Cutaneous peculiarities in blepharophimosis-ptosis-epicanthus inversus syndrome: report of a case.
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare inherited disorder with characteristic oculofacial affection of the eyelid region. Recent results of genetic analysis of the causative gene, as well as a hitherto unknown association with hormone-dependent endometrial carcinoma, motivated us to review this syndrome.
Möhrenschlager
M
M
Department of Dermatology and Allergy Biederstein, Technical University of Munich, Germany.
Wessner
D B
DB
Abeck
D
D
Ring
J
J
D016569:Blepharophimosis / Q000175:diagnosis / Q000235:genetics*; D001763:Blepharoptosis / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D006801:Humans; D012871:Skin Diseases / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome