Journal
EUROPEAN JOURNAL OF PEDIATRICS
Volume 169, Issue 8, Pages 1033-1036Publisher
SPRINGER
DOI: 10.1007/s00431-009-1131-9
Keywords
Late-onset adenosine deaminase deficiency; Focal epithelial hyperplasia; Human papilloma virus
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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.
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