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Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene

¹ Depts of Respirology, ³ Clinical Biology of Extracellular Matrix, and ⁵ Dept of Basic Pathology, Graduate School of Medicine, Chiba University, Chiba, Japan. ² Dept of Laboratory Medicine, Saitama Cardiovascular and Respiratory Centre, Saitama, Japan. ⁴ Dept of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan

CORRESPONDENCE: A. Watanabe, Dept of Respirology, Graduate School of Medicine, Chiba University, 1-8-1 Inohana, Chuou-ku, Chiba City, Chiba 260-8670, Japan. Fax: 81 432262176

Keywords: Cavitary formation in the lung, Ehlers-Danlos syndrome type IV, friability of lung tissue, massive haemoptysis

Received: February 27, 2001
Accepted July 3, 2001

Abstract

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.