Ehlers-Danlos syndrome type II: importance of recognition.
We report a case of Ehlers-Danlos syndrome Type II presenting with subtle clinical features and discuss the importance of early recognition of this disorder. A 16 year old Caucasian schoolgirl presented with soft tissue swellings on her fingers. There was a history of poor wound healing and prematurity and a family history of miscarriages. Clinical examination revealed hypermobile joints, hyperelastic skin and a 'cigarette paper' scar at the site of a previous minor surgical excision. Management consisted of genetic counselling and advice concerning career choice, recreational activities, as well as future pregnancy and surgery. This subtype of Ehlers-Danlos syndrome is probably fairly common in the community. While it may present with subtle clinical features, recognition is important so that counselling can be offered at a young age in order to avoid the major consequences that may arise during pregnancy and surgery.
D000293:Adolescent; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D005385:Fingers; D005817:Genetic Counseling; D006801:Humans; D012307:Risk Factors