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Ehlers-Danlos Syndrome
source: BMJ
year: 2007
authors: Gawthrop F, Mould R, Sperritt A, Neale F
summary/abstract:These three case histories illustrate the many problems facing patients with Ehlers-Danlos syndrome in its various forms.
Patient 1: Jacqueline Mould
At birth my daughter, Jacqueline, had very visible veins on her head and body. She bruised badly when she fell. The doctors said it was nothing—just thin skin. Then, when she was 12 years old she developed an unusual localised rash on her knees. A dermatologist said she had perforating elastoma. She was an “interesting case,” but he did not know the cause. At age 23 Jacqueline developed pain in her legs. The doctor said it was just varicose veins—there was nothing to be done except to avoid standing and to wear support stockings. The pain got worse and Jacqueline went for a hospital consultation. At the clinic blood was taken and she bled for 13 minutes. She was sent to a joint consultation with a haematologist and a dermatologist, who said she should see a specialist interested in the genetics of Ehlers-Danlos syndrome. Still we had no idea of what was going on.
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