Late-onset adenosine deaminase deficiency presenting with Heck's disease.
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.
Artac
Hasibe
H
Department of Pediatric Immunology and Allergy, Meram Medical Faculty, Selcuk University, Beysehir yolu, 42080 Konya, Turkey. hasibeartac@yahoo.com
Göktürk
Bahar
B
Bozdemir
Sefika Elmas
SE
Toy
Hatice
H
van der Burg
Mirjam
M
Santisteban
Ines
I
Hershfield
Michael
M
Reisli
Ismail
I
D000243:Adenosine Deaminase / Q000172:deficiency*; D000367:Age Factors; D017668:Age of Onset; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D017573:Focal Epithelial Hyperplasia / Q000175:diagnosis* / Q000201:enzymology*; D006801:Humans
D000243:Adenosine Deaminase