Ehlers-Danlos Syndrome with Ectopic Bone Formation

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Abstract
Individuals afflicted with the Ehlers-Danlos syndrome exhibit a curious and striking complex of genetic abnormalities affecting the skin and its blood vessels, the joints, and the subcutaneous tissues. The skin can be raised in high folds which, when released, retract spontaneously and more or less completely. There is passive and active hypermobility of the joints, particularly of the fingers and toes. Fragility and friability of the skin and its blood vessels are present and are responsible for hematomas which develop following minor trauma. Trivial injuries also produce gaping skin wounds which heal with difficulty, leaving irregular scars. Small, cyst-like, movable subcutaneous nodules are often observed. These are the classical findings, usually present as a group, representing true instances of the syndrome. Occasional cases will exhibit one or more of a variety of associated abnormalities, among which have been reported clubfoot, dental deformities, lymphangiectatic tumors, acrocyanosis, and mental deficiency. Of unknown cause, the syndrome is frequently dominant hereditary, manifesting itself in infancy and persisting throughout life (13). In recent years reports of the Ehlers-Danlos syndrome have become quite frequent and several comprehensive reviews have been published (13, 16, 21, 33). This work has appeared almost exclusively in the dermatologic and pediatric literature, while the syndrome has otherwise remained relatively unknown. The dermatologists, Johnson and Falls (13), state: “It seems … that the syndrome should have been recognized and emphasized by others. For instance, the orthopedists should have been recording the joint symptoms; the surgeon, the friability of the skin; the roentgenologist, the roentgenologic findings; the pathologist, the tissue changes; the internist, the ecchy-moses and hemorrhages; and the geneticists, the familial characteristics.” Since roentgen study of the patient whose case history forms the basis for this report revealed the hitherto unrecorded presence of true ectopic bone formation in addition to most of the classical clinical features of the syndrome, and because the initial clue to the nature of a peculiar group of clinical findings was derived from roentgen studies, we feel that this report should be added to the radiologic literature. Case Report History A 38-year-old white male was admitted to the Veterans Administration Hospital, Brooklyn, N. Y., on Feb. 19, 1953, for repair of bilateral inguinal hernia. He knew of no abnormalities suggestive of the Ehlers-Danlos syndrome in members of his family. Since 1943, the patient had had essential hypertension, with headache and blurred vision. Also in 1943, he had first experienced dull aching pains in the left hip, anteriorly.

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