Author/Editor		Laeuchli, S; Hafner, J; Burg, G
Title		Refractory leg ulcers in a patient with 48,XXYY, a rare variant of Klinefelter's syndrome
Type		članek
Source		Acta Dermatovenerol Alp Pannon Adriat
Vol. and No.		Letnik 11, št. 4
Publication year		2002
Volume		str. 129-32
Language		eng
Abstract		A case of a 17-year old boy with extensive ulcers on both lower legs is presented. Clinical examination showed an unusually tall stature, obesity and eunuchoid habitus. Chromosomal analysis revealed a karyotype of 48,XXYY, a rare variant of Klinefelter's syndrome (47,XX1). After treatment with moist gauze and many recurrences, rapid ulcer healing could be achieved with topical application of Factor XIII. Patients with 48,XXYY seem to be particularly prone to developing extensive leg ulcers. Possible etiologies include chronic venous insufficiency and microvascular disturbances as a consequence of fibrinolytic abnormalities. Differences between Klinefelter's syndrome (47,XX1) and 48,XXYY are discussed.
Descriptors		LEG ULCER KLINEFELTER'S SYNDROME KARYOTYPING FACTOR XIII ADOLESCENCE