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

Abstract

We present the case of a young man with type II diabetes, stage III chronic kidney disease, hypertension, obstructive sleep apnea and diabetes who presented to the Georgetown University Hospital Center for Wound Healing with refractory lower extremity ulcers. Autoimmune work-up was negative. However, chromosome analysis showed a genetic variant of Klinefelter’s syndrome (48 XXYY). Lower extremity ulceration is a recognised complication of Klinefelter’s syndrome. The pathogenesis of ulcers in this endocrinopathy is unclear, but associations with abnormalities of fibrinolysis and prothrombotic states are reported. This case emphasises the importance of considering Klinefelter’s syndrome in the differential diagnosis of a sterile male patient with non healing lower extremity ulcers.

Spontaneous Pelvic Rupture as a Result of Renal Colic in a Patient with Klinefelter Syndrome

“…This is the most common disorder of sex chromosomes in humans, with prevalence of 1 in 500 males, which can lead not only to infertility but to structural alterations in tissues as well [9]. Effects of trophic tissue impairment in Klinefelter syndrome can manifest in different ways—leg ulcers, heart diseases, and rheumatic disease [10]. Hereupon, it is tempting to speculate about the relationship between changes in the wall of the pelvis as a result of Klinefelter syndrome and spontaneous rupture of renal pelvis.…”

Caring for Patients With Chronic Wounds: Safety Considerations During the Surgical Experience

“…The etiology of chronic wounds includes trauma, venous disease, ischemia, pressure, infection, autoimmune disease, coagulopathies, and diabetes 5 . Safe and effective treatment of patients who have chronic wounds related to diabetes requires a systematic, patient‐centered approach.…”

Chronic wounds – Recommendations for diagnostics and therapy

“…Heritable thrombophilia is also discussed for patients with klinefelter syndrome and chronic leg ulcers. Increased frequency of obesity, chronic venous insufficiency and arterial dysplasia in this syndrome are supposed to increase the rate of non-healing leg ulcers in affected patients, but moreover an increase of plasminogen-activator-inhibitor and subsequent VTE are discussed (13).…”