Eosinophilic Esophagitis in a Child With Juvenile Polyposis Syndrome

Abstract

To the Editor: The pathogenesis of juvenile polyposis syndrome (JPS) and associated manifestations (telangiectasias, congenital heart disease, cleft lip/palate) is unknown; however, genetics (BMPR1A and SMAD4) and lifestyle have been implicated (1). A Canadian report showed hyperplastic-inflammatory polyps in the esophagus of a patient with long-standing eosinophilic esophagitis (EoE) (2). We performed an upper endoscopy on a patient with JPS, which was revealing for EoE. Upon review of the literature, an association between these 2 entities may exist. JPS and EoE share a predilection for boys (3) and those with a personal or family history of allergy (4). Because nasal polyps share many histological similarities with juvenile polyps and are believed to be allergic manifestations, studies have suggested that juvenile polyps represent a response of the gastrointestinal system to an allergic stimulus leading to increased eosinophil-dominant inflammation (4). This same mechanism is thought to occur in patients with EoE. Our patient tested negative for BMPR1A and SMAD4 gene mutations; however, microarray revealed a deletion within the serine/threonine kinase 10 gene. Its gene product affects cellular functions such as growth, apoptosis, and morphogenesis (5) and is closely related to the serine/threonine kinase 11 gene seen in Peutz-Jeghers syndrome. Protein tyrosine kinases play an integral role in the activation of inflammatory and airway smooth muscle and epithelial cells in asthmatics. Inhibitors of tyrosine kinase have been analyzed to prevent airway hyperresponsiveness and eosinophilic infiltration (6). At this time, we recommend that physicians consider taking esophageal biopsies of their patients with JPS to evaluate for EoE.