Classic Kaposi sarcoma in 3 unrelated Turkish children born to consanguineous kindreds

• Published in: Pediatrics (Evanston) Vol. 125; no. 3; p. e704
• Main Authors: Sahin, Gürses, Palanduz, Ayse, Aydogan, Gonul, Cassar, Olivier, Ertem, A Ulya, Telhan, Leyla, Canpolat, Nur, Jouanguy, Emmanuelle, Picard, Capucine, Gessain, Antoine, Abel, Laurent, Casanova, Jean-Laurent, Plancoulaine, Sabine
• Format: Journal Article
• Language: English
• Published: United States 01.03.2010
• Subjects: Child; Child, Preschool; Consanguinity; Female; Humans; Male; Pedigree; Sarcoma, Kaposi - genetics; Skin Neoplasms - genetics; Turkey; Turkey
• ISSN: 1098-4275
• DOI: 10.1542/peds.2009-2224

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.