title: Report on a case of Rothmund-Thomson syndrome associated with esophageal stenosis.
abstract: 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.
authors.affiliation: Department of Surgical and Gastroenterological Sciences Department of Medical Diagnostic Sciences and Special Therapies, Pathology Unit, Via Giustiniani 2, University of Padova, Padua, Italy. linopolese@hotmail.com
authors.forename: L
authors.initials: L
authors.lastname: Polese
authors.forename: S
authors.initials: S
authors.lastname: Merigliano
authors.forename: B
authors.initials: B
authors.lastname: Mungo
authors.forename: G
authors.initials: G
authors.lastname: Pennelli
authors.forename: L
authors.initials: L
authors.lastname: Norberto
mesh_terms: D000293:Adolescent; D000328:Adult; D002404:Catheterization; D004940:Esophageal Stenosis / Q000150:complications* / Q000473:pathology / Q000628:therapy*; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000150:complications / Q000188:drug therapy; D007223:Infant; D011038:Rothmund-Thomson Syndrome / Q000150:complications*; D055815:Young Adult