Two cases of Ehlers-Danlos syndrome.

The Ehlers-Danlos syndrome is a congenital abnormality of the skin, of which the following may be considered the chief characteristics: (1) Abnormal friability of the skin and subcutaneous tissue; (2) loose and hyperelastic skin; (3) hyperextensibility of joints; (4) the presence of nodules of various types in the skin ; (5) well-marked epicanthic folds. The clinical picture is not invariably complete and, as in other congenital conditions, the incidence of associated congenital abnormalities is higher than in normal subjects. The friability of the skin is nearly always evident from the history of these patients. They are described as being subject to cuts or even large gaping wounds from the most trivial injuries, and a glance at the skin of their knees or foreheads will show scarring of an unusual degree. The laxity of the skin is easily demonstrable as a rule by the ease with which a fold may be drawn away from the deeper tissues, and its lack of attachment is suggested by the absence of skin. creases which, according to Le Gros Clark (1945) are due to the attachment of the skin to deep fascia by strands of collagen fibres. 'Observation ofthe wounds in these patients shows an unusual freedom of the fat lobules, which are easily detached from the wound surface, and it is noticed that when sutures are being placed in such wounds it is necessary to space them close together, owing to the marked degree of retraction of the skin between the sutures. There is an abnormal tendency in these patients to bruise easily, and this has been described as due to abnormal friability of the blood vessels. In fact, no abnormal histological appearance of the vessel walls has been described and it may well be that the cause of the vascular damage is due to lack of supporting tissue. There is no abnormality of the platelet count. Hyperelasticity of the skin is demonstrated by the rapid return to its original unwrinkled state when tension is released. It may be mentioned that abnormal looseness of the skin can occur as an isolated abnormality unrelated to the Ehlers-Danlos syndrome, when it should be referred to as cutis hyperelastica. Hyperextensibility of the joints is presumably due to an abnormality of the mesodermal tissue in the joint capsule analogous to that of the skin. It is not associated with any radiological alteration in the joints. Nodules in the skin, which are described in the majority of these patients, are of two main types, though there appears to be some confusion in the terminology. The subcutaneous, freely movable nodules described by Parkes Weber and Aitken (1938) and Tobias (1934) appear histologically tobe small lipomata. The soft, raised thickenings of the skin which follow bruising are most probably due to organization taking 'place in the haematomata. Ronchese (1936) states that these nodules contain numerous foreign-body giant cells. Marked epicanthic folds, which occurred in both our cases described below, have also been noted by Benjamin and Weiner (1943) and others, and could be included as one of the chief characteristics of the syndrome.