Internal Medicine

P1: OXT/OZN/JDO P2: PSB

0521779407-E-01 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:10

520 Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome...............................

MICHAEL WARD, MD

history & physical

History

■Hyperextensible joints

■Soft, velvety, hyperextensible skin

■Easy bruising

■Dystrophic scarring after surgery or minor trauma

■Family history of same (some types autosomal dominant)

Signs & Symptoms

■Type I (gravis): hyperextensible joints and skin, easy bruising, thin

“cigarette paper” scars, varicose veins, mitral valve prolapse, pes

planus deformity, premature osteoarthritis, prematurity at birth

■Type II (mitis): same as type I, but less severe, no prematurity

■Type III (familial hypermobility): hyperextensible joints, joint dislo-

cations, mildly hyperextensible skin, normal scarring

■Type IV (vascular): thin translucent skin with prominent venous pat-

tern, marked bruising, thin nose and lips, spontaneous arterial rup-

ture with massive hematoma, stroke, or death, spontaneous bowel

rupture, uterine rupture during pregnancy, mitral valve prolapse,

hypermobility limited to distal interphalangeal joints, friable tissues

at surgery

■Type V (X-linked): similar to Type II, males only

■Type VI (ocular): corneal fragility, blue sclerae, retinal detachment,

glaucoma, hyperextensible skin and joints, severe scoliosis

■Type VII (arthrochalasis multiplex congenita): hyperextensible skin

and joints, congenital hip dislocations, recurrent joint dislocations,

moderate bruisability

■Type VIII (periodontal): severe periodontitis with loss of teeth, mod-

erate skin fragility and joint hyperextensibility

■Type IX: occipital horns, short humerus, short broad clavicles,

chronic diarrhea, bladder diverticuli and rupture, mild skin hyper-

extensibility. X-linked (males only).

■Type X: mild joint hyperextensibility, easy bruising, abnormal plate-

let aggregation

tests

Basic Tests

■Radiographs of painful joints, and of spine to detect scoliosis