TY - JOUR T1 - Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene JF - European Respiratory Journal JO - Eur Respir J SP - 195 LP - 198 DO - 10.1183/09031936.02.00219202 VL - 19 IS - 1 AU - A. Watanabe AU - Y. Kawabata AU - O. Okada AU - N. Tanabe AU - H. Kimura AU - A. Hatamochi AU - H. Shinkai AU - N. Sakai AU - T. Shimada AU - K. Hiroshima AU - T. Kuriyama Y1 - 2002/01/01 UR - http://erj.ersjournals.com/content/19/1/195.abstract N2 - Ehlers-Danlos syndrome type IV (EDS IV) is caused by mutation within the COL3A1 gene, resulting in the disorder of type III procollagen. The diagnosis is confirmed by demonstrating the synthesis of abnormal type III procollagen molecules from cultured dermal fibroblasts or by identifying the mutation in the COL3A1 gene.The authors report a case of EDS IV caused by a novel point mutation in the COL3A1 gene in a 16-yr-old female. Recurrent haemoptysis and cavitary formation of the lung were evidence of pulmonary involvement. However, extrathoracic manifestations of EDS IV were mostly absent.To the best of the authors' knowledge, all previously reported Ehlers-Danlos syndrome IV patients with respiratory disease had the characteristic findings or histories of Ehlers-Danlos syndrome IV. In the present case, connective tissue friability was suspected due to tissue laceration observed in the biopsied lung specimen, and the diagnosis was made beginning from this pivotal finding. ER -