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Ehlers‐Danlos syndrome Type II: Importance of recognition
Author(s) -
Stanford Duncan G,
Georgouras Katherine E
Publication year - 1995
Publication title -
australasian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.67
H-Index - 53
eISSN - 1440-0960
pISSN - 0004-8380
DOI - 10.1111/j.1440-0960.1995.tb00958.x
Subject(s) - ehlers–danlos syndrome , medicine , pregnancy , surgery , dermatology , family history , physical examination , clinical history , biology , genetics
SUMMARY 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.