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We described an unusual combination of fibroblastic connective nevus (FCTN) already present at birth with underlying vascular anomalies. Overall, the lesion appeared as a large purplish-brown mass in the groin region up to the third of the right thigh, with partial spontaneous regression during the first three months of life. The FCTN observed exhibited several unusual characteristics: it was congenital, large in size, and located in the lower limbs. Finally, it represented the first case described in which an FCTN arose in association with vascular anomalies.
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Nevo , Neoplasias Cutâneas , Humanos , Neoplasias Cutâneas/patologia , Nevo/patologia , Malformações Vasculares/patologia , Masculino , Feminino , Recém-Nascido , LactenteRESUMO
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.
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Nevo , Neoplasias Cutâneas , Masculino , Adulto , Feminino , Humanos , Criança , Adulto Jovem , Estudos Retrospectivos , Dermoscopia , Diagnóstico Diferencial , Microscopia Confocal , Neoplasias Cutâneas/patologia , Nevo/diagnósticoRESUMO
Neurotropic melanoma is a rare type of malignant melanoma with nerve invasion or neural differentiation. Neurocristic cutaneous hamartoma is a rare, benign tumor of the skin and superficial soft tissue that arises from aberrant migration of neural crest cells. We report a rare case of a 74-year-old man with a clinically diagnosed giant congenital nevus of the right mid-back, histopathologically confirmed to be a neurocristic cutaneous hamartoma, who developed neurotropic spindle cell melanoma within the lesion. The patient was treated with serial re-excisions until clear margins were achieved.
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Hamartoma , Melanoma , Nevo Pigmentado , Dermatopatias , Neoplasias Cutâneas , Masculino , Humanos , Idoso , Neoplasias Cutâneas/patologia , Melanoma/patologia , Nevo Pigmentado/patologia , Hamartoma/patologia , Dermatopatias/patologia , Melanoma Maligno CutâneoRESUMO
BACKGROUND: High-risk congenital melanocytic nevi (CMN) are associated with abnormalities of the central nervous system (CNS), prompting magnetic resonance imaging (MRI) screening guidelines. OBJECTIVE: Describe MRI brain and spine abnormalities in children with CMN and report trends between nevus features, MRI findings, and neurologic outcomes. METHODS: Retrospective review of individuals aged ≤18 years with an MRI of the brain and/or spine and at least 1 dermatologist-diagnosed CMN. RESULTS: Three hundred fifty-two patients were identified. Forty-six children had CMN that prompted an MRI of the brain and/or spine (50% male, average age at first image, 354.8 days). In these children, 8 (17%) had melanin detected in the CNS, of whom all had >4 CMN. One developed brain melanoma (fatal). In patients without CNS melanin, 4 had concerning imaging. Concerning MRI patients had more neurodevelopmental problems, seizures, neurosurgery, and death than individuals with unremarkable imaging. Three hundred six patients received MRIs for other reasons; none detected melanin. No children with only multiple small CMN (n = 15) had concerning imaging. LIMITATIONS: Lack of a control group, cohort size, and retrospective methods. CONCLUSION: MRI of the brain and spine is useful for detecting intervenable abnormalities in high-risk children. Healthy infants with few small CMN may not require screening MRI.
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Melanose , Nevo Pigmentado , Nevo , Neoplasias Cutâneas , Encéfalo/diagnóstico por imagem , Criança , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Melaninas , Melanose/patologia , Nevo/patologia , Nevo Pigmentado/patologia , Estudos Retrospectivos , Neoplasias Cutâneas/diagnósticoRESUMO
Spotted grouped pigmented nevus is a distinct form of non-giant congenital melanocytic nevi. Histopathologically, it tends to proliferate around the skin appendages. We report a case of a 10-year-old boy with clinical and pathological findings consistent with the diagnosis of spotted grouped pigmented nevus of more than 20 cm diameter, which is considered giant.
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Melanócitos/patologia , Melanoma/prevenção & controle , Nevo Pigmentado/diagnóstico , Neoplasias Cutâneas/patologia , Biópsia/métodos , Criança , Diagnóstico Diferencial , Seguimentos , Humanos , Masculino , Melanoma/patologia , Nevo Pigmentado/congênitoRESUMO
A 3.5-month-old boy presented with a changing medium-sized congenital melanocytic nevus on his leg. Due to atypical features on dermoscopy and reflectance confocal microscopy (RCM), an excision of the area of concern was performed. Histopathology showed many of the pathological features usually associated with a diagnosis of melanoma in situ in older patients, but due to the young age of the patient, absence of mitoses, and the degree of atypia, a diagnosis of a dysplastic compound nevus arising in a congenital compound (predominantly dermal) nevus was favored. In our case, RCM corresponded to histopathology helped target the area of concern and map the clinical and subclinical components to facilitate an optimal biopsy.
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Nevo Pigmentado , Idoso , Criança , Humanos , Lactente , Microscopia ConfocalRESUMO
Melanoma in giant congenital nevus (M-GCN) is a rare and potentially lethal neoplasm. In children, M-GCN appears as a dermal/deep-seated melanoma (DDM-GCN) with histopathologic features difficult to distinguish from proliferative nodules (PNs-GCN). DDM-GCN in adults is an anecdotal entity and only 8 cases have been described and genetically characterized. We report the first case of DDM-GCN in a 34-year-old man characterized with a large-panel next-generation sequence (NGS) highlighting a TP53 mutation with a UV-signature (C>T substitution) in DDM but not in PNs-GCN and GCN. Curiously, DDM showed an aberrant p16 overexpression without detection of CDKN2A mutation at NGS. In line with previous studies, it supports a different pathway in children and adults: UV-induced mutations may be involved in the latter not only by CDKN2A but also by TP53 mutations, with a potentially confusing overexpression of p16 protein. While these data need to be confirmed in larger cases series, our results show that NGS could be an additional genetic diagnostic tool in DDM-GCN.
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Sequenciamento de Nucleotídeos em Larga Escala/métodos , Melanoma/genética , Nevo Pigmentado/genética , Neoplasias Cutâneas/genética , Proteína Supressora de Tumor p53/genética , Adulto , Biópsia , Inibidor p16 de Quinase Dependente de Ciclina/genética , Derme/patologia , Feminino , Humanos , Imuno-Histoquímica/métodos , Linfonodos/patologia , Masculino , Melanoma/diagnóstico , Melanoma/patologia , Melanoma/cirurgia , Mutação , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/patologia , Nevo Pigmentado/cirurgia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgia , Adulto JovemRESUMO
We report a case of nevus cell aggregates (NCAs) in an external iliac lymph node from a patient with a compound congenital nevus in the corresponding drainage skin. Melanocytes in parenchyma were in band, nest-like or nodular fashion, and partly continuous with those in capsule and trabeculae. The largest nodule in parenchyma measured 6.5 mm. Melanocytes mostly exhibited benign appearance identical to cutaneous nevus. A few regions abundant in cells displayed atypical features, including increased nucleo-cytoplasmic ratio, small nucleoli, and occasional mitotic figures. Immunohistochemistry showed that melanocytes stained positive for p16, but negative for HMB-45 and nestin. Ki-67 labeling was less than 1% and reticulin mainly surrounded individual melanocytes. Besides, Vysis melanoma fluorescence in situ hybridization (FISH) plus another 2 probes targeting 9p21(CDKN2A) and 8q24(MYC) showed normal results. The patient is alive without malignant tumor after 52-month follow up. Our case provides a new evidence for the existence of intraparenchymal NCAs in deep lymph node and indicates that melanocytes with some atypical features can occur in nodal nevi. Nevus cells in parenchyma connected to those in capsule and trabeculae are a significant clue to distinguish nodal nevi from metastatic melanomas. Additionally, immunohistochemistry and FISH assay are useful in differential diagnosis.
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Ílio/patologia , Linfonodos/patologia , Melanócitos/patologia , Nevo Pigmentado/patologia , Adolescente , Adulto , Idoso , Agregação Celular , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Imuno-Histoquímica/métodos , Hibridização in Situ Fluorescente/métodos , Metástase Linfática/diagnóstico , Metástase Linfática/patologia , Masculino , Melanócitos/metabolismo , Melanoma/diagnóstico , Melanoma/secundário , Pessoa de Meia-Idade , Nevo/patologia , Nevo Pigmentado/congênito , Nevo Pigmentado/ultraestrutura , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/secundário , Melanoma Maligno CutâneoRESUMO
INTRODUCTION: Neonatal and infantile malignant melanoma is rare. It may be difficult to diagnose and often carries a poor prognosis. MATERIAL AND METHODS: We decided to review the data on congenital, neonatal and infantile malignant melanomas in order to understand their presentation (clinical, histological, molecular), diagnosis, management and outcomes. We performed a literature search of all cases of early-onset melanoma published in PubMed from its inception to March 2019 using the following keywords: "malignant melanoma" OR "melanoma" OR "pigmented nevus" OR "malignant pigmented" AND "infantile" OR "congenital" OR "children" OR "childhood" OR "infancy" OR "neonatal". Congenital melanoma associated with maternal-foetal transmission was not included in the study. RESULTS: Sixty-five articles were selected and 85 cases were included in the study. Most patients were male (sex ratio: 1.6). The average age at diagnosis was 5.5 months (minimum-maximum: 0-24 months). The main site reported for congenital melanoma was the head-and-neck area and for neonatal and infantile melanoma the trunk. Half of all patients had a metastatic disease at the time of diagnosis. In metastatic cases, the prognosis was poor with the exception of patients undergoing complete excision of the tumour and metastases. The main treatment for cutaneous melanomas and operable metastasis was surgery, and secondarily, chemotherapy/immunotherapy. CONCLUSION: Neonatal and infantile malignant melanoma are rarely reported and not well-documented. It is necessary to collect additional cases to improve our knowledge of this rare disease.
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Melanoma , Nevo Pigmentado , Neoplasias Cutâneas , Criança , Humanos , Imunoterapia , Recém-Nascido , Masculino , Melanoma/diagnóstico , Melanoma/terapia , Prognóstico , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/terapiaRESUMO
INTRODUCTION: Congenital and infantile melanomas are extremely rare. We report a case of a child presenting at birth with a giant congenital nevus complicated by melanoma and on long-term follow-up with exploration using new immunohistochemistry and molecular biology tools. OBSERVATION: A new-born girl presented at birth with a large congenital cervico-mandibular tumour with para-pharyngeal extension and underlying osteolysis. At 7 months, histology and immunohistochemistry of the operative specimen revealed nodules with atypical features (mitotic figures, necrosis and positive expression of KI67 and P53 in approximatively 50 % of the melanocytic nuclei). A diagnosis was made of infantile melanoma associated with congenital nevi. Repeated surgery and monitoring (clinical and imaging) were performed. At the age of 7 years, as there was no evidence of metastatic lesions, further analyses were performed on the initial operative specimen. Investigation of transcription factor expression using immunohistochemistry, comparative genomic hybridization and histology-guided mass spectrometry, although suspect, did not in itself support a diagnosis of melanoma. Finally, at the age of 7 years, hepatic and pulmonary metastases were reported. Despite combined immunotherapy with ipilimumab and nivolumab, the child died 5 months later. CONCLUSION: This case illustrates the complexity of diagnosis of infantile melanoma and the risk of metastatic involvement long after the initial diagnosis. Diagnosis may be difficult and necessitates expert advice and the application of several recent methods to reach a conclusion and initiate appropriate treatment.
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Melanoma , Nevo Pigmentado , Neoplasias Cutâneas , Biomarcadores Tumorais/genética , Criança , Hibridização Genômica Comparativa , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Recém-Nascido , Melanoma/diagnóstico , Melanoma/genética , Nevo Pigmentado/diagnóstico , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genéticaAssuntos
Melanose , Síndromes Neurocutâneas , Nevo Pigmentado , Neoplasias Cutâneas , Humanos , Lactente , Nevo Pigmentado/diagnóstico por imagem , Nevo Pigmentado/congênito , Neoplasias Cutâneas/diagnóstico por imagem , Neoplasias Cutâneas/congênito , Imageamento por Ressonância Magnética , Melanose/patologiaRESUMO
Nevus spilus is a melanocytic neoplasm characterized by a tan macular background punctuated by multiple hyperpigmented macules or papules that represent various types of nevi. These include junctional and compound nevi, Spitz nevi, and rarely blue nevi. We report a unique case of widespread, multiple nevi spili giving rise to agminated Spitz nevi and congenital-pattern compound nevi. We performed genetic analysis to further characterize the mutational profile of this rare entity.
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Nevo de Células Epitelioides e Fusiformes/genética , Nevo Pigmentado/genética , Neoplasias Cutâneas/genética , Adolescente , Análise Mutacional de DNA , Feminino , Humanos , Nevo de Células Epitelioides e Fusiformes/congênito , Nevo de Células Epitelioides e Fusiformes/patologia , Nevo Pigmentado/congênito , Nevo Pigmentado/patologia , Proteínas Proto-Oncogênicas p21(ras)/genética , Neoplasias Cutâneas/congênito , Neoplasias Cutâneas/patologiaRESUMO
Dermal melanocytosis refers to a spectrum of benign melanocytic proliferations that includes Mongolian spot, nevus of Ota and nevus of Ito. These lesions most commonly occur in persons of Asian or African descent and are often present at birth or develop during childhood. Very rarely, dermal melanocytoses undergo malignant transformation. There have been only 13 reports in the literature of primary cutaneous melanoma arising in dermal melanocytoses. We report a case of a Chinese woman with melanoma arising in a congenital nevus of Ito. We performed targeted next-generation sequencing of the tumor which revealed mutations of GNAQ and BAP1, suggesting that alterations in these two genes led to malignant transformation of the nevus of Ito. We also provide a summary of reports in the literature regarding primary cutaneous melanoma arising in the context of dermal melanocytosis.
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Transformação Celular Neoplásica/genética , Melanoma/genética , Mutação , Nevo Pigmentado/genética , Neoplasias Cutâneas/genética , Adolescente , Adulto , Idoso , Feminino , Subunidades alfa Gq-G11 de Proteínas de Ligação ao GTP/genética , Predisposição Genética para Doença , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Melanócitos/patologia , Melanoma/patologia , Pessoa de Meia-Idade , Nevo Pigmentado/patologia , Neoplasias Cutâneas/patologia , Proteínas Supressoras de Tumor/genética , Ubiquitina Tiolesterase/genética , Adulto Jovem , Melanoma Maligno CutâneoRESUMO
A 37-year-old pregnant woman presented with a 2-cm irregular reddish nodule on her left upper arm during pregnancy. A biopsy from the lesion showed a 2.2-mm thick malignant melanoma with intravascular invasion, 25 mitosis/mm(2) and no ulceration. Following induction of labor, the patient underwent re-excision with sentinel lymph node biopsy. This showed no residual melanoma and no lymph node metastasis. The newborn boy had multiple pigmented lesions on the trunk, some of which were large and irregular. Two were biopsied and histologic examination showed dense dermal proliferation of medium sized melanocytes with multiple mitotic figures and no maturation with their descent into the dermis, raising suspicion of transplacental metastases. Examination of the placenta failed to show metastatic lesions. Multiplex polymerase chain reaction (PCR)-based genotyping, including testing for amelogenin locus for sex chromosome determination, demonstrated the presence of Y chromosome material in the melanocytes of the newborn's lesions excluding maternal origin. A diagnosis of congenital nevi was rendered. Subsequently, Imaging Mass Spectrometric analysis of the mother's lesion showed proteomic signature expression indicative of malignant melanoma, whereas the two lesions in the newborn showed changes indicative of nevi. This case demonstrates the utility of genotyping and Mass Spectrometry analysis in this challenging clinical scenario.
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Melanoma/congênito , Nevo Pigmentado/congênito , Complicações Neoplásicas na Gravidez/patologia , Cromossomos Sexuais , Neoplasias Cutâneas/patologia , Adulto , Feminino , Seguimentos , Humanos , Recém-Nascido , Masculino , Espectrometria de Massas/métodos , Melanoma/genética , Melanoma/patologia , Metástase Neoplásica , Nevo Pigmentado/genética , Nevo Pigmentado/patologia , Placenta/patologia , Gravidez , Biópsia de Linfonodo Sentinela , Neoplasias Cutâneas/genética , Melanoma Maligno CutâneoRESUMO
Extensive cytogenetic testing is slowly unveiling the complexity of the genomics of melanocytic tumors. NRAS mutations have been the first genetic abnormality described in malignant melanomas. We report the cases of two children, presenting a melanocytic lesion located on the ear. One appeared as a combined dermal clone inside a congenital nevus and the other as a centimetric purely dermal tumor. Both tumors were composed of spindled spitzoid melanocytes with atypical histologic features. aCGH and FISH revealed an amplification of the NRAS gene. Sequencing showed an exon 3 NRAS mutation. In the combined case, the amplification was limited to the spitzoid component, underscoring a possible phenotypic shift induced by the alteration. Similarly an overexpression of CyclinD1 and elevation of ki-67 was found in the spitzoid component confirming a raise in proliferation. Such combination of mutation and copy number increase has been previously reported for the HRAS gene in a subset of Spitz nevi. Further studies must evaluate if mutated NRAS is also amplified in melanomas arising in this clinical setting. These combined alterations could represent an early event ultimately leading to malignancy.
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Orelha/patologia , GTP Fosfo-Hidrolases/genética , Proteínas de Membrana/genética , Mutação , Nevo de Células Epitelioides e Fusiformes/genética , Neoplasias Cutâneas/genética , Criança , Hibridização Genômica Comparativa , Feminino , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Masculino , Nevo de Células Epitelioides e Fusiformes/patologia , Neoplasias Cutâneas/patologiaRESUMO
Palmar congenital nevus with sclerodermoid reaction has not been reported. It has the potential of deep extension following the fibrous bundle. The utilization of slow Mohs or frozen sections with immunohistochemistry staining was recommended.
RESUMO
Giant congenital nevi, especially on the head and neck, pose a challenge for plastic surgeons. This requires extensive experience in detailed planning, combining different techniques, and selecting appropriate materials for reconstruction. There have been reports of using a tissue expander, serial resection method, and full-thickness skin grafts for this type of nevus. However, the best way to completely remove a giant congenital nevus is endless. In this article, we would like to present a case of a left hemifacial giant congenital nevus in which we used multiple tissue expansion to fully replace the nevus, along with some of our modification techniques.
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This article is a selection of the most significant developments in the field of pediatric dermatology through an analysis of the articles published between October 2012 and October 2013. In the field of vascular anomalies, propranolol remains a topic of interest for infantile hemangiomas. New clinical concepts appear in the field of vascular malformations in parallel to genetic progress in this area. New epidemiological data or new pathophysiological concepts apply to atopic dermatitis. Congenital or atypical nevi of the child benefit from genetic progress or improvement of clinical knowledge. Although rare, melanoma of the child concerns by its increasing incidence and its misleadingclinical characteristics. Other data reported here relate to infectious skin of the child, morpheas, neurofibromatosis type 1, psoriasis and other commonly seen dermatoses in children.
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Dermatopatias , Adolescente , Criança , Dermatite Atópica/tratamento farmacológico , Dermatologia/tendências , Hemangioma Capilar/tratamento farmacológico , Humanos , Melanoma/epidemiologia , Síndromes Neoplásicas Hereditárias/tratamento farmacológico , Nevo/congênito , Nevo/genética , Pediatria/tendências , Propranolol/uso terapêutico , Psoríase/epidemiologia , Dermatopatias/congênito , Dermatopatias/diagnóstico , Dermatopatias/terapiaRESUMO
BACKGROUND: The indication for surgical management and histological diagnosis of melanocytic nevi in children is a major challenge in clinical routine. In consultations with children and parents, the exclusion of malignant findings, on the one hand, and the risk of complications, on the other hand, are important. PATIENTS AND METHODOLOGY: Included were 946 children under the age of 10 years who underwent surgery with a suspected diagnosis of melanocytic nevus at the University Department of Dermatology, Tübingen, Germany, between 2008 and 2018. Dermatohistopathologic findings and postoperative complications were recorded. RESULTS: A clinical diagnosis of melanocytic nevus was histologically confirmed in 93.2% (882/946) of cases, whereby there were 41 Spitz nevi and 18 pigmented spindle cell tumors. Melanoma was diagnosed in 2 of the children (0.2%). In another 6.6%, non-melanocytic findings (e.g., nevus sebaceous, epidermal nevi) were diagnosed. The complication rate was low at 3%. The most common complication was the occurrence of postoperative wound infection in 1.7%. CONCLUSION: It is possible to take a biopsy or surgically remove congenital nevi of different sizes even in infants. Serial excision of congenital nevi is an important tool for this purpose. In the investigated cohort, the complication rate was low. Histological confirmation is essential in case of clinically suspicious or atypical findings.
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Nevo de Células Epitelioides e Fusiformes , Nevo Pigmentado , Nevo , Neoplasias Cutâneas , Lactente , Humanos , Criança , Diagnóstico Diferencial , Nevo/cirurgia , Neoplasias Cutâneas/cirurgia , Nevo Pigmentado/cirurgia , Nevo de Células Epitelioides e Fusiformes/complicaçõesRESUMO
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.