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A 44 year old woman presented with a 12 month history of increasing left hip pain, particularly severe on weightbearing. On examination she had fine, sparse hair, a flattened nasal bridge, and short digits (fig 1 and fig 2). Her left hip was globally restricted and painful. Fifteen years previously her daughter attended a paediatric hospital with Perthes’ disease. An observant paediatrician diagnosed Trichorhinophalangeal syndrome (TRPS) type I in our patient, her father, paternal grandmother, a younger brother and her daughter. Radiographs of our patient’s hands showed typical changes with cone shaped modelling of the phalangeal epiphyses (fig 3). Radiographs of her pelvis showed features of avascular necrosis and advanced degenerative change of the left hip (fig 4).
TRPS is a rare autosomal dominant condition first described by Giedion in 19661 and thought to be caused by a deletion on chromosome 8q24.2 TRPS type I is characterised by the features illustrated and differs from TRPS type II, which also presents with multiple exostoses, short stature, and mental handicap. Hip abnormalities are common in children with TRPS as a result of epiphyseal dysplasia or avascular necrosis.3 Hip abnormalities presenting in adulthood are rare.
Contributors: a h johnson, d mulherin, t price.Department of Rheumatology, Cannock Chase Hospital, Cannock WS11 2XY.
Our patient has undergone a left total hip replacement and is recovering well.
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