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3.
Actas dermo-sifiliogr. (Ed. impr.) ; 114(7): 636-641, jul.- ago. 2023. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-223013

RESUMO

El melanoma sobre nevus azul o melanoma ex-blue nevus es una variedad de melanoma peculiar que tiene un perfil genético diferente al del resto de los melanomas cutáneos y sorprendentemente superponible al perfil del melanoma uveal. Aunque puede aparecer de novo, el melanoma ex-blue nevus se suele desarrollar sobre un nevus azul previo o sobre una melanocitosis dérmica. No todas las lesiones nodulares desarrolladas sobre un nevus azul o una melanocitosis dérmica son melanomas, y los hallazgos clínicos e histológicos pueden ser insuficientes para llegar a un diagnóstico de certeza. Así, cobran relevancia estudios adicionales, como la hibridación genómica comparada, pues la presencia de aberraciones cromosómicas favorece el diagnóstico de malignidad. Es de especial utilidad el estudio del gen BAP1, cuya pérdida de expresión orienta a melanoma en este espectro de lesiones. Presentamos 3casos del espectro nevus azul a melanoma ex-blue nevus con estudios de biología molecular (AU)


Melanoma arising in blue nevus, also known as melanoma ex blue nevus, is a specific form of melanoma whose genetic profile is different to that of other cutaneous melanomas and surprisingly similar to that of uveal melanoma. Although melanoma ex blue nevus can appear de novo, it usually arises in a preexisting blue nevus or dermal melanocytosis. Not all nodular lesions arising in association with blue nevus or dermal melanocytosis are melanomas, however, and because clinical and histologic findings may be insufficient for a definitive diagnosis, additional studies such as comparative genomic hybridization are important. Detection of chromosomal aberrations supports a diagnosis of malignancy. Studies of the BAP1 gene are particularly useful in this setting because loss of expression is indicative of melanoma. We present 3 cases on the spectrum of blue nevus to melanoma ex blue nevus that were studied using molecular biology techniques (AU)


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Melanoma/diagnóstico , Melanoma/genética , Nevo Azul/diagnóstico , Nevo Azul/genética , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Prognóstico , Melanoma/patologia , Nevo Azul/patologia , Neoplasias Cutâneas/patologia , Proteínas Supressoras de Tumor/genética , Ubiquitina Tiolesterase/genética
4.
Actas dermo-sifiliogr. (Ed. impr.) ; 114(7): t636-t641, jul.- ago. 2023. ilus, tab
Artigo em Inglês | IBECS | ID: ibc-223014

RESUMO

Melanoma arising in blue nevus, also known as melanoma ex blue nevus, is a specific form of melanoma whose genetic profile is different to that of other cutaneous melanomas and surprisingly similar to that of uveal melanoma. Although melanoma ex blue nevus can appear de novo, it usually arises in a preexisting blue nevus or dermal melanocytosis. Not all nodular lesions arising in association with blue nevus or dermal melanocytosis are melanomas, however, and because clinical and histologic findings may be insufficient for a definitive diagnosis, additional studies such as comparative genomic hybridization are important. Detection of chromosomal aberrations supports a diagnosis of malignancy. Studies of the BAP1 gene are particularly useful in this setting because loss of expression is indicative of melanoma. We present 3 cases on the spectrum of blue nevus to melanoma ex blue nevus that were studied using molecular biology techniques (AU)


El melanoma sobre nevus azul o melanoma ex-blue nevus es una variedad de melanoma peculiar que tiene un perfil genético diferente al del resto de los melanomas cutáneos y sorprendentemente superponible al perfil del melanoma uveal. Aunque puede aparecer de novo, el melanoma ex-blue nevus se suele desarrollar sobre un nevus azul previo o sobre una melanocitosis dérmica. No todas las lesiones nodulares desarrolladas sobre un nevus azul o una melanocitosis dérmica son melanomas, y los hallazgos clínicos e histológicos pueden ser insuficientes para llegar a un diagnóstico de certeza. Así, cobran relevancia estudios adicionales, como la hibridación genómica comparada, pues la presencia de aberraciones cromosómicas favorece el diagnóstico de malignidad. Es de especial utilidad el estudio del gen BAP1, cuya pérdida de expresión orienta a melanoma en este espectro de lesiones. Presentamos 3casos del espectro nevus azul a melanoma ex-blue nevus con estudios de biología molecular (AU)


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Melanoma/diagnóstico , Melanoma/genética , Nevo Azul/diagnóstico , Nevo Azul/genética , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Prognóstico , Melanoma/patologia , Nevo Azul/patologia , Neoplasias Cutâneas/patologia , Proteínas Supressoras de Tumor/genética , Ubiquitina Tiolesterase/genética
9.
Rev. esp. enferm. dig ; 111(8): 643-647, ago. 2019. ilus, tab, graf
Artigo em Espanhol | IBECS | ID: ibc-190339

RESUMO

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder with characteristic skin hemangiomas and vascular malformations, mostly in the gastrointestinal (GI) tract. The GI lesions are mainly located in the stomach and small intestine, usually more than a hundred, leading to gastrointestinal bleeding and severe chronic anemia. Parenteral iron infusions and scheduled transfusions are frequently necessary. We describe the case of a 21-year-old male with anemia secondary to BRBNS, who becomes unresponsive to octreotide and shows an excellent response to sirolimus (SRL), dismissing the intravenous iron supplementations and being free of transfusions. During the treatment, the patient presents avascular hip necrosis, which is adequately treated with an injection of stem cells with complete recovery, and without the suspension of SRL. Two years later, adequate response persists with no other relevant side effects


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Assuntos
Humanos , Masculino , Adulto Jovem , Anemia/tratamento farmacológico , Sirolimo/uso terapêutico , Síndrome do Nevo Displásico/complicações , Nevo Azul/complicações , Hemorragia Gastrointestinal/etiologia , Hemangioma/complicações
15.
Actas dermo-sifiliogr. (Ed. impr.) ; 105(2): 186-190, mar. 2014. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-120255

RESUMO

El melanoma de tipo animal es una variante infrecuente de melanoma maligno humano. A pesar de desarrollar metástasis locorregionales y a distancia, con frecuencia estos pacientes presentan una tasa de mortalidad inferior a la de otros tipos de melanoma. Presentamos 3 casos de melanoma de tipo animal en 3 varones de edad avanzada, con características clínicas y dermatoscópicas comunes (patrón azul homogéneo, estructuras blanquecinas irregulares y vasos gruesos irregulares)


Animal-type melanoma is a rare variant of malignant melanoma in humans. Although many patients develop locoregional and distant metastases, mortality is lower than in other types of melanoma. We present 3 cases of animal-type melanoma in elderly men and include a description of common clinical and dermoscopic features (homogeneous blue pattern, irregular whitish structures, and irregular large vessels)


Assuntos
Humanos , Masculino , Idoso , Melanoma/classificação , Endoscopia/métodos , Nevo Azul/diagnóstico , Diagnóstico Diferencial
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