Ehlers-Danlos syndrome type IV in a young man.
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.
Asherson
Ronald A
RA
Division of Immunology, School of Pathology, University of the Witwatersrand, Johannesburg, South Africa. ashron@icon.co.za
Bosman
Chris
C
Tikly
Mohammed
M
Spiro
Farrell
F
Pope
F Michael
FM
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
D017152:Antibodies, Antiphospholipid; D014841:von Willebrand Factor; D002097:C-Reactive Protein