Leg ulcers and Klinefelter's syndrome

Leg ulcers associated with Klinefelter's syndrome: a case report and review of the literature

“…Furthermore, the genotypic variant seen in our patient, 48 XXYY, has been found in several studies to have an even stronger association with cutaneous changes (9). Some authors have suggested that because of these findings and the increased risk of cognitive abnormalities associated with the 48XXYY karyotype, this particular karyotype should be identified as a separate entity (10–12).…”

“…Zollner et al (13) compared Klinefelter's syndrome patients with and without lower extremity ulcers and found a higher PAI‐1 activity in the group with ulcers. It has been hypothesised that the increase in PAI‐1 can lead to impairment of fibrinolysis causing development of microthrombi that contribute to skin ulceration (12). There is also data to suggest that the presence of the metabolic syndrome may contribute to elevation of PAI‐1 activity, because diabetes, arterial hypertension, hypertriglyceridaemia, smoking and reduced physical activity all influence PAI‐1 activity.…”

Evidence‐based (S3) guidelines for diagnostics and treatment of venous leg ulcers

“…Since venous leg ulcers in young patients are nearly always associated with severe CVI as congenital malformations/absence of the vena cava and/or non‐recanalized deep venous thrombosis, they should not be included in clinical therapeutical studies. Leg ulcers in white atrophy in Klinefelter patients also occur due to plasminogen inhibitor 1 deficiency . The prevalence among the elderly may be quite high (12.6% of leg ulcers (C5‐C6) in a Swedish rural population older than 70 years) .…”

Klinefelter Syndrome

“…3. More common varicose veins, venous stasis ulcers (Verp et al 1983;Veraart et al 1995), and thromboembolic disease. 4.…”