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: L Polese, S Merigliano, B Mungo, G Pennelli, L Norberto
• Journal: Diseases of the esophagus : official journal of the International Society for Diseases of the Esophagus (Dis Esophagus) Vol. 24 Issue 8 Pg. E41-4 (Nov 2011) ISSN: 1442-2050 [Electronic] United States
• PMID: 21951866 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2011 Copyright the Authors. Journal compilation © 2011, Wiley Periodicals, Inc. and the International Society for Diseases of the Esophagus.

Topics

• Adolescent
• Adult
• Catheterization
• Esophageal Stenosis (complications, pathology, therapy)
• Female
• Humans
• Hypothyroidism (complications, drug therapy)
• Infant
• Rothmund-Thomson Syndrome (complications)
• Young Adult