[en] Background: The Ehlers-Danlos syndrome (EDS) represents a heterogenous group of heritable connective tissue disorders chiefly characterized by joint laxity, increased skin distensibility and connective tissue fragility. Each EDS type corresponds to a multisystemic disorder with widespread implications. Physicians evoke the EDS diagnosis in presence of some typical cutaneous signs, such as atrophic scars and frequent hematomas.
Methods: To revisit the transmission electron microscopy support from skin biopsies when screening EDS in gynecology-obstetrics.
Results: EDS women commonly suffer from a series of gynecologic and obstetric disorders. Dermal ultrastructural changes are keynote features suggesting some EDS types.
Conclusion: Gene mutations are mostly identified in the classic and vascular EDS types, but only in sporadic cases of the hypermobile EDS type which apparently represents the most frequent type. Dermal ultrastructural changes represent relevant diagnostic clues for the practitioner. Preconception counseling about possible complications is welcome. Management requires precise diagnosis of the EDS type.
Disciplines :
Dermatology
Author, co-author :
Hermanns-Lê, Trinh ; Université de Liège - ULiège > Département des sciences cliniques > Dermatopathologie
PIERARD, Gérald ; Centre Hospitalier Universitaire de Liège - CHU > Dermatopathologie
FRANCHIMONT, Claudine ; Centre Hospitalier Universitaire de Liège - CHU > Dermatopathologie
Delvenne, Philippe ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Anatomie et cytologie pathologiques
Language :
English
Title :
Gynecologic and obstetric impact of the Ehlers-Danlos syndrome: clues from scrutinizing dermal ultrastructural alterations.