Ehlers-Danlos syndrome type IV in a young man

Abstract

We describe a 19-year-old male, with a family history of both systemic lupus erythematosus and Marfan syndrome, who had a history of bruising easily and skin lesions since childhood. He had a spontaneous colonic perforation at the age of 16 years, followed 3 years later by sudden development of bilateral renal infarctions and hypertension, which on angiography were found to be due to dissection of both renal arteries. Transient elevations of 3 types of antiphospholipid antibodies (aPL) were detected. Skin biopsy showed typical elastosis perforans serpiginosa. The history together with the generalized connective tissue phenotype, histology, and angiographic features combined to establish a diagnosis of vascular Ehlers-Danlos syndrome, type IV; the body habitus resembled the phenotypically-related condition of Marfan syndrome. The coincidental finding of transient aPL elevations combined to make this a difficult diagnostic and clinical management problem.