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Abstract
Case Report
Case report: Ehlers-Danlos syndrome associated with recurrent hemosputum and moving pulmonary infiltration
Hiroto Takiguchia,b Yuma Adachia Yasuka Haraa Tadahisa Numakuraa,c Koichiro Asanob Atsushi Hatamochid Yoshihumi Matsuuraa
aDepartment of Respiratory Medicine, Ohta-nishinouchi Hospital, Ohta General Hospital Foundation
bDivision of Pulmonary Medicine, Department of Medicine, Tokai University School of Medicine
cDepartment of Respiratory Medicine, Tohoku University Graduate School of Medicine
dDepartment of Dermatology, Dokkyo Medical University, School of Medicine
ABSTRACT
A 31-year-old female visited our hospital because of hemosputum, which she had experienced repeatedly for nine years. Chest CT scan showed a nodule 10 mm in diameter and a cavitary lesion. Diagnosis of a vascular-type Ehlers-Danlos syndrome (EDS) was suspected because of an excessive range of motion in the joints. This was confirmed by the decreased production of type III collagen and abnormal collagen fibril morphology observed in primary cultures of skin fibroblasts from the patient. COL3A1 gene mutation could not be detected in cDNA from the patient's cultured fibroblasts. Vascular-type EDS and other hereditary connective tissue diseases should be included in the differential diagnosis of a case with unexplained hemoptysis in young subjects.
KEYWORDS
Ehlers-Danlos syndrome Hemosputum Pulmonary nodule Cavitary lesion
Received 20 Sep 2013 ／ Accepted 25 Dec 2013
AJRS, 3(3): 414-417, 2014
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