pediatrics
Ehlers Danlos Syndromes
Symptoms and Signs of Ehlers Danlos Syndromes
Symptoms and signs of Ehlers-Danlos syndromes vary widely, but certain manifestations are considered characteristic of different types. Predominant symptoms include hypermobile joints, abnormal scar formation and wound healing, fragile vessels, and velvety, hyperextensible skin. Skin can be stretched several centimeters but returns to normal when released. Wide papyraceous scars often overlie bony prominences, particularly elbows, knees, and shins; scarring is less severe in the hypermobile type. Molluscoid pseudotumors (fleshy outgrowths) frequently form on top of scars or at pressure points. Extent of joint hypermobility varies but may be marked in the arthrochalasis, classic, and hypermobile types. Bleeding tendency is rare, although the vascular type is characterized by vascular rupture and bruising. Subcutaneous calcified spherules may be palpated or seen on x-rays. Minor trauma may cause wide gaping wounds but little bleeding; surgical wound closure may be difficult because sutures tend to tear out of the fragile tissue. Surgical complications occur because of deep tissue fragility. Sclera may be fragile, leading to perforation of the globe in the kyphoscoliosis type. Bland synovial effusions, sprains, and dislocations occur frequently. Spinal kyphoscoliosis occurs in 25% of patients (especially in those with the kyphoscoliosis type), thoracic deformity in 20%, and Talipes Equinovarus (Clubfoot) and Other Foot Abnormalities in 5%. About 90% of affected adults have Gastrointestinal (GI) hernias and diverticula are common. Rarely, portions of the GI tract spontaneously hemorrhage and perforate, and dissecting aortic aneurysm and large arteries spontaneously rupture. Valvular prolapse is a common complication in the most severe type (vascular type). In pregnant women, tissue extensibility may cause premature birth, cervical incompetence, and possibly uterine rupture; if the fetus is affected, fetal membrane is fragile, sometimes resulting in early rupture. Maternal tissue fragility may complicate episiotomy or cesarean delivery. Antenatal, perinatal, and postnatal bleeding may occur. Other potentially serious complications include Arteriovenous Fistula , ruptured viscus, and pneumothorax or pneumohemothorax. 