Ehlers-Danlos syndrome is heterogeneous in its genetic origins, molecular defects, and ultrastructure of connective tissues (CT). It frequently represents underdiagnosed heritable conditions.
The altered mechanical functions of the involved tissues lead to variable combinations of increased skin distensibility and elasticity, joint laxity and CT fragility.
In addition, EDS women commonly suffer from some gynecologic and obstetric disorders. In most instances, the diagnosis is based on selected clinical criteria.
Dermal ultrastructural changes show representative patterns suggesting some EDS types: the collagen and elastic fibres are altered in the dermis, ligaments, vessel walls and internal organs.
Although EDS is presumed to be a rare condition, physicians should view the disease outside the limits of conventional medical practices. Women are at risk of adverse pregnancy outcomes and various menstrual abnormalities. A multidisciplinary approach is usually welcome.
