Eosinophilic Esophagitis Is a Trait of Netherton Syndrome
Monday, March 7, 2016: 3:00 PM
Room 408B (Convention Center)
Nathalia Bellon, MD, , , , ,
Rationale: Netherton syndrome (NS) is a rare autosomal recessive skin disease due to loss of LEKTI, a protein expressed in stratified epithelia, with severe skin inflammation and constant allergic manifestations. This study assessed whether eosinophilic esophagitis (EoE) could occur during NS.

Methods: Routine upper gastrointestinal endoscopies with systematic biopsies of the proximal, medial and distal esophagus were performed and analyzed in 9 patients (4 girls, 5 boys; median age 5,6 [1-15] years) with digestive manifestations and characteristic NS. Standard stains and LEKTI immunostaining (using a monoclonal antibody specific for LEKTI, Santa Cruz Biotechnology) were performed on esophageal samples, in NS and non NS-control patients: 5 with EoE and 10 without EoE. According to international consensus, diagnosis of EoE was affirmed when >15 eosinophils/HPF were present in at least one sample. Patients are followed in the referral centre MAGEC, Necker-Enfants Malades Hospital (Paris, France) and included in the French cohort of allergic patients (Arsene, French Health Minister registry DC-2009-955), implying parents written consent.

Results: EoE was found in 4/9 (44%) NS patients. Among the 5 NS patients without EoE, all but one patient were systematically fed with the conventional “6-food” elimination diet (SFED) used in EoE treatment strategy. Esophageal LEKTI immunoreactivity was negative in 8/9 (89%) NS patients, contrasting with positivity in all control patients (with or without EoE).

Conclusions: EoE appears to be a major feature of NS. Further research is needed to try to prevent the development of EoE in NS patients.