RESUMEN
Kaposi sarcoma (KS) is an endothelial malignancy caused by human herpes virus-8 (HHV-8) infection. The epidemic and iatrogenic forms of childhood KS result from a profound and acquired T cell deficiency. Recent studies have shown that classic KS of childhood can result from rare single-gene inborn errors of immunity, with mutations in WAS, IFNGR1, STIM1, and TNFRSF4. The pathogenesis of the endemic form of childhood KS has remained elusive. We review childhood KS pathogenesis and its relationship to inherited and acquired immunodeficiency to oncogenic HHV-8.
Asunto(s)
Enfermedades Genéticas Congénitas/complicaciones , Herpesvirus Humano 8/inmunología , Proteínas de la Membrana/genética , Proteínas de Neoplasias/genética , Receptores de Interferón/genética , Receptores OX40/genética , Sarcoma de Kaposi/congénito , Sarcoma de Kaposi/inmunología , Proteína del Síndrome de Wiskott-Aldrich/genética , Niño , Humanos , Síndromes de Inmunodeficiencia , Sarcoma de Kaposi/epidemiología , Molécula de Interacción Estromal 1 , Receptor de Interferón gammaRESUMEN
Kaposiform hemangioendothelioma (KHE) associated with Kasabach-Merritt phenomenon is a life-threatening vasculopathy. The current mainstay treatment for KHEs is corticosteroids and chemotherapy, but these medications do not work for all patients and carry significant side effects. We report a neonate with a large congenital KHE who responded extremely well to low-dose radiation therapy.
Asunto(s)
Hemangioendotelioma/radioterapia , Síndrome de Kasabach-Merritt/radioterapia , Sarcoma de Kaposi/radioterapia , Diagnóstico Diferencial , Diagnóstico por Imagen , Hemangioendotelioma/congénito , Humanos , Recién Nacido , Síndrome de Kasabach-Merritt/congénito , Masculino , Diagnóstico Prenatal , Dosificación Radioterapéutica , Sarcoma de Kaposi/congénitoRESUMEN
BACKGROUND: Kaposiform hemangioendothelioma (KHE) is a rare and aggressive vascular tumor of infancy and childhood. It is associated with the development of Kasabach-Merritt syndrome, a life-threatening consumptive thrombocytopenia. We report an interesting case of a massive periorbital congenital KHE in a neonate to raise awareness of this aggressive diagnosis. METHODS: A male neonate presented with a large congenital mass of the lower eyelid. To prevent development of amblyopia, this mass was surgically excised on the sixth day of life. RESULTS: Histologic investigation demonstrated spindle-shaped endothelial cells with surrounding crescentic vessels, which were GLUT-1 receptor-negative and D2-40 receptor-positive, consistent with KHE. Surgical excision of the periorbital KHE successfully cleared the neonate's visual axis. At 1 year of follow-up, there was no evidence of tumor recurrence, and visual development was progressing normally. A pleasing surgical result was achieved without periorbital distortion. CONCLUSIONS: Pediatric vascular tumors have historically been wrought with diagnostic confusion. With recent advances in immunohistochemistry, this previously uncharacterized group of tumors has been differentiated into multiple distinct clinical entities. Accurate and timely diagnosis is paramount because these tumors vary greatly in their clinical behavior, prognosis, and recommended treatment. Surgical excision is preferred and necessary in a neonate with visual access obstruction to prevent amblyopia and irreversible blindness.
Asunto(s)
Neoplasias de los Párpados/congénito , Hemangioendotelioma/congénito , Sarcoma de Kaposi/congénito , Diagnóstico Diferencial , Neoplasias de los Párpados/patología , Neoplasias de los Párpados/cirugía , Hemangioendotelioma/patología , Hemangioendotelioma/cirugía , Humanos , Recién Nacido , Masculino , Sarcoma de Kaposi/patología , Sarcoma de Kaposi/cirugíaRESUMEN
Kaposiform hemangioendothelioma is a rare locally aggressive vascular tumor associated with Kasabach Merritt syndrome. We present a case of congenital Kaposiform hemangioendothelioma of the leg in a female infant who was born to a mother treated with various medications including etanercept, a TNF antagonist, due to rheumatoid arthritis. The neonate suffered from a fulminant form of Kasabach Merritt syndrome with disseminated intravascular coagulation (DIC) resulting in multi-organ failure which led to her demise.