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Primary Idiopathic Osteolysis: Description of a Family 1074 Annals ofthe Rheumatic Diseases 1992; 51: 1074-1078 Ann Rheum Dis: first published as 10.1136/ard.51.9.1074 on 1 September 1992. Downloaded from CASE REPORTS Primary idiopathic osteolysis: description of a family Antonio Naranjo, Miguel A Muniain, Javier Martin, Jose Vazquez, Jose Nuniiez Abstract flexion of the fifth fingers of both hands. Her A clinical, analytical, and radiological study delivery and subsequent development were was carried out on three members of the same normal with no history oftrauma. Her symptoms family with multicentric idiopathic osteolysis. began with pain, slight swelling, and limitation Transmission appeared to be via the dominant of movement in her wrists at the age of 5 years, autosome present in the mother and two accentuated byslighttraumas. Shehadoccasional daughters. In the daughters osteolysis was pain in her elbows, right shoulder, dorsal spine, seen in the carpal and tarsal bones, whereas in left knee, and dorsum of the left foot, with the mother radiology showed it to be in the slight swelling in the left knee and foot. There phalanges of the hands and feet. were no constitutional symptoms, but she was depressive from 14 years of age. (Ann Rheum Dis 1992; 51: 1074-1078) On physical examination her blood pressure was 110/70 mmHg, her weight 45 kg, and height 155 cm. She was in good general health Primary idiopathic osteolysis is rare. It is but was of low intelligence. Her gait was normal characterised by the spontaneous onset of bone and her cervical spine slightly painful in left resorption and there are no known causative lateral flexion but with normal mobility. There factors. Bone which previously appeared was right convexity scoliosis of the dorsal normal undegoes partial or complete resorption. rachis. Her wrists had a painful flexoextension The process continues for several years then limitation at 200 and decreased bilateral strength. stops spontaneously.' The results of this The left ankle and midfoot were painful in destructive phenomenon are severe deformities planar flexion. There was pain when pressure and serious functional disabilities. The patho- was applied to the metatarsophalangeal joints of genetic mechanism of the osteolysis is not the left foot. She had also bilateral hallux valgus known. Malignant nephropathies can occur in and feet cava (grade II) with claw feet. some forms of the disease. Her differential blood count, globular sedi- http://ard.bmj.com/ Most workers agree that the first case of this mentation rate, and blood and urine chemistry syndrome was reported by Froelich2 who (creatinine, calcium, ;phosphorus, alkaline described an 18 year old girl with carpotarsal phosphatase, IgM rheumatoid factor, anti- osteolysis which had begun when she was two nuclear antibodies, and mucopolysaccharides in years old. In 1976 Tyler and Rosenbaum used urine) were normal. the term multicentric idiopathic osteolysis to Radiological examination showed deformity describe a rare disease usually occurring in the in the flexion of both fifth fingers and carpal on September 30, 2021 by guest. Protected copyright. carpotarsal area which was associated with osteolysis and hypoplasia of the tufts of the severe and extensive osteolysis and had pre- distal phalanges (fig 1). Figure 2 shows the viously been described under a variety of morphology of cava feet; the left foot was the names. These included idiopathic osteolysis, most affected and was 1 cm shorter and essential osteolysis, progressive essential osteo- narrower than the right. Osteolysis was present lysis, essential acro-osteolysis, familial osteolysis, in the tufts of the bilateral distal phalanges and hereditary osteolysis, carpotarsal agenesis, the tubular diameter of the left foot metatarsals familial carpal dysostosis, and bilateral carpal was decreased. Dorsal scoliosis and right con- necrosis. vexity of the rachis was seen. Spina bifida was Torg and Steel4 classified osteolysis into four classified as SI. There was slight insufficiency types: multicentric idiopathic osteolysis with in the bilateral cotyloid cavity of the hips. No dominant transmission, multicentric idiopathic pathological features were noted in plain radio- Locomotor Department, recessive non- or elbows. Rheumatology Unit osteolysis with transmission, graphs of the thorax, skull, knees, (Hospital San Juan hereditary multicentric idiopathic osteolysis No pathological study was performed. de Dios) and Medicine with nephropathy, and Gorham's massive The patient remains asymptomatic with a Department (University osteolysis. MacPherson et al 5 added a fifth moderate decrease in hand strength; in of of Seville), Seville, Spain spite A Naranjo type: Winchester's syndrome. this her functional capacity is good. She has M A Muniain In this paper we report the case of a family orthoses for her feet. J Martin with osteolysis and review J Vazquez primary idiopathic J Nuniez previously published cases. PATIENT NO 2 Correspondence to: Dr A Naranjo, Gravina, This 4 year old girl, the sister of patient No 1, 41-7B, 35010-Las Palmas, Canary Islands, Spain Case reports had a normal delivery and began walking at 12 Accepted for publication PATIENT NO 1 months. At 18 months she had a slight electric 13 March 1992 This 18 year old woman has deformity in the shock to the left hand. From 2 years of age she Primary idiopathic osteolysis 1075 had pain in her left wrist and ankle without Ann Rheum Dis: first published as 10.1136/ard.51.9.1074 on 1 September 1992. Downloaded from swelling accompanied by slight functional impairment. Her mother reported a decrease in the size of her left leg and foot. was 95/60 mmHg, her weight 26 kg, and height 104 cm. She was in good general health and her intelligence and hearing were normal. There was slight lameness of her left foot. Her left wrist was painful with limited flexoextension and her left leg and foot hypotrophied compared with the right and were painful on movement of _& _ the;0ankle;i and midfoot. Laboratory investigations were normal. .............Radiological examination showed normal bone age. Initial osteolysis of the left carpus was Figure I Hand radiographs ofpatient No I (aged 18years) showing diffuse osteoporosis. seen (fig 3). There was osteoporosis of her left Both carpusjoints have disappeared. Sharpening ofthe base ofthe metacarpaljoints can foot with sclerosis and a decrease in size of the be seen. scaphoids and narrowing ofthe midfoot articular spaces. Her right foot was normal. Plain radio- graphs of her skull, rachis, thorax, hips, and knees were normal. The patient remains stable with slight arth- ralgias in the left wrist and foot. Treatment consists of aspirin and wrist ferules. PATIENT NO 3 This patient is the 40 year old mother of patients 1 and 2. There are no antecedents of consanguinity. The patient has reported flexion deformities of her fingers without pain since adolescence and pain in the soles of her feet for the past 15 years. For the last five years she has had arthralgias in the proximal interphalanges of her hands. On physical examination her blood pressure http://ard.bmj.com/ was 105/75 mmHg, her weight 56 kg and height 155 cm. She was in good general health. Deformities on flexion of the proximal inter- Figure 2 RadiographsforpatientNo 2 showing cavafoot. A decrease is seen in the size phalanges of the fourth and fifth right and ofthe astragalus, scaphoids, and cuneiforms, with irregularities and sclerosis in the articular spaces, though these were preserved. secondscn andn thirdhr leftetfneswrfingers were seen.en Sheh hada feet cava (grade II) with subcutaneous fibrosis in the first right metatarsal joint. on September 30, 2021 by guest. Protected copyright. A complete series of laboratory tests was carried out as in cases 1 and 2. The results were normal or negative. Radiological examination showed osteolysis in the tufts of the distal phalanges of her hands with sharpening of the epiphysis in some middle phalanges. Her feet showed osteolysis in the tufts of the distal phalanges and to a lesser extent in the proximal joints. Plain radiographs of the skull, rachis, thorax, and pelvis were normal. OTHER FAMILY MEMBERS The rest of the family (three children and the father) were also examined clinically, analy- tically, and radiologically (fig 4). Idiopathic osteolysis and nephropathy were discounted after the examinations. Strabismus and dorsal scoliosis with right convexity were found in the 15 year old sister. She also had feet cava (grade Figure 3 Radiograph of _ II) with claw toes and hallux valgus. Mild dorsal shev ingsclerosis and t.No. scoliosis, Sever's disease, and cava feet were fragmentation ofthe bones found in the 11 year old brother. Another 16 ofthe carpus. year old boy had cava feet. 1076 Naranjo, Muniain, Martin, Vdzquez, Nuinez deformities appear, such as a shortening of the Ann Rheum Dis: first published as 10.1136/ard.51.9.1074 on 1 September 1992. Downloaded from affected areas, ulnar deviation, instability of the wrist, and complete dissolution of the affected bones which can be associated with extrusion of bone by sequestrum through the adjacent skin8 and on other occasions with fusion of the carpal *0 0 *0 *0 bones.'4 The disease tends to stabilise around the age of 35, although recurrences have been reported.3 Man, woman affected with Idiopathic osteolysis as seen radiographically osteolysis produces a slow and progressive resorption of bone affecting principally the carpal, tarsal, DO Unaffected metacarpal, metatarsal, and elbow joints. Initially, erosions with well defined sclerotic * Scoliosis edges and osteoporosis are observed, which 0 Cava feet eventually present fragmentation, sequestrum, and necrosis, and occasionally the complete disappearance of the affected bones.22 The Figure 4 Family pedigree. ulnar and radial then draw nearer to the metacarpal joints, the edges of which present a sharpened appearance. This can also be observed Discussion in the phalanges.' 23 Osteolysis is seen in the In the family presented in this paper radio- larger joints but predominantly in the elbow.
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