed (397 Dutch, 117 Australian; 62 children, 452 adolescents). Pathology reports were re-evaluated to determine melanoma subtypes. Multivariable Cox models were generated for recurrence-free survival (RFS) and overall survival (OS). Melanoma subtypes were conventional melanoma (superficial spreading, nodular, desmoplastic, acral lentiginous), spitzoid melanoma, and melanoma associated with a congenital nevus in 428, 78, and 8 patients, respectively. Ten-year RFS was 91.5% (95%CI 82.4-100%) in children and 86.4% (95%CI 82.7-90.3%) in adolescents (p=0.32). Ten-year OS was 100% in children and 92.7% (95%CI 89.8-95.8%) in adolescents (p=0.09). On multivariable analysis possible only for the adolescent cohort due to the small number of children, ulceration status and anatomic site were associated with RFS and OS, whereas age, sex, mitotic index, sentinel node status and melanoma subtype were not. Breslow thickness >4mm was associated with worse RFS. Retrospective study. Survival rates for children and adolescents with melanomas were high. Ulceration, head or neck location and Breslow thickness >4mm predicted worse survival in adolescents.

Histopathological and Immunohistochemical Features of Small to Big Satellite Nevus Uncover the Nevogenesis of Large/Giant Congenital Melanocytic Nevus.

The nevogenesis of large/giant congenital melanocytic nevus (lgCMN) is a complex biological process including several integral prenatal stages. Limited by ethical concerns, the debate of whether lgCMN develops from the epidermis to the dermis or in the opposite direction remains controversial. With the present study of the accompanying satellite nevi, we tend to support that lgCMN develops from epidermis to dermis. The satellite nevi were divided into 3 groups: big (diameter >10 mm), medium (>5 mm but ≤10 mm), and small (≤5 mm). Hematoxylin and eosin and immunohistochemical staining (SOX10, Ki67, and p16) were performed to compare the nevocyte infiltration depth as well as the positively stained rates among these satellite nevi. Compared to big satellite nevi, less deeply the nevocytes infiltrated the dermis, as well as more cells expressed SOX10 and Ki67 in the epidermis and fewer cells expressed p16 in the dermis of small satellite nevi. Additionally, two specimens were obtained from each of 4 patients who underwent serial resections of lgCMN at an average interval of 1.75 years to examine the histopathological changes. In the present study, satellite nevi of different sizes represent different stages of lgCMN from early to late, deepening our comprehension of the sequential stages of lgCMN nevogenesis. Initially, abnormal nevocytes seeded, proliferated, and spread along the epidermis. At rete ridges that protrude from the papillary dermis within the epidermis, some nevocytes formed nests and gradually penetrated into the dermis. Eventually, the nevocytes infiltrated the dermis and entered a homeostatic state. This study provides new evidence supporting the theory of epidermal-to-dermal nevogenesis in lgCMN.

NRAS p.Q61R/K allele load is correlated to different phenotypes of congenital melanocytic naevi.

Congenital melanocytic naevi (CMN) are known to be associated with mosaic NRAS or BRAF variants. However, the exact correlations of the allele load of mosaic variants in CMN with phenotypic characteristics have not been determined. To determine the correlation of variants allele load and different phenotypes of CMN. A panel of genes in the Ras/Raf/MAPK signalling pathway was selected for sequencing in 110 patients with CMN. Correlations between variant allele load and clinical phenotypes, including anatomical localization, projected adult size of the lesion, satellites, subcutaneous nodules, surface rugosity, colour variation and hypertrichosis, were analysed. In addition to the predominant NRAS p.Q61R/K (61.8%) and BRAF p.V600E variants (10%) in patients, we also detected additional variants of NRAS (p.G13R and p.M72fs), BRAF (p.D22N) and MAP2K1 (p.I107fs, p.F209fs, p.Q354H and p.G91_L92insHDQARRLVGDLEHHKPSG). Furthermore, a higher allele load of NRAS p.Q61R/K was found in the trunk and limbs of CMN. It was also found in CMN with larger size, higher colour variation and more significant hypertrichosis, surface rugosity and asymmetry. We discovered more genetic variants of NRAS, BRAF and MAP2K1 and established a correlation between the allele load of NRAS p.Q61R/K and various phenotypes in CMN. The findings of this study potentially facilitate a more accurate and comprehensive classification of CMN in addition to the phenotypic or pathological characteristics used in clinical practice.

Defining patient-centered research priorities in pediatric dermatology.

Patient and caregiver perspectives are critical in understanding dermatologic disease impact, presentation, and management in children. The Pediatric Dermatology Research Alliance (PeDRA) Patient Advisory Committee (PtAC), a group of patient representatives and parents of children with cutaneous disease, pursued a multistep, iterative, consensus-building process to identify comprehensive, high-priority research needs. Building on discussions at the 2020 PeDRA Annual Conference, a research prioritization survey was developed and completed by PtAC members. Survey themes were aggregated and workshopped by the PtAC through a series of facilitated calls. Emerging priorities were refined in collaboration with additional PeDRA patient community members at the 2021 PeDRA Annual Conference. Subsequently, a final actionable list was agreed upon. Fourteen PtAC members (86.7% female) representing patients with alopecia areata, atopic dermatitis, vascular birthmarks, congenital melanocytic nevi, ectodermal dysplasias, epidermolysis bullosa, Gorlin syndrome, hidradenitis suppurativa, ichthyosis, pemphigus, psoriasis, Sturge-Weber syndrome, and pachyonychia congenita completed the survey. Following serial PtAC meetings, 60 research needs were identified from five domains: psychosocial challenges, health care navigation/disease management, causes/triggers, treatments to preserve or save life, and treatments to preserve or save quality of life. Many pediatric dermatology research priorities align across affected communities and may drive meaningful, patient-centric initiatives and investigations.

Deficiencies in mismatch DNA repair: providing the soil for large-to-giant congenital melanocytic naevus development.

Deficiencies in mismatch DNA repair: providing the soil for large-to-giant congenital melanocytic naevus development.

260 Mosaic BRAF fusions are a recurrent cause of multiple congenital melanocytic naevi

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 develop a highly proliferative phenotype whose progression is poorly understood. Genotypically, CMN are caused by mosaic NRAS missense mutations in 67% of cases and BRAF missense mutations in 7% of cases. Single cases of mosaic gene fusions have been previously described. To investigate the remaining 25%, skin biopsies from 19 patients shown to be double wildtype for NRAS/BRAF underwent transcriptome-wide paired-end RNA sequencing to detect gene fusion transcripts.

Reflectance confocal microscopy in paediatric patients: Applications and limits.

Reflectance confocal microscopy (RCM) is a non-invasive diagnostic tool extensively studied for adult patients. In this retrospective case series conducted at the Dermatology Unit of the University of Campania, Naples, Italy, all patients under 19 years old who were submitted to RCM from January 2011 to December 2021 where evaluated. The aim of the study was to review the most usual indications and possible benefits that it might add for children. Data collection included 215 patients (86 males and 129 females, mean age: 12). Most of the exams (n=85; 39.5%) were performed for lesions clinically compatible with Spitz nevi, congenital nevi (n=50 23,2%) and atypical melanocytic lesions (n=46; 21%) among which two melanomas were detected. RCM can be an useful instrument when evaluating paediatric patients and may help avoid unnecessary biopsy in most cases, representing an additional instrument to improve diagnostic accuracy.