S4442 White Sponge Nevus: A Surprising Cause of Dysphagia: A Case Report

Introduction: White Sponge Nevi (WSN), also named White Sponge Nevus of Cannon, after its discovery by Dr. Albert Cannon in 1935, is a benign and rare, autosomal dominant disorder presenting during childhood with asymptomatic, diffuse, bilateral, white plaques on mucosa. It is caused by mutations in the keratin 4 (KRT4) or keratin 13 (KRT13) genes. The oral, nasal, and rectal mucosa are most affected, with the esophageal mucosa rarely involved. We present a case report of a young man presenting for dysphagia and found to have esophageal White Sponge Nevi. Case Description/Methods: A 48-year-old man with a past medical history of gastroesophageal reflux disease presents to the GI clinic complaining of intermittent dysphagia for 6-12 months. He reports feeling food getting stuck in the proximal portion of the esophagus but denies any association with solid food or liquids. He denies any chest pain, weight loss, hematochezia, hematemesis, fatigue or any other associated symptoms. The physical exam was non-contributory. His family history is significant for sublingual white nevus in his daughter. An esophagogastroduodenoscopy was performed and showed diffuse white exudate with mild resistance to the scope, suggesting white sponge nevus syndrome. Biopsies were performed which showed a gastroesophageal junction with intestinal metaplasia and mucosa consistent with reflux esophagitis. Another look by the pathologist to confirm WSN was sent. Discussion: WSN is usually asymptomatic, very rarely only limited to the esophagus. It is also commonly missed on biopsies. Symptoms may arise if secondary infection develops or if the altered mucosal texture causes subjective discomfort. Regular clinical monitoring is recommended to assess for changes in lesion appearance, secondary infection, or new symptoms, especially in the oral and esophageal mucosa and patients should be educated to report new discomfort, pain, or changes in lesion size or texture, as secondary bacterial or fungal infections can occur and may require targeted antimicrobial therapy or improved oral hygiene measures. We hope that this case highlights the importance of keeping WSN on the differential for dysphagia, especially if the patient has a family history of WSN3.