source: Proceedings of the Royal Society of Medicine
Case 1 Ehlers-Danlos Syndrome (X-linked Type)
D S, male, aged 12. Schoolboy
The patient has a marked degree of generalized hyperextensibility of the skin. A skin fold can be stretched for several centimetres and on release it immediately springs back to take up its former position. The fingers are moderately hyperextensible, but the patient is otherwise well in every way. Two brothers are similarly affected and in addition they both have a few wide thin scars on their knees, which are the result of the tendency of the skin to split on minor trauma. Both have molluscoid pseudotumours and recurrent effusions into the knee-joints have been troublesome. Skin biopsy from one of them showed changes characteristic of the Ehlers-Danlos syndrome. The patient’s mother is quite normal, but there are 3 other affected male relatives and the pedigree shows typical X-linked inheritance of the trait.
St Thomas's Hospital London
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