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Aarskog-Scott syndrome is a rare genetic disease affecting the development of many different parts of the body. This condition mainly affects males, although females may have mild features of the syndrome. Patients often have distinctive facial features, such as ocular hypertelorism, anteverted nostris, small nose, long philtrum and a widow’s peak hairline. Short stature, hand abnormalities, shawl scrotum, cryptorchidism, hernies and lymphoedema is also common. Anaemia, Hepatopathia, interstitial lung disease and heart anomalia are reported. Mutations in the X-linked FDG1 gene (Xp11.21) have been identified.
We report the case of a 61yrs. old patient asigned to our department with a hemorrhagic bulloid erysipela following elephantiasis. Our assessment identified an Aarskog-Scott syndrome as underlying primary disease.
Conclusion: Aarskog-Scott syndrome is a rare, but important differentialdiagnosis in case of primar lymphoedema especially in the context of other anomalias.