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December 1969

Picture of the Month

Author Affiliations

Boston; Baltimore
From the Division of Medical Genetics, The Johns Hopkins Hospital, Baltimore. Dr. Beighton is now at St. Thomas Hospital, London.

Am J Dis Child. 1969;118(6):891-892. doi:10.1001/archpedi.1969.02100040893013

Denouement and Discussion  Ehlers-Danlos Syndrome

Manifestations  The major manifestations of this syndrome are articular hypermobility, hyperelastic skin, and a tendency to lacerations on relatively minor trauma. Over the bony prominences may be found wide "cigarette paper" scars and fleshy "molluscoid pseudotumors." A bleeding diathesis, of variable severity, is frequently present, and hemorrhage and hematoma formation may occur. Numerous small, hard, subcutaneous nodules are often palpable under the skin, especially over the knees, shins, and forearms. These are calcified and can be demonstrated radiographically, constituting a characteristic feature of the condition.Inguinal and umbilical hernias are common and orthopedic abnormalities, including joint effusions, flat feet, dislocation of joints, and genu recurvatum are frequently encountered. Ocular abnormalities include ease in everting the upper lid, strabismus, and epicanthal folds. Dissecting aneurysm of the aorta, rupture of peripheral arteries, and spontaneous perforation of the intestine are rare but potentially lethal complica