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(Circulation. 1999;100:e57-e58.)
© 1999 American Heart Association, Inc.

Circulation Electronic Pages

Skin Manifestations, Multiple Aneurysms, and Carotid-Cavernous Fistula in Ehlers-Danlos Syndrome Type IV

Jay-Hyun Koh, MD; Joo Sung Kim, MD; Seung-Chyul Hong, MD, PhD; Yeon Hyeon Choe, MD, PhD; Young Soo Do, MD, PhD; Hong Sik Byun, MD, PhD; Won Ro Lee, MD, PhD; Duk-Kyung Kim, MD, PhD

From the Departments of Medicine (J.-H.K., J.S.K., W.R.L., D.K.), Neurosurgery (S.H.), and Radiology (Y.H.C., Y.S.D., H.S.B.), Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Correspondence to Duk-Kyung Kim, MD, PhD, Cardiovascular Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Ilwon-dong, Kangnam-Ku, Seoul 135-230, Korea. E-mail dkkim@smc.samsung.co.kr

	Introduction

 
A21-year-old woman presented with left ocular pain and severe pulsatile headache. She had suffered from easy bruisability since she was young. On physical examination, ecchymoses and bruises were noticed on trauma sites (Figure 1A). The skin was so thin that subcutaneous blood vessels were visible (Figure 1B). Huge hematomas and ecchymoses occurred at the puncture sites after angiography (Figure 1C). There was no significant hyperelasticity of the skin. Mild hypermobility of the joints in the hands was observed.

View larger version (67K): [in this window] [in a new window]   Figure 1. A, Patient's arms showed ecchymoses and bruises at needle puncture sites. B, Patient's skin over upper thorax showed translucence with visible vessels (arrows). C, Severe ecchymoses and hematomas occurred at puncture sites after transfemoral abdominal aortogram despite adequate compression.

Angiography showed a large carotid-cavernous fistula and an aneurysm at the cervical portion of the left internal carotid artery (Figure 2A). Abdominal aortography disclosed a large ovoid aneurysm of the left renal artery with delayed nephrogram (Figure 2B). The carotid-cavernous fistula was successfully occluded by detachable balloons.

View larger version (63K): [in this window] [in a new window]   Figure 2. A, Left internal carotid angiogram disclosed a direct carotid-cavernous fistula (solid arrow) with drainage into superior ophthalmic vein (arrowhead). There is a small aneurysm at anterior wall of distal cervical internal carotid artery (open arrow). B, Abdominal aortogram showed large aneurysm (arrow) of left renal artery with delayed nephrogram.

This case demonstrates characteristic clinical features of type IV Ehlers-Danlos syndrome, an autosomal dominant disorder resulting from mutations in the COL3A1 gene. The gene defects alter the metabolism . . . [Full Text of this Article]