• Clinical genetics · Dec 1996

    Review Case Reports

    Respiratory complications of Ehlers-Danlos syndrome type IV.

    • S B Dowton, S Pincott, and L Demmer.
    • Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA. dowton@kids.wustl.edu
    • Clin. Genet. 1996 Dec 1;50(6):510-4.

    AbstractPulmonary complications are described in a case of Ehlers-Danlos syndrome type IV, established by studies of collagen biosynthesis. At age 20.5 years the patient, who had previously suffered a spontaneous colonic perforation, developed intermittent recurrent hemoptysis and had a spontaneous hemopneumothorax. At presentation, imaging studies revealed multiple scattered cavitary lesions in both lungs. On separate occasions large parenchymal cysts ensued and subsequently regressed. Reviews of other reported patients indicate that pulmonary complications do occur in patients with Ehlers-Danlos syndrome type IV but have not resulted directly in patient mortality.

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