A Rare Case of Squamous Cell Carcinoma of the Esophagus in a Patient With Goltz Syndrome

Abstract

Introduction: Squamous cell carcinoma of the esophagus (SCCE) commonly involves the proximal esophagus and its incidence in the U.S. has been decreasing compared to adenocarcinoma (AC). While AC is mostly associated with Barrett's esophagus in elderly Caucasian men, SCCEis common in elderly African American men who consume tobacco and alcohol. The incidence in younger women is low and independent of race.Recently, SCCE has been described in patients with esophageal papillomatosis. Focal dermal hypoplasia (Goltz syndrome) is a rare disorder associated with musculoskeletal deformities and rarely oroesophageal papillomas that can result in dysphagia. We present a case of Goltz syndrome (GS) diagnosed with esophageal papillomas and SCCE during evaluation for dysphagia. Case presentation: A 37 years old African American female with history of GS presented with progressive dysphagia and weight loss. She denied tobacco and alcohol use. She was cachectic on exam. Syndactyly was noted in her hands and feet. Cutaneous hypo- and hyperpigmented areas were seen on her chest and arms. Her hemoglobin was 9 g/dl. Abdominal CT scan showed a large gastric mass with distal esophageal thickening. EGD revealed distal esophageal papillomas and a large, pedunculated mass arising from the gastroesophageal junction (GEJ) and extending into the gastric fundus. Endoscopic ultrasound (EUS) showed a large mass starting at the GEJ, involving all esophageal layers and encasing the aorta. Fine needle aspiration biopsy revealed moderately differentiated squamous cell carcinoma. Irinotecan and cisplatin were started. Discussion: Goltz syndrome is an uncommon X-linked dominant disorder with only about 300 cases reported worldwide. Females are predominantly affected as males die in utero. It presents with cutaneous and skeletal defects in the form of dermal pigmentary changes and hypoplasia, syndactyly, and dysplastic changes of the teeth and bones. Occasionally gastrointestinal defects such as oroesophageal papillomatosis occur. Given the rarity of GS, the natural history of associated esophageal papillomatosis in this setting is unknown. To our knowledge, this is the first described case of GS associated with esophageal malignancy. Clinicians caring for patients with esophageal papillomatosis should have a low threshold for utilizing endoscopy and possibly EUS in investigating dysphagia, especially in patients with Goltz syndrome.Figure: Skeletal and dermal deformities.Figure: CT abdomen showing mass at GE junction.Figure: Endoscopic view.