Report on a case of Rothmund-Thomson syndrome associated with esophageal stenosis

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis. While its incidence is unknown, approximately 300 cases have been reported in the literature. The syndrome typically presents with a characteristic facial rash (poikiloderma), its diagnostic hallmark, and heterogeneous clinical features including congenital skeletal abnormalities, sparse hair distribution, juvenile cataracts, and a predisposition to osteosarcoma. Gastrointestinal symptoms, such as pyloric stenosis, anal atresia, annular pancreas, and rectovaginal fistula, have also been reported sporadically. This is a report describing a patient diagnosed with RTS referred to us because of dysphagia caused by esophageal stenosis. Long-term results of endoscopic dilation are also presented.