Congenital Nevi Research Articles

The association of BRAF V600E gene mutation with proliferative activity and histopathological characteristics of congenital melanocytic nevi in children

BackgroundA lot of congenital melanocytic nevi (CMN) carry the somatic mutation in the oncogene BRAF V600E. But the detailed histopathologic characteristics and the proliferative activity of CMN with BRAF V600E gene mutation have not been systematically documented. ObjectiveTo identify the proliferative activity and histopathological features correlating them with BRAF V600E gene mutation status in CMN. MethodsCMN were retrospectively identified from the laboratory reporting system. Mutations were determined by Sanger sequencing. The CMN were divided into a mutant group and control group according to whether there was BRAF gene mutation and were strictly matched according to gender, age, nevus size, and location. Histopathological analysis, analysis of Ki67 expression by immunohistochemistry and laser confocal fluorescence microscopy were performed. ResultsThe differences in Ki67 index, the depth of nevus cell involvement and the number of nevus cell nests between the mutant group and the control group was statistically significant, with p-values of 0.041, 0.002 and 0.007, respectively. Compared with BRAF V600E negative nevi, BRAF V600E positive nevi often exhibited predominantly nested intraepidermal melanocytes, and larger junctional nests, but the difference in this data sets were not statistically significant. The number of nests (p = 0.001) was positively correlated with the proportion of Ki67 positive cells. Study limitationsA small sample of patients were included and there was no follow-up. ConclusionsBRAF V600E gene mutations were associated with high proliferative activity and distinct histopathological features in congenital melanocytic nevi.

Giant Congenital Melanocytic Nevus Correction: A Case Report

<h3>Abstract</h3> Giant congenital melanocytic nevi are usually an aesthetic challenge, especially in very exposed areas of the body. A multidisciplinary approach is suggested to achieve the best result for surgical management and long-term follow-up of these lesions. We present a patient with a frontoparietal giant melanocytic congenital nevus where reconstructive surgical treatment was thanks to the joint efforts between a plastic surgeon, who performed a partial excision W-plasty to re-create a hairline, and a hair restoration surgeon, who performed preview long hair FUE to achieve optimal scalp-nevus coverage.

Germline genomic findings in children and young adults with melanocytic tumors

In this retrospective study, we examined the prevalence and spectrum of germline variants in selected cancer predisposition genes in 38 children and young adults with melanocytic lesions at St. Jude Children's Research Hospital. Diagnoses included malignant melanoma (n=16; 42%), spitzoid melanoma (n=16; 42%), uveal melanoma (n=5; 13%), and malignant melanoma arising in a giant congenital melanocytic nevus (n=1; 3%). Six patients (15.8%) harbored pathogenic germline variants: one with bi-allelic PMS2 variants, one with a heterozygous 17q21.31 deletion, and one each with a pathogenic variant in TP53, BRIP1, ATM, or AXIN2. Overall, 15.8% of patients harbored a cancer-predisposing genetic variant.

1221 Tumor-immune cell interaction in melanoma progression arising from congenital melanocytic nevus analyzed by spatial transcriptomics

1221 Tumor-immune cell interaction in melanoma progression arising from congenital melanocytic nevus analyzed by spatial transcriptomics

851 RNA therapy for congenital melanocytic naevi

851 RNA therapy for congenital melanocytic naevi

Congenital Naevus: Case Report of an Atypical Atrial Location

Congenital naevi are a benign proliferation of melanocytes. Present at birth or appearing in the first weeks of life, they have the appearance of light to dark brown lesions, sometimes bluish, more or less hairy. It is a non-hereditary mosaic pathology. They are due to postzygotic somatic mutations involving key proteins in the mitogen-activated protein kinase pathway, mainly NRAS and BRAF. Its prevalence is estimated to be between 1 and 3% of newborns. This disease can affect any part of the skin. There are 3 types of naevi: small, medium and large naevi then called giant. The objective was to discuss the clinical and therapeutic aspect of a congenital auricular naevus of medium size. We report the case of an 18 years old girl presenting a sessile tumefaction at the level of the concha of the right auricle that appeared from birth, firm, rough, unique, about 5 cm in diameter, homogeneous in color, pigmented, hairy, painless to palpation, apyretic sometimes pruritic without any other associated sign. The diagnosis of benign congenital naevus was clinically made after confirmation by the dermatologist. Surgical removal was performed. The postoperative course was simple with complete healing after one month. The middle congenital naevus is a benign tumor linked to a genetic variation of low incidence, which is all the more rare as it is located on the ear, thus having a significant psychological impact due to its often unsightly appearance. The diagnosis of this genodermatosis is essentially clinical. When it is an isolated nodule, as in our study, total surgical removal is a good alternative with simple after-effects and an almost non-existent risk of malignant transformation.

Current recommendations for congenital melanocytic nevi

Congenital melanocytic nevi are pigmented birthmarks, some of which have aconsiderable size. In some cases, not only the skin but also the brain or spinal cord are affected. Many aspects about how to manage this disease have been reconsidered and partly changed over the last 20years. This article summarizes the current state of knowledge and treatment recommendations.

Congenital melanocytic naevus syndrome, is there a role for trametinib monotherapy?

Journal of Paediatrics and Child HealthVolume 59, Issue 4 p. 697-699 Case Report Congenital melanocytic naevus syndrome, is there a role for trametinib monotherapy? Emily Copland, Corresponding Author Emily Copland [email protected] orcid.org/0000-0002-1411-424X Department of Paediatrics, Timaru Hospital, South Canterbury District Health Board, Timaru, New Zealand Correspondence: Dr Emily Copland, Timaru Hospital, Queen Street, Parkside, Timaru 7910, New Zealand; email: [email protected]Search for more papers by this authorBenjamin Pearson, Benjamin Pearson Department of Paediatrics, Timaru Hospital, South Canterbury District Health Board, Timaru, New ZealandSearch for more papers by this author Emily Copland, Corresponding Author Emily Copland [email protected] orcid.org/0000-0002-1411-424X Department of Paediatrics, Timaru Hospital, South Canterbury District Health Board, Timaru, New Zealand Correspondence: Dr Emily Copland, Timaru Hospital, Queen Street, Parkside, Timaru 7910, New Zealand; email: [email protected]Search for more papers by this authorBenjamin Pearson, Benjamin Pearson Department of Paediatrics, Timaru Hospital, South Canterbury District Health Board, Timaru, New ZealandSearch for more papers by this author First published: 03 April 2023 https://doi.org/10.1111/jpc.16393 Grant: None. Conflict of interest: None declared. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. Volume59, Issue4April 2023Pages 697-699 RelatedInformation

Tumescent local anaesthesia for the surgical therapy of congenital nevi in the first year of life.

The indication for surgical treatment of congenital nevi must be made after individual consideration of the expected benefit and risk and requires careful information of the parents as well as interdisciplinary psychological support. In addition to suspected malignancy, a relevant indication is the risk of stigmatization depending on the size and localization of the nevus. Objective was to show which size reduction of the congenital nevus can be achieved by surgical therapy under tumescent local anaesthesia (TLA) in infancy and how often complications of anaesthesia or surgery occur. All infants up to 12 months of age who underwent surgery for a congenital nevus under TLA at the University Dermatological Clinic Tuebingen between January 2015 and December 2021 were included; surgeries were performed using serial excisions (powerstretching technique), whereby the incisions were made inside the nevus and mobilization was strictly limited to the skin side without nevus. Overall, a cumulative total area of 38.65 cm2 could be removed on average within the first year of life (trunk: 67 cm2 , head: 21.2cm2 , legs: 21.6cm2 , arms: 13.2cm2 ). A cumulative maximum area reduction of 406.9cm2 could be achieved. We evaluated 363 surgical sites (123 children) on all body regions. The median age of the children at the first surgery was 3.5months (0.46-10.7months). Complications occurred in 2.3% (seven procedures). All these complications were reversible in the course of the operation and did not lead to a prolonged hospital stay. No anaesthesia-related complications occurred. We were able to show that a reduction of large areas of congenital nevi is possible in the first year of life with the combination of serial excisions using powerstretching technique, TLA, and intracutaneous butterfly sutures.

How Long Should We Keep Children’s Surgical Sites Dry? The Incidence of Infection and Dehiscence After Pediatric Office Procedures

Objective: Studies evaluating the relationship between bathing and adverse surgical site events are sparse. In this study, we examine the incidence of surgical site infection (SSI) and dehiscence in a cohort of pediatric patients who were allowed to bathe 24 hours after their office procedures. Methods: Pediatric patients who underwent office procedures by a single plastic surgeon from 2017 to 2021 were included. All patients were allowed to bathe 24 hours after their office-based skin procedure. Age, sex, procedure type, pre procedure diagnosis, relevant past medical history, instances of dehiscence, and SSI were recorded. Results: 738 pediatric patients were included. Median age was 3.3 years(range 2 months-7 years), 46% were male and 54% were female. The most common pre procedure diagnoses were branchial vestige (24%), melanocytic nevi (21%), polydactyly (15%), congenital non-neoplastic nevus (11%), cyst (9%), hypertrophic scar (8%), and hemangioma(5%). No patients received systemic antibiotics post-procedurally. Six instances of dehiscence were recorded, and no SSIs were seen in any of the 738 patients. Conclusions: The low dehiscence rate and lack of SSIs in our cohort supports the hypothesis that children can bathe normally 24 hours after office procedures without adverse consequences. This recommendation can reduce the burden of post procedure wound care by reducing the length of time patients have to modify their bathing routines.

Handy locoregional flaps for nasal reconstruction

BackgroundSkin lesions on the nose are common. Multiple surgical techniques have been used for nasal reconstruction. These options may be autogenous or alloplastic and can be performed in single or multiple stages. The choice of coverage depends on the nature of the lesion, location on the nose, and available donor sites. This study aimed to evaluate the surgical outcomes of using locoregional flaps for nasal reconstruction. MethodsA total of 27 patients underwent surgery. There were 9 men and 18 women, aged 7 months to 93 years. Four patients presented with involuting hemangioma, five patients with ischemic necrosis of the columella, and five patients with congenital nevus; the remaining 13 patients were previously diagnosed with basal cell carcinoma. Six techniques have been described for nasal reconstruction at our institution from 2016 to 2020. Most patients had basal cell carcinoma (n=13). Locoregional flaps and primary sutures were used for nasal reconstruction. ResultsThe complications were minimal. One patient had a superficial infection and one experienced postoperative bleeding. No recurrence was observed, and none of the patients asked for a second opinion. ConclusionRadical excision of tumors combined with analysis of nasal defects and nearby donor sites is essential for nasal reconstruction. The use of locoregional flaps leads to consistent and good aesthetic outcomes.

A Rare Case of Giant Congenital Melanocytic Nevi: A Case Report

Background: Giant congenital melanocytic nevi are often characterised as melanocytic lesions present at birth. It is thought that it affects 1 in 20,000 births. The lesion is significant because it may be associated with serious consequences, such as malignant melanoma, and may also result in neurological deficits, such as neurocutaneous melanocytosis. This study aimed to present the case of giant congenital melanocytic nevus as a rare case.&#x0D; Case presentation: This study reported a 14-year-old female reported with large blackish rough spots on the trunk that were neither itchy or painful since birth. The patient had no previous history of convulsions, headaches, or vomiting. Plaque hyperpigmentation, macula hyperpigmentation, and hypertrichosis were found on the trunk. Dermoscopy show reveals brown-black homogeneity. Histopathology examination reveals brown-pigmented nevus cells distributed diffusely, with some nevus cells surrounding adnexa skin.&#x0D; Conclusion: Regular examination is essential to monitor the possibility of neurocutaneous melanosis and malignant melanoma development.

PRAME Immunohistochemical Expression and TERT Promoter Mutational Analysis as Ancillary Diagnostic Tools for Differentiating Proliferative Nodules From Melanoma Arising in Congenital Nevi.

Proliferative nodules (PNs) are benign melanocytic proliferations that typically develop within congenital melanocytic nevi. These tumors have overlapping histological features with melanoma. Ancillary immunohistochemistry and genomic sequencing are often used in diagnostically challenging cases. To assess the utility of preferentially expressed antigen in melanoma (PRAME) immunoreactivity and telomerase reverse transcriptase (TERT) promoter mutation analysis in distinguishing PNs from melanoma arising in congenital nevi cases. Twenty-one PNs and 2 melanomas arising in congenital nevi were immunohistochemically stained with PRAME. Cases with adequate tissue were also assessed for TERT promoter mutations through sequencing studies. The positivity rates in the PN cases were compared with those of the melanomas. Two of 21 PN cases were diffusely positive for PRAME (≥75% of the tumor cells positive). Two of 2 melanomas arising in congenital nevus cases were also diffusely PRAME positive. The difference was statistically significant using a Fisher exact test. None of the tumors harbored TERT promoter mutations. PRAME immunohistochemical marker may have diagnostic value in distinguishing diagnostically challenging PNs from melanoma, but diffuse expression is not specific for melanoma.

Diagnosis and treatment of benign eyelid tumors

Benign tumors of the eyelids are frequent entities. They are often cause for cosmetic concern or can lead to irritation of the ocular surface. The differentiation from premalignant or malignant eyelid tumors is particularly important. In most cases this can be done clinically; however, in some cases histological evaluation is warranted. The aim of this article is to characterize the most important benign tumors of the eyelid and to ascertain when a histological examination is necessary. Furthermore, fundamental treatment procedures are discussed. This narrative review was prepared based on aselective literature search. The characteristics of some eyelid tumors are underlined with illustrations from clinical cases. Most benign eyelid tumors are treated because of cosmetic or functional concerns. Some of them, including actinic keratosis, keratoacanthoma, cutaneous horn, trichofolliculoma, resemble malignant lid tumors or precancerous lesions and are thus excised in oder to obtain a diagnosis. Dermoid cysts can cause complications and congenital melanocytic naevi can exhibit malignant transformation and may need treatment. Inflammatory tumors can be treated conservatively in most cases but might require surgery in certain cases. Systemic associations exist with some of the benign lid tumors and should not be overlooked as they can be crucial for overall patient morbidity. Benign tumors of the eyelids are frequent and can be found at any age depending on the diagnosis. This article describes the lesions most commonly encountered in the clinical routine and helps at making a plan for further management.

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 [...]

Congenital melanocytic nevus of the eyelids: divided by borders, united by color

Congenital melanocytic nevus of the eyelid, also known as the “panda nevus of the eyelid,” is a rare presentation of a congenital nevus. It presents as a divided lesion over the upper and lower eyelids. We describe a case of a 25-year-old female who presented to us with this lesion over the right upper and lower eyelids who underwent surgical excision with a full-thickness graft for the residual defect.

Providing new insights into the causes of large-to-giant congenital melanocytic naevi.

Providing new insights into the causes of large-to-giant congenital melanocytic naevi.

Malignant Melanoma within a Giant Congenital Melanocytic Nevus in a Pediatric Patient

While giant congenital melanocytic nevi are rare lesions in the pediatric population, malignant transformation within these lesions remains even more rare. A 22-month-old male patient developed a 6.5 mm Clark’s Level IV melanoma within a giant congenital nevus with an activating NRAS variant. The need for frequent surveillance and screening of giant congenital melanocytic nevi is essential to identify early signs of melanoma, even in the pediatric population.

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.