Association between venous leg ulcers and sex chromosome anomalies in men.
We report here two cases of men, aged 46 and 23 years, with refractory chronic venous leg ulcers in association with sex chromosome aberrations: one with a 47,XXY/48,XXXY karyotype (Klinefelter syndrome) and the other with a 47,XYY karyotype (Jacob syndrome). In both patients, the occurrence of leg ulcers was the reason for seeking medical care; their medical history was other-wise unremarkable. Chromosomal analyses were performed due to the unusually young age for development of venous leg ulcers. The pathophysiology behind the occurrence of venous leg ulcers in patients with numerical aberrations of the sex chromosomes is incompletely understood. Involvement of elevated plasminogen activator inhibitor-1 levels in the pathogenesis of venous leg ulcers has been reported in patients with Klinefelter syndrome. Notably, our patient with 47,XXY/48,XXXY presented with androgen deficiency but normal plasminogen activator inhibitor-1 activity.
Department of Dermatology, Medical University Innsbruck, Austria.
Cornelia
C
Gattringer
Christine
C
Scheurecker
Reinhard
R
Höpfl
Hansgeorg
H
Müller
D001317:Austria; D015415:Biomarkers / Q000097:blood; D020022:Genetic Predisposition to Disease; D020249:Hormone Replacement Therapy; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000097:blood / Q000235:genetics* / Q000628:therapy; D008297:Male; D008875:Middle Aged; D017395:Plasminogen Activator Inhibitor 1 / Q000097:blood; D012307:Risk Factors; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000097:blood / Q000235:genetics* / Q000628:therapy; D016038:Skin Transplantation; D013739:Testosterone / Q000172:deficiency / Q000627:therapeutic use; D016896:Treatment Outcome; D014647:Varicose Ulcer / Q000097:blood / Q000235:genetics* / Q000628:therapy; D014656:Vascular Surgical Procedures; D055815:Young Adult
D015415:Biomarkers; D017395:Plasminogen Activator Inhibitor 1; C051321:SERPINE1 protein, human; D013739:Testosterone