Asunto(s)
Adenocarcinoma , Neoplasias de la Mama , Neoplasias de las Glándulas Sudoríparas , Adenocarcinoma/genética , Neoplasias de la Mama/patología , Proteína del Grupo de Complementación N de la Anemia de Fanconi/genética , Femenino , Predisposición Genética a la Enfermedad , Células Germinativas/patología , Mutación de Línea Germinal , HumanosAsunto(s)
Subunidades alfa de la Proteína de Unión al GTP/genética , Melanoma/genética , Mutación , Nevo Azul/genética , Fosfoproteínas/genética , Factores de Empalme de ARN/genética , Neoplasias Cutáneas/genética , Anciano , Biomarcadores de Tumor , Femenino , Humanos , Neoplasias Hepáticas/secundario , Metástasis Linfática , Melanoma/patología , Persona de Mediana Edad , Nevo Azul/patología , Neoplasias Cutáneas/patologíaAsunto(s)
Dermoscopía/métodos , GTP Fosfohidrolasas/genética , Melanoma/patología , Proteínas de la Membrana/genética , Proteínas Proto-Oncogénicas B-raf/genética , Neoplasias Cutáneas/patología , Pruebas Genéticas , Humanos , Melanoma/genética , Mutación , Neoplasias Cutáneas/genética , Melanoma Cutáneo MalignoRESUMEN
INTRODUCTION: Malignant chondroid syringomas, also known as cutaneous malignant mixed tumors, are rare neoplasms that most frequently occur on the torso or extremities of women. Here, we present an illustrated case of a facial malignant chondroid syringoma. MATERIALS AND METHODS: A 32-year-old female patient with no notable medical history presented with an approximately 1cm-wide, painless, palpably-mobile subcutaneous nodule, suggestive of a sebaceous cyst, just above the middle third of the right eyebrow. The nodule had grown steadily over six months. She had no palpable cervical lymphadenopathies. RESULTS: Anatomic pathology of the enucleated nodule found an adnexal sudoriparous tumor measuring 6×10mm and indicative of a malignant chondroid syringoma. Cervicofacial computed tomography and positron emission tomography scans showed no near or distant lymph node involvement. A second intervention for wide excision around the original enucleation lesion (+1cm) was validated in a multidisciplinary, cancerology-dermatology consultation. The eyebrow was reconstructed with a temporally-harvested fasciocutaneous island flap. DISCUSSION: Malignant chondroid syringomas are very rare and thus no standardized treatment has been established for them. Only 12 craniofacial localizations have been described to date. Radiation therapy and chemotherapy have not been shown effective for this malignancy, leaving only wide excision as a therapeutic option. A high and sustained (as much as 20 years after the initial diagnosis) risk of recurrence or metastasis necessitates prolonged patient follow-up.