other connective tissue disorders

Ehlers-Danlos syndrome

definition

· heterogenous disorder

· characterised by

· abnormal skin laxity

· joint hypermobility

· vascular fragility

epidemiology

· uncommon (1 in 150 000)

· usually autosomal dominant

clinical features

Skin

· hyperextensible

· soft doughy texture

· fragile with easy bruising

· poor scar formation

· scars over prominences like cigarette paper

Joint hypermobility

· worst in infancy

· continues in 20% of adults

· problems of

· recurrent dislocations

· effusions with trauma

· scoliosis

Connective tissue fragility

· of all body parts

Arterial involvement

· aneurysms may develop

· spontaneous rupture may occur

Viscera

· diverticulae of colon, bladder and uterus

· spontaneous rupture of hollow viscus may occur

Other

· spontaneous pneumothorax

· mitral valve prolapse

· hernias

orthopaedic complications

Stabilisation of dislocation

· soft tissue procedures usually fail

· vessel fragility may cause severe bleeding

Larsen’s syndrome

· heterogenous condition

· present with

· marked joint laxity

· dislocation of hips

· instability of knees

· subluxation of radial head

· equinovarus feet

· dish-face appearance

· spinal deformities

Homocysteinuria

· inborn error of metabolism

· neonatal screening test

· autosomal recessive

· accumulation of homocysteine in production of cysteine

· leads to

· osteoporosis

· mental retardation

· Marfanoid habitus with stiff joints

· inferior lens dislocation

· diagnosed by finding increased homocystine in urine

· treated with dietary modification