The Rockefeller University, 1230 York Avenue, New York, NY 10065, USA.
Pediatrics. 2010 Mar;125(3):e704-8. doi: 10.1542/peds.2009-2224. Epub 2010 Feb 15.
Infection by human herpesvirus 8 (HHV-8) in childhood is common in the Mediterranean basin; however, classic Kaposi sarcoma (KS) is exceedingly rare in children not infected with HIV and not receiving immunosuppression, with only 30 cases having been reported since 1960. We recently reported 2 children with autosomal and X-linked recessive primary immunodeficiencies underlying KS in a context of multiple clinical manifestations. These reports suggested that classic KS in otherwise healthy children might also result from inborn errors of immunity more specific to HHV-8. In this article, we describe 3 unrelated Turkish children with classic KS born to first-cousin parents. The first patient, a girl, developed KS at 2 years of age with disseminated cutaneous and mucosal lesions. The clinical course progressed rapidly, and the patient died within 3 months despite treatment with vincristine. The other 2 children developed a milder form of KS at the age of 9 years, with multiple cutaneous lesions. A boy treated with interferon alpha therapy for 12 months is now in full remission at the age of 14, 2 years after treatment. The second girl is currently stabilized with etoposide, which was begun 4 months ago. None of the 3 children had any relevant familial history or other clinical features. The occurrence of classic KS in 3 unrelated Turkish children, each born to consanguineous parents, strongly suggests that autosomal recessive predisposition may drive the rare occurrence of HHV-8-associated classic KS in children.
人类疱疹病毒 8（HHV-8）在儿童时期的感染在地中海盆地很常见；然而，在未感染 HIV 且未接受免疫抑制的儿童中，经典卡波西肉瘤（KS）极为罕见，自 1960 年以来仅报告了 30 例。我们最近报道了 2 例伴有常染色体和 X 连锁隐性原发性免疫缺陷的儿童 KS 病例，这些病例存在多种临床表现。这些报告表明，在其他方面健康的儿童中，经典 KS 也可能是由针对 HHV-8 的更为特异性的先天性免疫缺陷引起的。在本文中，我们描述了 3 例来自土耳其的无关联的经典 KS 患儿，他们均为表亲父母所生。第一个患儿是一名女孩，2 岁时出现 KS，伴有播散性皮肤和黏膜损害。临床病程进展迅速，尽管接受长春新碱治疗，患儿仍在 3 个月内死亡。另外 2 例患儿在 9 岁时出现更轻微的 KS 形式，表现为多发性皮肤损害。14 岁时，12 个月前接受干扰素 α 治疗的男孩现已完全缓解，治疗后 2 年。第二个女孩目前正在接受依托泊苷治疗，该治疗于 4 个月前开始。这 3 名患儿均无任何相关家族史或其他临床特征。3 例土耳其无关联患儿均出现经典 KS，且每位患儿均来自近亲父母，这强烈提示常染色体隐性遗传易感性可能导致儿童中罕见的 HHV-8 相关经典 KS 的发生。
