M.B., B.S., F.R.C.S. P. J. WITHEROW* M.B., Ch.B., F.R.C.S
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Postgrad Med J: first published as 10.1136/pgmj.53.622.464 on 1 August 1977. Downloaded from Postgraduate Medical Journal (August 1977) 53, 464-470. Perthes' disease and multiple epiphyseal dysplasia H. E. D. GRIFFITHS P. J. WITHEROW* M.B., B.S., F.R.C.S. M.B., Ch.B., F.R.C.S. Southmead Hospital, Bristol and *Royal Hospitalfor Sick Children, Bristol Summary different modes of inheritance. The first description Five atypical cases were observed amongst ninety of the condition was that of Fairbank (1947), who children with Perthes' disease, ten of whom had reported twenty cases with a slight male preponder- bilateral hip joint involvement. All five were boys, ance. He particularly noted the epiphyseal changes, four being under 4 years of age. Four had bilateral hip reduction in overall height, platyspondyly, stubby joint disease, four presented with hip pain, three fingers and retardation of bone age. Although at that showing some degree of retardation of bone growth. time Fairbank felt that the condition was not In one case the hip disorder was familial, and in four heritable, later reports showed that both autosomal there were bony abnormalities elsewhere. dominant and recessive inheritance occurs. Despite the absence of the classic signs of multiple Other forms of epiphyseal involvement have been epiphyseal dysplasia, a mild form of this condition is a reported. Waugh (1952) described three sisters with Protected by copyright. possible alternative diagnosis for these children. abnormal hips amongst a sibship of eight, but none Racial and familial differences are known in the was stated to have had hip joint symptoms. In prevalence of Perthes' disease which itself may addition, the affected members of this family were represent a dysplasia. The pathogenesis of Perthes' dwarfed and had short digits. Maudsley (1955) disease is still uncertain, although some abnormality reported fourteen cases in three families, those of the blood supply to the proximal femoral epiphysis affected having reduced height and involvement of is postulated. That such a vascular defect may be the epiphyses of the hips, ankles, knees and spine engrafted on to multiple epiphyseal dysplasia is in decreasing order of frequency. Other families possible, with subsequent joint degeneration which with abnormalities of the knee and ankle have been may come to resemble Perthes' disease either clinically described, as also has an association with osteo- or radiologically. A plea is made for the closer study chondritis dissecans (Odman, 1959). Families have of young children presenting with what may seem to be also been reported where the hip alone has been atypical Perthes' disease. affected (Elsbach, 1959). http://pmj.bmj.com/ This last group is similar to or identical with the THE study of Perthes' disease presents problems of cases of 'familial Perthes' disease' described in the aetiology, pathology and diagnosis. The clinical 1940s. In these patients transmission appeared to presentation varies and the outcome is uncertain. be as an autosomal dominant traced by Stephens and Some patients, particularly those afflicted early in Kerby (1946) through five generations. The sex life and those with no symptoms, appear to have a incidence is equal, contrasting with the usual five better prognosis. The authors suspected that in males to one female amongst patients with non- some patients this more favourable outcome might familial Perthes' disease. The proportion of bilateral on September 23, 2021 by guest. be due to their condition being in fact multiple cases was close to 50O%, which again differs strikingly epiphyseal dysplasia rather than true Perthes' from the 10% of bilateral cases usually found disease. amongst most series of patients with Perthes' In this series of ninety children with Perthes' disease. disease, ten were affected bilaterally. Of these patients, one with unilateral and four with bilateral Case reports disease had atypical features including, in some, Case I multiple epiphyseal abnormalities which did not A boy aged 4 years presented with a limp (Fig. 1). seem to fit neatly into any consistent diagnostic Little was thought of this until his father waddled pattern. in-overweight and complaining of hip pain. The Multiple epiphyseal dysplasia is a term covering boy's progress over the next 3 years was unremark- various forms of epiphyseal involvement and having able from the Perthes' disease viewpoint, but Perthes' disease and epiphyseal dysplasia 465 Postgrad Med J: first published as 10.1136/pgmj.53.622.464 on 1 August 1977. Downloaded from within 2 years of onset he began to complain of below the 3rd centile. There was no sign of hypo- pain in his knee, and radiographs showed a defect thyroidism. in his distal femoral epiphysis strongly resembling Four of these five patients presented with pain in osteochondritis dissecans. His father's hip radio- the hip. If these are, in fact, minor manifestations of graphs (Fig. 2) showed shortened femoral necks, multiple epiphyseal dysplasia it is interesting to flattened heads and externally rotated hips. Quite by speculate on the reason for the development of hip accident, the authors discovered that his cousin pain early in childhood. Is there really a common also had Perthes' disease, this girl being the daughter pathogenesis between this and Perthes' disease? of the paternal grandfather's daughter (Fig. 3). In addition to the femoral epiphyseal changes there were abnormalities in the epiphyses of her feet, but Discussion the hands were normal. This girl's mother's hips were The postulated pathology of Perthes' disease and radiologically dysplastic. More recently another the relevance of Trueta's work (1957) in the blood cousin has presented with osteochondritis dissecans supply of the femoral head is well known. of the knee. Paediatric and radiological colleagues Anatomical variations in vasculature of the proximal of the authors have examined these two families femoral epiphysis may account for the appearance and would rather regard their condition as familial of Perthes' disease in certain subjects and such Perthes' disease than as multiple epiphyseal dys- abnormalities or variations may have a heritable plasia. background. There is certainly racial variation in prevalence. Fisher (1972) found that black races Case 2 are less often afflicted than white, although it has The hips of a 3-year-old boy (Fig. 4) showed been said that Perthes' disease is common amongst delay in the appearance of the capital femoral Nigerians. Kemp (1973) has suggested that super- epiphyseal centres. When they did appear at the ficially placed blood vessels supplying the femoral Protected by copyright. age of 7 years they were small and fragmented head may be obliterated by a rise in intra-articular (Fig. 5). He also had minor changes in the proximal pressure such as may occur in the effusion of a non- tibial epiphyses (Fig. 6). specific synovitis of the hip. His views are based upon experimental work with dogs and it is perhaps Case 3 significant that he found some breeds susceptible to This 11-year-old boy presented with an irritable joint changes, e.g. miniature poodles, whilst beagles left hip, and radiography displayed bilateral Perthes'- and Jack Russell terriers were not. In Perthes' disease like changes (Fig. 7). His right hip was symptomless. there may be delayed incorporation of retinacular His height was on the 25th centile and there was vessels into the substance of the femoral neck. It is reversal of the normal carrying angle of the elbow possible that avascularity could be superimposed and he had mild genu varum. Of his two brothers, upon epiphyseal dysplasia in some cases and, indeed, one whose height is on the 50th centile has normal there may be predisposing factors in the relationship of the retinacular vessels to the femoral head and elbows but the other whose height lies on the 10th http://pmj.bmj.com/ centile has similar varus elbows but normal hip neck. radiographs. The available pathological studies on Perthes' disease show frequent fissuring and fibrillation of the articular cartilage often associated with subsidence Case 4 of the subchondral bone (Mizuno et al., 1966). At the age of 30 months this boy appeared with But such changes may well be secondary. It is con- radiological changes in his hips and minimal ceivable that structural failure of the epiphyseal symptoms (Figs 8 and 9). He also had abnormalities cartilage could occur in the hip joint in minor on September 23, 2021 by guest. in the foot, with a dome-shaped talus (Fig. 10), some degrees in epiphyseal dysplasia, although the report metatarsal epiphyseal abnormalities (Fig. 11) and of Hunt et al. (1967) described thickening of the minor irregularity of the distal tibial epiphysis. His articular cartilage. Their material was obtained toes were stubby, but his overall height and weight following through-hip amputation for osteosarcoma were normal. in a child with epiphyseal dysplasia. They described, in addition to the thickened articular cartilage, Case 5 disarray of epiphyseal ossification with bars of This child had an abdominal radiograph after hyaline cartilage extending into the diaphysis. In the swallowing a pin. Abnormal femoral epiphysis were epiphyseal cartilage itself vertical clefts, focal noted at the age of 3 years but he had no hip symp- calcified deposits and irregular matrix staining were toms either then or 1 year later. His family history also noted. was unrevealing, but his height and weight lay well A further feature common to Perthes' disease and 466 H. E. D. Griffiths and P. J. Witherow Postgrad Med J: first published as 10.1136/pgmj.53.622.464 on 1 August 1977. Downloaded from ---- FIG. 1. Perthes'-like changes in the right hip joint at age of 4 years. Protected by copyright. http://pmj.bmj.com/ :~~~~~~~~~~~~~~~~~~~~... 'N:c: $~~~~~~~~~~~~~~~~~~~~~h Di' iilS'°'d. N ~~~~~~~~'i on September 23, 2021 by guest.