Published in:
01-08-2010 | Short Report
Late-onset adenosine deaminase deficiency presenting with Heck’s disease
Authors:
Hasibe Artac, Bahar Göktürk, Sefika Elmas Bozdemir, Hatice Toy, Mirjam van der Burg, Ines Santisteban, Michael Hershfield, Ismail Reisli
Published in:
European Journal of Pediatrics
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Issue 8/2010
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Abstract
Focal epithelial hyperplasia, also known as Heck’s disease, is a rare but distinctive entity of viral etiology with characteristic clinical and histopathological features. It is a benign, asymptomatic disease of the oral mucosa caused by human papilloma viruses (HPV). Previous studies postulated an association between these lesions and immunodeficiency. Genetic deficiency of adenosine deaminase (ADA) results in varying degrees of immunodeficiency, including neonatal onset severe combined immunodeficiency (ADA-SCID), and milder, later onset immunodeficiency. We report a 12-year-old girl with the late onset-ADA deficiency presenting with Heck’s disease. Our case report should draw attention to the possibility of immunodeficiency in patients with HPV-induced focal epithelial hyperplasia.