title: 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.
authors.affiliation: Division of Immunology, School of Pathology, University of the Witwatersrand, Johannesburg, South Africa. ashron@icon.co.za
authors.forename: Ronald A
authors.initials: RA
authors.lastname: Asherson
authors.forename: Chris
authors.initials: C
authors.lastname: Bosman
authors.forename: Mohammed
authors.initials: M
authors.lastname: Tikly
authors.forename: Farrell
authors.initials: F
authors.lastname: Spiro
authors.forename: F Michael
authors.initials: FM
authors.lastname: Pope
mesh_terms: D000328:Adult; D000792:Angiography; D017152:Antibodies, Antiphospholipid / Q000378:metabolism; D002097:C-Reactive Protein / Q000378:metabolism; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D007668:Kidney / Q000098:blood supply; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis; D012867:Skin / Q000473:pathology; D014841:von Willebrand Factor / Q000276:immunology / Q000378:metabolism
chemical_list: D017152:Antibodies, Antiphospholipid; D014841:von Willebrand Factor; D002097:C-Reactive Protein