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Ehlers Danlos syndrome (EDS) is a group of disorders involving skin, joints and other tissues; the prevalence
of all types is 1/5000. The diagnosis is clinical and confirmatory testing is available only for several types. Classical EDS (formerly referred to as EDSI and EDSII) consist of skin hyperextensibility, widened atrophic scars and joint hypermobility.
Those with hypermobility EDS (EDSIII) have mildly hyperextensible skin, normal wound healing, joint hypermobility, frequent dislocations and chronic joint pain. An autosomal recessive form, called tenascin X deficiency, is similar to the hypermobility form, but no clinical testing is available. Vascular EDS (EDSIV) consists of thin translucent skin, arterial/intestinal uterine fragility or rupture, extensive bruising and distal joint hypermobility. Kyphoscoliosis EDS (EDS VI) consists of joint laxity, scoliosis, scleral fragility and rupture of ocular globe and keratoconus. It’s autosomal recessive due to lysyl hydroxylase deficiency. Arthrochalasia (EDS VIIB) consists of hypermobility with recurrent subluxations, congenital hip dislocations, thoracolumbar scoliosis and short stature. It’s autosomal dominant with particular mutations in the COL1A1 or COL1A2 genes. Dematosparaxis (EDSVIIC) consists of severe skin fragility, sagging skin and large hernias. It’s autosomal recessive
due to deficiency of procollagen I N-terminal peptidase.
EDS should be suspected when a child presents with a combination of joint hypermobility, multiple joint dislocations, translucent skin, poor wound healing, easy bruising and unusual scars. The mainstay of management is to prevent the complications of joint hypermobility, such as joint dislocations, chronic joint pain and early onset arthritis. Activities that are joint-sparing, such as swimming, should be encouraged. Repetitive activities, such as weight lifting, should be avoided.
Physical therapy can be done to strengthen muscles around the joints. Patients with the classical and vascular forms of EDS have poor wound healing, and sutures need to be kept in longer than usual. Invasive procedures, such as intramuscular and interarterial injections, should be avoided in patients with vascular EDS. Immediate evaluation of any sudden onset of pain or bleeding should be performed in patients with vascular EDS. Therapy with 1-2 gm of vitamin C is used for the kyphoscoliosis form and may also improve wound healing in vascular EDS.
—Joan Stoler, MD, clinical geneticist
Make a referral: childrenshospital.org/genetics or 617-355-6394
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