PFAPA syndrome in siblings. Is there a genetic background?

“PFAPA syndrome” is an autoinflammatory entity composed of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis. There have been many reports of children with the disease, but only occasionally have been described in siblings, and no specific genetic mutation has been determined y...

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Bibliographic Details
Published in:European journal of pediatrics 2011-12, Vol.170 (12), p.1563-1568
Main Authors: Antón-Martín, Pilar, Ortiz Movilla, Roberto, Guillén Martín, Sara, Allende, Luis M., Cuesta Rubio, M. Teresa, López González, M. Fernanda, Ramos Amador, José Tomás
Format: Article
Language:English
Subjects:
Adenitis
Aphthous stomatitis
Autoimmunity
Biological and medical sciences
Child
Child, Preschool
Children
Corticosteroids
Diseases of the osteoarticular system
Fever
Follow-Up Studies
Foot-and-mouth disease
General aspects
Humans
Inflammatory joint diseases
Lymphadenitis - complications
Lymphadenitis - genetics
Lymphadenitis - immunology
Male
Medical sciences
Medicine
Medicine & Public Health
Neck
Original Paper
Pediatrics
Pharyngitis
Pharyngitis - complications
Pharyngitis - genetics
Pharyngitis - immunology
Siblings
Stomatitis
Stomatitis, Aphthous - complications
Stomatitis, Aphthous - genetics
Stomatitis, Aphthous - immunology
Syndrome
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Summary:“PFAPA syndrome” is an autoinflammatory entity composed of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis. There have been many reports of children with the disease, but only occasionally have been described in siblings, and no specific genetic mutation has been determined yet. Corticosteroids are the mainstay in the treatment of the acute attacks. The role of surgery in long-term follow-up (tonsillectomy with or without adenoidectomy) is controversial. We report two brothers affected with the syndrome, in whom corticosteroids as the only treatment led to an improvement. A genetic work-up was performed, making very unlikely other possible syndromes of recurrent fever. Conclusion : PFAPA syndrome is the most common recurrent periodic fever disorder described in childhood. Its genetic background has not been elucidated yet. Our contribution with two siblings affected with PFAPA syndrome further support the genetic basis for the entity.
ISSN:0340-6199
1432-1076
DOI:10.1007/s00431-011-1479-5