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Melanoma , Nevo Azul , Couro Cabeludo , Neoplasias Cutâneas , Humanos , Couro Cabeludo/patologia , Melanoma/secundário , Melanoma/patologia , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/secundário , Nevo Azul/patologia , Diagnóstico Diferencial , Masculino , Feminino , Neoplasias de Cabeça e Pescoço/patologia , Neoplasias de Cabeça e Pescoço/secundário , Pessoa de Meia-IdadeRESUMO
BACKGROUND AND AIMS: PKC-fused blue naevi are a recently described group of melanocytic tumours that have distinctive morphological features, including a pigmented epithelioid melanocytoma-like junctional component or a dermal biphasic architecture associating with naevocytoid nests surrounded by dendritic and spindled pigmented melanocytes (so-called 'combined common and blue naevus'). There have been reports of smooth muscle hyperplasia in a hamartoma-like pattern in cases of combined blue naevi without genetic exploration. MATERIALS AND METHODS: Herein, we describe 12 cases of protein kinase C (PKC)-fused blue tumours associated with a co-existing smooth muscle hyperplasia, identified from a total of 98 PKC-fused melanocytic tumours. Archived slides of PKC-fused blue naevi with haematoxylin, eosin and phloxin staining, immunohistochemistry and molecular confirmation of a PKC-fusion by fluorescence in-situ hybridisation (FISH) or RNAseq were re-evaluated for identification of notable smooth muscle hyperplasia. Fifty-one of these slides had already been studied in a previous publication from our group. RESULTS: The hyperplasia ranged from hypertrophic arrector pili muscles to extensive horizontal bundles of disorganised fibres constantly associated and limited within a biphasic dermal melanocytic component. At least one arrector pili muscle was always visible within the tumour, with occasionally direct extension of the hyperplastic fibres from the main muscle body. These muscle fibres were devoid of a PKC-fusion signal by FISH. PKC molecules are involved in the regulation of smooth muscle function, offering an explanatory framework. CONCLUSIONS: These data suggest incorporating smooth muscle hyperplasia as a diagnostic morphological feature of PKC-fused blue melanocytic tumours.
Assuntos
Hiperplasia , Músculo Liso , Nevo Azul , Proteína Quinase C , Neoplasias Cutâneas , Humanos , Hiperplasia/patologia , Proteína Quinase C/genética , Proteína Quinase C/metabolismo , Feminino , Masculino , Adulto , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/genética , Nevo Azul/patologia , Nevo Azul/genética , Nevo Azul/diagnóstico , Músculo Liso/patologia , Pessoa de Meia-Idade , Adolescente , Adulto Jovem , Criança , IdosoRESUMO
INTRODUCTION: Blue rubber bleb nevus syndrome (BRBNS) is an uncommon vascular anomaly characterized by multifocal cutaneous, visceral, and other soft tissue or solid organ venous malformations. We observed that BRBNS lesions express immunohistochemical markers of lymphatic differentiation. METHODS: BRBNS histopathologic specimens assessed at our institution during the past 27 years were reviewed. Slides from 19 BRBNS lesions were selected from 14 patients (9 cutaneous, 9 gastrointestinal, and 1 hepatic). We recorded the involved anatomical compartments and presence/absence of thrombi or vascular smooth muscle. Immunohistochemical endothelial expression of PROX1 (nuclear) and D2-40 (membranous/cytoplasmic) was evaluated semi-quantitatively. RESULTS: Endothelial PROX1 immunopositivity was noted in all specimens; the majority (89.5%) demonstrated staining in more than 10% of cells. D2-40 immunopositivity was present in one-third (33%) of cutaneous lesions and only 1 gastrointestinal lesion. CONCLUSION: Endothelial cells in BRBNS almost always express 1 or more immunohistochemical markers of lymphatic differentiation.
Assuntos
Biomarcadores Tumorais , Neoplasias Gastrointestinais , Imuno-Histoquímica , Nevo Azul , Neoplasias Cutâneas , Humanos , Nevo Azul/metabolismo , Nevo Azul/patologia , Nevo Azul/diagnóstico , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/diagnóstico , Masculino , Criança , Feminino , Pré-Escolar , Adolescente , Neoplasias Gastrointestinais/metabolismo , Neoplasias Gastrointestinais/patologia , Neoplasias Gastrointestinais/diagnóstico , Biomarcadores Tumorais/metabolismo , Biomarcadores Tumorais/análise , Lactente , Proteínas Supressoras de Tumor/metabolismo , Proteínas Supressoras de Tumor/análise , Proteínas de Homeodomínio/metabolismo , Endotélio Linfático/metabolismo , Endotélio Linfático/patologia , Anticorpos Monoclonais Murinos/metabolismoRESUMO
AIMS: Plaque-type blue naevi are rare melanocytic tumours presenting as large, pigmented plaques at birth or during childhood. There is a risk for malignant transformation, but no larger comprehensive studies exist and the diagnosis is challenging, especially on limited biopsy material. The aim is to describe the clinicopathological features and behaviour of the disease more comprehensively. METHODS AND RESULTS: We retrieved eight plaque-type blue naevi, presenting as large, pigmented plaques (median = 7 cm; range = 3-26) most frequently affecting the scalp (four) followed by the cheek, arm, abdominal wall and gluteal cleft (one each), with a slight female predilection. Median age at time of biopsy was 39.5 years (range = 15-90), but three tumours had been present at birth and one since childhood. Histopathologically, the tumours were poorly circumscribed and composed of cellular fascicles of uniform spindle cells in a background of variably prominent pigmented dendritic cells affecting dermis and subcutaneous tissues. The majority had mutations in GNAQ. One tumour showed malignant transformation, characterised by an expansile nodule of pleomorphic epithelioid melanocytes with rhabdoid morphology, high mitotic activity and areas of necrosis. This patient developed metastatic melanoma to lymph nodes. All patients are alive with a median follow-up of 60 months. CONCLUSION: Plaque-type blue naevi are diagnostically challenging tumours with risk for malignant transformation. Awareness and familiarity with the salient clinicopathological features are necessary for reliable diagnosis, and long-term clinical follow-up is required to monitor for malignant transformation.
Assuntos
Melanoma , Nevo Azul , Nevo Pigmentado , Neoplasias Cutâneas , Recém-Nascido , Humanos , Feminino , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Nevo Azul/diagnóstico , Nevo Azul/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Nevo Pigmentado/patologia , Melanoma/patologia , Melanócitos/patologiaRESUMO
Los nevi azules son proliferaciones melanocíticas dendríticas benignas a nivel dérmico, congénitos o adquiridos, debido a un defecto migratorio embrionario de melanocitos a partir de la cresta neural. Se manifiestan clásicamente como una pápula, nódulo o placa de color azul o azul-gris. Muchos subtipos histológicos se han descrito, siendo los más comunes el nevus azul común, nevus azul celular y nevus azul combinado. Las formas esporádicas incluyen al nevus azul lineal, eruptivo, agminado y con satelitosis. La dermatoscopía característica muestra un patrón de pigmentación homogéneo monocromático azul o azul-grisáceo, con ausencia de otras estructuras. Sin embargo, se han descrito también patrones de pigmentación dicromáticos y multicromáticos, además de estructuras tales como red de pigmento, puntos, glóbulos, proyecciones radiadas, pseudópodos, áreas cicatriciales blanquecinas, patrón vascular y rosetas. El diagnóstico diferencial de los nevi azules incluye lesiones melanocíticas y no melanocíticas, benignas y malignas, destacando entre ellas el melanoma. Se presenta el caso de un paciente de sexo masculino de 30 años, portador de un nevus azul celular con cambios de rápida evolución, con desarrollo de lesiones satélites y un aspecto dermatoscópico sugerente de malignidad, simulando un melanoma.
Blue nevi are benign, congenital, or acquired, dermal dendritic melanocytic proliferations due to an embryonic migratory defect of melanocytes starting from the neural crest. They classically manifest as a blue or blue-gray papule, nodule, or plaque. Many histological subtypes have been described, including common blue nevus, cellular blue nevus and combined blue nevus. Sporadic forms include linear blue nevus, eruptive, agminate and with satellitosis. Characteristic dermoscopy shows a homogeneous monochromatic blue or steel-blue pigmentation pattern, with the absence of other structures. However, dichromatic and multichromatic pigmentation patterns have also been described, in addition to structures such as pigment network, dots, globules, streaks, pseudopods, whitish scar areas, vascular pattern and rosettes. Differential diagnosis of blue nevi includes melanocytic and non-melanocytic, benign and malignant lesions, most notably melanoma. The case of a 30-year-old male patient is presented, with a cellular blue nevus with rapidly evolving changes, with development of satellite lesions and a dermoscopic appearance suggestive of malignancy, mimicking melanoma.
Assuntos
Humanos , Masculino , Adulto , Neoplasias Cutâneas/diagnóstico , Nevo Azul/diagnóstico , Neoplasias Cutâneas/patologia , Nevo de Células Epitelioides e Fusiformes , Nevo Azul/patologia , Dermoscopia , Diagnóstico Diferencial , Melanoma/diagnósticoRESUMO
Abstract: Blue nevus is a benign melanocytic lesion whose most frequent variants are dendritic (common) blue nevus and cellular blue nevus. Atypical cellular blue nevus presents an intermediate histopathology between the typical and a rare variant of malignant blue nevus/melanoma arising in a cellular blue nevus. An 8-year-old child presented a pigmented lesion in the buttock since birth, but with progressive growth in the last two years. After surgical excision, histopathological examination revealed atypical cellular blue nevus. Presence of mitoses, ulceration, infiltration, cytological atypia or necrosis may occur in atypical cellular blue nevus, making it difficult to differentiate it from melanoma. The growth of blue nevus is unusual and considered of high-risk for malignancy, being an indicator for complete resection and periodic follow-up of these patients.
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Humanos , Masculino , Criança , Nevo Azul/patologia , Neoplasias Cutâneas/patologia , Diagnóstico DiferencialRESUMO
Abstract: Blue nevus is a benign melanocytic lesion, typically asymptomatic and of unknown etiology. Many histological subtypes are recognized, the most commons being: common blue nevus, cellular blue nevus, and combined blue nevus. New rare variants have been described in the literature, with emphasis on eruptive blue nevus, plaque, agminate, linear, with satellitosis, disseminated, familial and targetoid. The diagnosis of blue nevus usually presents no difficulties, however, the presence of structures such as irregular edges or satellitosis, are highly suggestive of malignancy, and the differential diagnosis with malignant blue nevus and melanoma with peripheral spread should be considered. We report a case of blue nevus with satellitosis in a 15-year-old female patient.
Assuntos
Humanos , Feminino , Adolescente , Neoplasias Cutâneas/patologia , Nevo Azul/patologia , Biópsia , Dermoscopia , Diagnóstico Diferencial , Melanócitos/patologia , Melanoma/patologiaRESUMO
Abstract: Blue nevi are benign melanocytic lesions located in the deeper reticular dermis, consequence of failure of melanocytic migration into the dermal-epidermal junction from the neural crest. Lesions are usually asymptomatic and solitary, but may present in a multiple or agminated (grouped) pattern. The agminated subtype is formed when bluish-pigmented lesions cluster together in a well-defined area. Lesions can be flat or raised. We report the case of a patient who presented multiple bluish macules (1-3 mm in diameter) grouped on the left upper back. Dermoscopy and anatomic pathological examination were consistent with blue nevus.
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Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Cutâneas/patologia , Nevo Azul/patologia , Dorso , Dermoscopia , Melanócitos/patologiaAssuntos
Humanos , Masculino , Adolescente , Ombro , Neoplasias Cutâneas/patologia , Nevo Azul/patologia , Dorso , Nevo PigmentadoRESUMO
Abstract: Melanomas can arise either de novo (70%) or from pre-existing melanocytic lesions (30%). Of the latter, most cases arise at the dermoepidermal junction from small congenital or acquired non-blue nevi while only a few arise from blue nevi, notably the cellular subtype and less commonly the common (dendritic) type. Melanomas that arise from blue nevi usually occur on the scalp with greater frequency, as in the case described. Although previous studies have discussed melanoma arising from giant congenital blue nevi, few have discussed those arising from intermediate blue nevi. We present a case of a 52-yearold man with melanoma on the scalp evolving from an intermediate congenital common blue nevus.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Couro Cabeludo/patologia , Neoplasias Cutâneas/congênito , Nevo Azul/congênito , Nevo Azul/patologia , Neoplasias de Cabeça e Pescoço/patologia , Melanoma/patologia , Biópsia , Evolução Fatal , Derme/patologiaAssuntos
Humanos , Adulto , Feminino , Nevo Azul/diagnóstico , Nevo Azul/patologia , Diagnóstico DiferencialRESUMO
El melanoma tipo animal o equino, es una variante infrecuente de melanoma con pronóstico incierto. Su nombre se debe a las similitudes histológicas con una neoplasia melanocítica presente en caballos tordillos ancianos. Clínicamente se presenta como una lesión nodular o una placa, con pigmentación intensa, pardo-azulada o negra. Histológicamente presenta principalmente una localización dérmica, observándose una proliferación profunda de células elongadas o redondeadas con moderada atipía ybaja tasa mitótica. Presentamos el caso de un paciente de sexo masculino de 31 años de edad, HIV +, con diagnóstico de melanoma tipo animal...
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Humanos , Neoplasias Cutâneas/complicações , Nevo Azul/diagnóstico , Nevo Azul/patologia , HIV , Nevo PigmentadoRESUMO
Argyria is a rare disease caused by prolonged skin contact with silver. Localized cases have been described regarding the use of topical medications, and trauma with objects containing this metal such as acupuncture needles and jewelry. Clinically, a macule or a patch, round or oval, appears in the infected area, with a characteristic bluey-gray color. To our knowledge this is the first time that this clinical condition has been described through the use of dermoscopy.
A argíria é uma doença rara, causada pelo contato prolongado da pele com prata. Foram descritos casos localizados relacionados ao uso de medicamentos tópicos e traumas com objetos que contem esse metal, como agulhas de acupuntura e jóias, por exemplo. Clinicamente, aparecem máculas ou manchas redondas ou ovais na área afetada, com uma característica cor azul-acinzentada. Até onde sabemos esta é a primeira vez que este quadro clínico foi descrito através da dermatoscopia.
Assuntos
Adulto , Feminino , Humanos , Argiria/patologia , Dermoscopia , Nevo Azul/patologia , Neoplasias Cutâneas/patologia , Diagnóstico Diferencial , Orelha Externa/patologiaRESUMO
There are elements in nature that may be compared to some dermatological lesions, such as the black pearl, which is very similar to a cellular blue nevus observed in the gluteus region of a 31-year-old male patient.
A natureza pode oferecer elementos passíveis de comparação com algumas lesões dermatológicas, como a semelhança entre a pérola negra e o nevo azul celular observado na região glútea de paciente do sexo masculino, 31 anos.
Assuntos
Adulto , Animais , Humanos , Masculino , Metáfora , Nevo Azul/patologia , Neoplasias Cutâneas/patologia , Nevo Azul/cirurgia , Pinctada , Neoplasias Cutâneas/cirurgiaRESUMO
O nevo é uma má-formação congênita pigmentada, raramente encontrado na mucosa bucal. Cerca de 1/3 dos casos localizados nesta região anatômica são do tipo azul, uma variante histológica com considerável tendência à malignização. Este artigo relata o caso de um paciente do sexo masculino, tabagista crônico, portador de um nevo azul de 5 cm de diâmetro no palato duro. A excisão da lesão sem biópsia prévia foi a conduta terapêutica de eleição para o caso, uma vez que ainda existe controvérsia na literatura a respeito da realização de biópsia incisional em lesões pigmentadas malignas ou com potencial de malignização. O paciente foi acompanhado por um período de 2 anos, sem sinais de recorrência ou transformação maligna.
Nevus is a congenital pigmented malformation rarely found in the oral mucosa. Around one third of cases located in this anatomical region are of the blue type, a histological variant with considerable tendency to malignancy. This study reports the case of a male patient, chronic smoker, with a blue nevus measuring 5cm in diameter on the hard palate. Since controversy exists in the literature regarding the incisional biopsy of pigmented lesions with malignant or malignant potential, excision without previous biopsy of the lesion was the therapy of choice for this case. The patient was followed-up for two years with no sign of recurrence or malignant transformation.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Bucais/patologia , Nevo Azul/patologia , Mucosa Bucal/patologia , Mucosa Bucal/cirurgia , Neoplasias Bucais/cirurgia , Nevo Azul/cirurgia , Palato DuroRESUMO
Lo que se ha dado en llamar melanoma de tipo animal es un tumor aún no bien determinado ni clasificado. Tiene similitudes clínicas e histopatológicas con el melanoma que se observa en los caballos de pelaje tordillo: un infiltrado alarmante, denso y extenso, de células que ocupan toda la dermis y aún el celular subcutáneo, acompañado sin embargo de un pronóstico benigno y larga sobrevida. El nombre propuesto por Zembowicz et ál., melanocitoma epitelioide pigmentado, parece más adecuado para esta rara variante de melanoma.
Animal-type melanoma is a rare distinct variant of melanoma, charac-terized by a dense proliferation of epithelioid and spindle-shaped mela-nocytes occupying the dermis and the hypodermis, and resembles theheavily pigmented melanomas as seen in grey horses. Only a limitednumber of cases have been reported and, as such, the clinical character-istics of this melanoma variant are incompletely understood. Despite thehigh mean thickness of the tumors, reports indicate a less aggressive behavior and a better outcome of this tumor when compared with conven-tional melanoma, but the underlying pathways related to this particularoutcome are still unknown. As proposed by Zembowicz et ál., the termpigmented epithelioid melanocitoma seems much more suitable.
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Humanos , Feminino , Adulto , Melanoma/patologia , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologia , Adulto , Imuno-Histoquímica , Nevo Azul/patologia , Nevo Pigmentado/metabolismo , Nevo Pigmentado/patologia , Proteínas de Neoplasias/análiseAssuntos
Humanos , Masculino , Idoso , Hemangioma/diagnóstico , Hemangioma/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Neoplasias Gastrointestinais/diagnóstico , Neoplasias Gastrointestinais/patologia , Nevo Azul/diagnóstico , Nevo Azul/patologia , Endoscopia , Hemangioma/terapia , Hemorragia/etiologia , Neoplasias Cutâneas/terapia , Neoplasias Gastrointestinais/terapia , Nevo Azul/terapiaRESUMO
El Síndrome del Nevus Azul (SNA) es una cantidad infrecuente caracterizada por la presencia de malformaciones vasculares cutáneas y gastrointestinales múltiples que generalmente producen hemorragia gastrointestinal masiva u oculta asociada a deficiencia de hierro secundario a sangrado. Nosotros describimos un paciente de 7 años de edad de sexo masculino que presentaba episodios recurrentes de anemia crónica asociada a múltiples malformaciones venosas.