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SM Journal of Clinical Pathology

A Case of Kyphoscoliotic Ehlers-Danlos Syndrome

[ ISSN : 2576-778X ]

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Received: 07-Sep-2017

Accepted: 01-Dec-2017

Published: 04-Dec-2017

Case Report | Volume 2 - Issue 2 | Article DOI :

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Chang PS¹#˒ Thornburg DS¹#˒ Waltz W², Das M¹, Schlenker EH¹ and Killian MS¹*

¹Department of Basic Biomedical Sciences, University of South Dakota Sanford School of Medicine, USA
²Department of Pediatrics, University of South Dakota Sanford School of Medicine, USA

#Both authors contributed equally.

Corresponding Author:

Killian MS, University of South Dakota, 414 E. Clark St. Vermillion, SD 57069, USA, Email: m.scott.killian@gmail.com

Abstract

During a post-mortem examination multiple pathological findings were discovered in an individual known to have suffered from Ehlers-Danlos Syndrome (EDS). The most prominent of these findings was severe curvature of the spine in both coronal and sagittal planes, suggestive of the rare Kyphoscoliotic Subtype of EDS (kEDS). Cardiac abnormalities included a rare quadricuspid pulmonary valve. Lung and bone irregularities, bilateral diaphragmatic hernias, and long segment bowel stricture were also identified. Immunohistochemical staining of skin, muscle, and lung tissue revealed atypical composition and the reduced presence of lysyl hydroxylase (PLOD1). Here we describe autopsy findings of a kEDS case and we discuss the implications of kyphoscoliosis on the heart and the lungs.

Citation

Chang PS, Thornburg DS, Waltz W, Das M, Schlenker EH and Killian MS. A Case of Kyphoscoliotic Ehlers-Danlos Syndrome. SM J Clin Pathol. 2017; 2(2): 1012.