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Ehlers-Danlos Syndrome

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source: Proceedings of the Royal Society of Medicine

year: 1939

authors: Lowe J

summary/abstract:

When I first saw this girl, who is aged 9, I noticed she had an unusual deformity in the elbowA, and clinical examination suggested it might be congenital superior radio-ulnar synostosis. This was confirmed by X-ray examination. On further examination we found three of the four typical features of Ehlers-Danlos syndrome:
(1) She had marked laxity of the skin especially over the elbows and knees and between the scapulae.
(2) One point in her history was characteristic. She had fallen down in 1936 and had split the skin right across the patella, exposing the patellar ligament, and was in hospital for three weeks. This long delay in healing is well known, and the surgeon made a note at the time that there was a great amount of effusion. That is also described as characteristic. The typical ” cigarette-paper” appearance of the scars on the skin was well shown.
(3) The hyperflexibility of the joints was marked. I think most of you noted the comparative ease with which the patient put her arm behind her back and touched her ear Mwith her fingers, and then she took her heel and touched her umbilicus with it. As regards the fourth feature described in the syndrome-the spherules-for myself I have not been able to find them, but one member thought he could feel a small one over the tibia.

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