Melanoma arising in a child with a medium-sized congenital melanocytic nevus.

Pediatric melanomas are rare and some of them may arise on giant congenital melanocytic nevi. The risk of developing melanoma on a medium-sized nevus is not clear but is thought to be very rare. Proliferative cellular nodules which mimic malignant melanoma may pose significant diagnostic challenges. We report the case of a 9-year-old patient who developed a melanoma on a medium-sized congenital melanocytic nevus on the tip of the nose, requiring a complex surgery with excellent aesthetic results.

Los melanomas en pediatría son raros y algunos de ellos pueden surgir sobre nevos melanocíticos congénitos gigantes. El riesgo de desarrollar melanoma en un nevo de tamaño mediano no está claro, pero se cree que es muy raro. Los nódulos proliferativos celulares, que imitan al melanoma, pueden plantear importantes desafíos diagnósticos. Presentamos el caso de una paciente de 9 años que desarrolló un melanoma sobre un nevo melanocítico congénito de tamaño mediano en la punta de la nariz, que requirió un procedimiento quirúrgico complejo con excelentes resultados estéticos.

Dermoscopic monitoring of pediatric melanocytic nevi regarding pattern and diameter changes.

BACKGROUND: Childhood and adolescence are dynamic period in terms of nevogenesis, and the development and growth of new melanocytic nevus are frequently observed. In this study, the aim was to examine the pattern and diameter changes seen in the follow-up of pediatric melanocytic nevus. OBJECTIVES: To describe the pattern and diameter changes seen in the follow-up of pediatric melanocytic. METHODS: Our study involved the assessment of 301 pediatric melanocytic nevi in 50 patients attended at the Dermatology Clinic of Istanbul Training and Research Hospital between January 2008 and 2022. The pediatric melanocytic nevi were diagnosed clinically and dermoscopically. Subsequently, we conducted video-dermoscopic monitoring of these nevi over a span of 3 months to 3 years. RESULTS: 46% of our patients were female (n = 23), with a mean age of 11.5 years. While the pattern of nevi was globular in 40% patients, the rate of globular pattern decreased to 30% in the follow-up. The basal homogeneous nevus pattern was seen in 10% patients, but was detected in 13.9% in the follow-up. Peripheral globules were observed in 19.3% of the cases, but in the follow-up, 61.1% of the globules regressed completely. Nevus excision was indicated in only 11 of 301 nevi. STUDY LIMITATIONS: Single-center study and a small of studies available on this subject. CONCLUSIONS: Pediatric melanocytic nevi can show dynamic changes compared to nevi in adults. In this study, growth rates, dermoscopic features, and pattern changes seen in the follow-up of melanocytic nevi were evaluated. The globular pattern was observed most frequently. The presence of peripheral globules is frequently observed in pediatric melanocytic nevi with regression during the follow-up period.

Neoumbilicoplasty with vertical island pedicle flap for a large pigmented umbilical nevus / Neoumbilicoplastia mediante plastia pediculada en isla por gran nevus pigmentado del ombligo

Introduction: The umbilicus is a unique physiologic scar of human body. Its absence leads to an unnatural abdominal appearance and can cause psychological and social complexes. Objective: To present a case of neoumbilicoplasty with vertical island pedicle flap for a large pigmented umbilical nevus. Clinical case: A healthy 50-year-old female patient with a history of a pigmentated nevus on the umbilicus since childhood that complains of changes in size and color of it. She also referred notice a lump in the upper umbilical region which was an umbilical hernia. The patient underwent an omphalectomy with oncological margins, an umbilical hernia repair and a neoumbilicoplasty with vertical island pedicle flap. Seroma was the only postoperative complication. Aesthetic results were acceptable and satisfied the patient. Conclusions: This is a rare case not only because the umbilical skin lesions are uncommon but the neoumbilicoplasty technique is rarely used(AU)

Introducción: El ombligo es la única cicatriz fisiológica del cuerpo humano. Su ausencia provoca un aspecto abdominal antinatural y puede provocar complejos psicológicos y sociales. Objetivo: Presentar un caso de neoumbilicoplastia con colgajo pediculado vertical en isla para un nevo umbilical pigmentado de gran tamaño. Caso clínico: Paciente femenina sana de 50 años con antecedentes de nevo pigmentado en ombligo desde la infancia, que refiere cambios en el tamaño y color de este. También refirió notar un bulto en la región umbilical superior que era una hernia umbilical. La paciente fue sometida a onfalectomía con márgenes oncológicos, reparación de la hernia umbilical y neoumbilicoplastia con colgajo pediculado vertical en isla. El seroma fue la única complicación postoperatoria. Los resultados estéticos fueron aceptables y satisficieron a la paciente. Conclusiones: Es un caso raro, no solo porque las lesiones cutáneas umbilicales son poco comunes, sino que la técnica de neoumbilicoplastia, rara vez se utiliza(AU)

Choroidal nevus through a broader vision: Retinal imaging acquisition captured with Broad Line Fundus Imaging technology.

OBJECTIVE: To describe the peculiarities in imaging acquisition of fourteen patients with choroidal nevus using the Broad Line Fundus Imaging (BLFI) technology. METHODS: Single-center, retrospective, cross-sectional analysis. RESULTS: All images were acquired using the BLFI technology. We have found that choroidal nevus is undetectable in the blue channel (BC) (435-500 nm) and the green channel (GC) (500-585 nm). The only visible changes are related to the drusen, which appeared in BC and GC as light focal dots, correlated to the yellowish foci in the true-color image. On the red channel (RC) (585-640 nm), all lesions revealed the same pattern: a well-defined dark spot, with enhanced contrast, allowing the better visualization, measuring, and characterization of the nevus when compared with the other color channels, including the true-color imaging. CONCLUSION: BLFI application in choroidal nevus might be helpful at presentation, refining the diagnostic reliability, and monitoring, as it allows for better detection of alterations in the lesions. The peculiarities of the choroidal nevus are better assessed when using the RC due to its longer wavelength and deeper penetration in the retina and choroid.

Incontinencia pigmenti. progresión clínica y diagnóstico de un caso / Incontinentia pigmenti. clinical progression and diagnosis of a case

Resumen La incontinencia pigmenti(IP) es una genodermatosis infrecuente ysistémica del neuroectodermo que involucra la piel, el sistema nervioso central, los ojos y los dientes, entre otros. Los signos clínicos dermatológicos constituyen el principal criterio diagnóstico, debido a que suelen ser los primeros en manifestarse. Se describen cuatro estadios característicos de la enfermedad según las lesiones cutáneas predominantes. No obstante, su pronóstico depende de los signos y síntomas extracutáneos. El diagnóstico se centra en criterios clínicos, histopatológicos y/o genéticos. Visto que no existe una terapéutica específica, la atención médica de esta enfermedad es multidisciplinaria y sintomática, y debe acompañarse del asesoramiento genético a los afectados y sus familiares. Presentamos el caso de una niña, nacida a término completo, quien presentó un cuadro clínico compatible con incontinencia pigmenti, del cual detallamos su progresión clínica, diagnóstico y seguimiento.

Abstract Incontinentiapigmenti is a rare and multisystemic,neuroectodermal genodermatosis that involves the skin, central nervous system, eyes and teeth, among others. Dermatological clinical signs are the main diagnostic criteria because they are usually the first to manifest. Four characteristic stages of the disease are described according to the predominant skin lesions. Nonetheless, prognosis depends on extracutaneous clinical signs and symptoms. Diagnosis is based on clinical, histopathological and/or genetic criteria. Considering there is no specific treatment available, the management of this disease is multidisciplinary and symptomatic, and must be accompanied by genetic counseling for those affected and their families. We present in a full-tern newborn femalethat presented with a clinical picture compatible with incontinentiapigmenti, and we will detail the clinical progression, diagnosis, and follow-up.

Cobb Syndrome Associated with Spinal Cavernoma ­ Case Report / Síndrome de Cobb associada a cavernoma medular ­ Relato de caso

Cobb syndrome, or cutaneomeningospinal angiomatosis, is a rare condition that affects young adults, and its etiology has not been completely elucidated. It is characterized by a cutaneous sign, or stigma, associated with spinal or intracranial malformations. The symptoms are quite diverse, but, in most cases, the disease presents motor deficit and pain. The present study reports the case of a 48-year-old female patient, who initially sought dermatological medical care for a single skin lesion in the posterior cervical region. During the excision, it was noticed that the lesion had contiguous behavior to the deep anatomical planes, thus requiring the evaluation of the neurosurgical team. The purpose of this report is to describe this rare disease, covering more details about diagnosis and therapy.

Síndrome de Cobb, ou angiomatose cutâneo-meningo-espinhal, é uma condição rara que afeta adultos jovens, e sua etiologia não foi completamente elucidada. Caracterizase por um sinal cutâneo, ou estigma, associado a malformações espinhais ou intracranianas. Os sintomas são bastante diversos, mas, na maioria dos casos, a doença apresenta déficit motor e dor. O presente estudo relata o caso de uma paciente do sexo feminino de 48 anos, que inicialmente procurou atendimento médico dermatológico para uma única lesão cutânea na região cervical posterior. Durante a excisão, notou-se que a lesão apresentava comportamento contíguo aos planos anatômicos profundos, exigindo assim a avaliação da equipe neurocirúrgica. O objetivo deste relatório é descrever essa doença rara, abrangendo mais detalhes sobre diagnóstico e terapia.

Atypical Presentation of Spitz Nevus: A Case Report.

Introduction: The Spitz nevus (SN) is an acquired melanocytic neoplasm composed of epithelioid and/or spindle cells, which tends to develop in childhood. In pediatric patients, it is usually located on the face and neck. Unusual locations have been found in the literature, such as the penis, mouth, and tongue, as well as 2 cases of ungual SN. Case Report: A 15-year-old male evaluated for dark brown-black longitudinal melanonychia that covered 40% of the nail, with pseudo-Hutchinson's sign, of 1 year of evolution. Discussion: The SN accounts for 1% of the melanocytic neoplasms. In the present paper, we show the third case of ungual SN never previously disclosed, which presents a zigzag pattern reported in the literature for its association with the pediatric population.

Multiple Primary Melanoma: A Five-Year Prospective Single-Center Follow-Up Study of Two MC1R R/R Genotype Carriers.

BACKGROUND: Multiple primary melanoma (MPM) is a diagnostic challenge even with ancillary imaging technologies available to dermatologists. In selected patients' phenotypes, the use of imaging approaches can help better understand lesion characteristics, and aid in early diagnosis and management. METHODS: Under a 5-year prospective single-center follow-up, 58 s primary melanomas (SPMs) were diagnosed in two first-degree relatives, with fair skin color, red hair, green eyes, and personal history of one previous melanoma each. Patients' behavior and descriptive demographic data were collected from medical records. The information on the first two primary melanomas (PMs) were retrieved from pathology reports. The characteristics of 60 melanomas were collected from medical records, video dermoscopy software, and pathology reports. Reflectance confocal microscopy (RCM) was performed prior to excision of 22 randomly selected melanomas. RESULTS: From February 2018 to May 2023, two patients underwent a pooled total of 214 excisional biopsies of suspect lesions, resulting in a combined benign versus malignant treatment ratio (NNT) of 2.0:1.0. The number of moles excised for each melanoma diagnosed (NNE) was 1.7:1.0 and 6.9:1.0 for the female and male patient respectively. The in-situ melanoma/invasive melanoma ratio (IIR) demonstrated a higher proportion of in-situ melanomas for both patients. From June 2018 to May 2023, a total of 58 SPMs were detected by the combination of total body skin exam (TBSE), total body skin photography (TBSP), digital dermoscopy (DD), and sequential digital dermoscopy imaging (SDDI) via comparative approach. The younger patient had her PM one month prior to the second and third cutaneous melanomas (CMs), characterizing a case of synchronous primary CM. The male older relative had a total of 7 nonsynchronous melanomas. CONCLUSIONS: This CM cohort is composed of 83.3% in-situ melanoma and 16.7% invasive melanoma. Both patients had a higher percentage of SPM with clinical nevus-like morphology (84.5%), global dermoscopic pattern of asymmetric multiple component (60.3%) and located on the lower limbs (46.6%). When RCM was performed prior to excision, 81% of SPM had features suggestive of malignancy. As well, invasive melanomas were more frequent in the lower limbs (40%). In the multivariate model, for the two high-risk patients studied, the chance of a not associated with nevus ("de novo") invasive SPM diagnosis is 25 times greater than the chance of a diagnosis of a nevus-associated invasive SPM.

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

Abstract Background: A 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. Objective: To identify the proliferative activity and histopathological features correlating them with BRAF V600E gene mutation status in CMN. Methods: CMN 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. Results: The 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 BRAFV600E negative nevi, BRAF V600E positive nevi often exhibited predominantly nested intraepidermal melanocytes, and larger junctional nests, but the difference in this datasets were not statistically significant. The number of nests (p = 0.001) was positively correlated with the proportion of Ki67 positive cells. Study limitations: A small sample of patients were included and there was no follow-up. Conclusions: BRAF V600E gene mutations were associated with high proliferative activity and distinct histopathological features in congenital melanocytic nevi.

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

BACKGROUND: A 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. OBJECTIVE: To identify the proliferative activity and histopathological features correlating them with BRAF V600E gene mutation status in CMN. METHODS: CMN 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. RESULTS: The 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 LIMITATIONS: A small sample of patients were included and there was no follow-up. CONCLUSIONS: BRAF V600E gene mutations were associated with high proliferative activity and distinct histopathological features in congenital melanocytic nevi.

Melanocytic nevus of the anal canal and granular cell tumor of the cecum: a case report and literature review of 2 coincidentally co-occurring neurocristopathies.

Granular cell tumors are predominantly benign soft tissue tumors originating from Schwann cells, whereas melanocytic nevi are benign proliferations of melanocytes. We present the case of a patient with the presence of both entities located in the cecum and anal canal, respectively, constituting an extremely rare coincidental finding. A 43-year-old woman was evaluated by colonoscopy for iron-deficiency microcytic anemia that had lasted for 1 year. Colonoscopy demonstrated a macular lesion of 0.3 cm with a melanocytic appearance in the anal canal; at the cecum level, a subepithelial, yellowish, and partially mobile firm nodular lesion measuring 1.3 cm was observed. A histopathological study showed a melanocytic nevus in the anal canal and a granular cell tumor in the cecum. This is the first reported case of a patient with the extremely rare coincidental-incidental finding of these 2 entities at the same time.

Nevo de Ota bilateral: presentación de un caso de distribución poco frecuente / Bilateral nevus of Ota: an unusual presentation

RESUMEN El Nevo de Ota, es una melanocitosis dérmica que se desarrolla por un defecto embrionario en la migración de los melanocitos desde la cresta neural a la piel y mucosas. Presentamos una paciente de 32 años, con Nevo de Ota bilateral de presentación infrecuente.

ABSTRACT Nevus of Ota is a dermal melanocytosis that develops due to an embryonic defect in the migration of melanocytes from the neural crest to the skin and mucous membranes. We report a 32-year-old female patient with a bilateral nevus of Ota with a rare manifestation due to its unusual distribution.

Focal melanocytic lesions of the oral mucosa: An epidemiological and morphological study.

OBJECTIVE: This study aimed to analyse the clinical and histopathological characteristics of focal oral melanocytic lesions in a Brazilian reference service in Oral and Maxillofacial Pathology. MATERIALS AND METHODS: A cross-sectional study was conducted over an 18-year period. Demographic data and clinical features were collected from the archives, and all biopsy specimens diagnosed as oral melanocytic lesions were retrieved and reviewed. RESULTS: We identified 339 melanocytic lesions. Of these, 191 were melanotic macules, 112 melanocytic nevi, 14 mucosal lentigo simplex, 12 melanomas, 9 solar lentigos, and 1 melanoacanthoma. Lesions occurred mostly in white-skinned (74.2%) women (65.2%). The main reported clinical aspect was the macule (67.4%), and the most affected site was the lip vermilion (25.4%), followed by the palate (22.9%). Melanomas were larger in size and were observed in older patients with an overall shorter time of onset. The most frequent subtypes of melanocytic nevi were intramucosal (44.6%), compound (24.1%), and blue nevus (20.5%). They showed a heterogeneous architectural pattern with the presence of the three cell types. CONCLUSION: The most frequent lesions are melanotic macule and nevus, especially the intramucosal subtype. Patients are usually white-skinned women presenting a small, long-lasting, macular lesion on the lip vermilion or palate.

Quantitative melanoma diagnosis using spectral phasor analysis of hyperspectral imaging from label-free slices.

Introduction: Melanoma diagnosis traditionally relies on microscopic examination of hematoxylin and eosin (H&E) slides by dermatopathologists to search for specific architectural and cytological features. Unfortunately, no single molecular marker exists to reliably differentiate melanoma from benign lesions such as nevi. This study explored the potential of autofluorescent molecules within tissues to provide molecular fingerprints indicative of degenerated melanocytes in melanoma. Methods: Using hyperspectral imaging (HSI) and spectral phasor analysis, we investigated autofluorescence patterns in melanoma compared to intradermal nevi. Using UV excitation and a commercial spectral confocal microscope, we acquired label-free HSI data from the whole-slice samples. Results: Our findings revealed distinct spectral phasor distributions between melanoma and intradermal nevi, with melanoma displaying a broader phasor phase distribution, signifying a more heterogeneous autofluorescence pattern. Notably, longer wavelengths associated with larger phases correlated with regions identified as melanoma by expert dermatopathologists using H&E staining. Quantitative analysis of phase and modulation histograms within the phasor clusters of five melanomas (with Breslow thicknesses ranging from 0.5 mm to 6 mm) and five intradermal nevi consistently highlighted differences between the two groups. We further demonstrated the potential for the discrimination of several melanocytic lesions using center-of-mass comparisons of phase and modulation variables. Remarkably, modulation versus phase center of mass comparisons revealed strong statistical significance among the groups. Additionally, we identified the molecular endogenous markers responsible for tissue autofluorescence, including collagen, elastin, NADH, FAD, and melanin. In melanoma, autofluorescence is characterized by a higher phase contribution, indicating an increase in FAD and melanin in melanocyte nests. In contrast, NADH, elastin, and collagen dominate the autofluorescence of the nevus. Discussion: This work underscores the potential of autofluorescence and HSI-phasor analysis as valuable tools for quantifying tissue molecular fingerprints, thereby supporting more effective and quantitative melanoma diagnosis.

Nevus apocrino puro: una entidad raramente sospechada / Pure apocrine nevus: a rarely suspected entity

Los nevus apocrinos puros son hamartomas de las unidades pilosebáceas caracterizadas por proliferaciones benignas de glándulas apocrinas maduras, la cual es una descripción microscópica realizada en los reportes de patología sin que se nombre el diagnóstico exacto. Considerando además, los diagnósticos diferenciales clínicos y la baja frecuencia de este diagnóstico, presentamos un caso clínico y una revisión del tema

Pure apocrine nevi are hamartomas of the pilosebaceous units characterized by benign proliferations of mature apocrine glands, which is a microscopic description made in pathology reports without the exact diagnosis being named. Considering the clinical differential diagnoses and its low frequency, we present a case report and a review of the literature on this topic

Treatments of palpebral congenital melanocytic nevus: a systematic review

Purpose: Palpebral congenital melanocytic nevi (PCMN) is a rare congenital skin lesion affecting the eyelids that can lead to cosmetic and psychological concerns and potential health risks such as malignancy. Several authors have analyzed therapeutical strategies to treat PCMN. However, there was no consensus in the literature. This systematic review aimed to evaluate the effectiveness, safety, and success of treatments of PCMN. Methods: We conducted a systematic review following PRISMA guidelines from October 2022 to April 2023. We included all types of study designs that described or compared PCMN treatments and interventions, as well as histology, recurrence, adverse events, patient satisfaction, and malignant transformation. The search strategy was based on specific search words through the following databases: PubMed, Embase, Latin American and Caribbean Health Sciences Literature (Lilacs), Web of Science, and Scopus. Ongoing studies and gray literature studies were included. Results: We analyzed 25 case reports with 148 participants. The effectiveness, success, and satisfaction with various treatments for PCMN depend on the specific treatment method and the individual patient's case. Conclusions: Most of the studies showed that surgical procedures (exeresis) are able to treat PCMN in the eyelid. The variability in outcomes emphasizes the importance of further research to better understand the most effective and safe approaches for treating congenital melanocytic nevi.