Myositis Ossificans Progressiva

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Myositis Ossificans Progressiva Ann Rheum Dis: first published as 10.1136/ard.24.3.267 on 1 May 1965. Downloaded from Ann. rheum. Dis. (1965), 24, 267. MYOSITIS OSSIFICANS PROGRESSIVA BY E. FLETCHER AND M. S. MOSS From the Belfast City Hospital, Northern Ireland Myositis ossificans progressiva is a rare disease, inanition due to involvement of the masseter and and most observers have described only single cases temporalis muscles. Nevertheless, it is remarkable in their own experience. The most recent compre- that some of these patients have survived to middle hensive survey of the condition has been given by age or longer in spite of severe disablement, e.g. 51 Lutwak (1964), according to whom about 260 cases years at least in the case described by Koontz (1927) fitting the description of the disease have appeared and 61 years in a case described by Fairbank (1951). in the literature since about 1670. The aetiology of the disease remains unknown, but McKusick Clinical Features.-These can be conveniently copyright. (1960) considered that fundamental disorder resided considered under two headings. in connective tissue, and he adopted the name (.1) Congenital anomalies of the skeleton are fibrodysplasia ossificans progressiva, a terminology important, for they can be recognized at birth or first suggested by Bauer and Bode (1940). Never- before ectopic ossification makes the diagnosis theless the term "myositis" remains firmly estab- obvious. Helferich (1879) first pointed out the lished in the literature, although involvement of association of microdactyly with the condition. muscle fibres occurs only in a secondary fashion. The great toe is most frequently affected, the thumb http://ard.bmj.com/ McKusick (1960) included the disease among the in about half the cases, and at times other digits likely hereditary disorders of connective tissue (McKusick, 1960). Hallux valgus is almost always probably inherited as a Mendelian dominant with present. Clinodactyly may also occur. These irregular penetrance. The diagnosis depends upon bony abnormalities are usually symmetrical. Exos- clinical and radiological examination, the changes toses may develop, usually replacing sesamoid bones. in the latter being outstanding when the disease is (2) The effects ofthe process ofectopic ossification. advanced. The cardinal feature is ectopic ossifica- In the early stages of the disease in children, localized on September 28, 2021 by guest. Protected tion frequently associated with congenital anomalies painful swellings may appear, especially in the neck, of the digits, especially the thumb and great toe. back, and limbs. Their appearance may be related The pathological process is well defined. Ectopic to minor trauma. The swellings may contain blood ossification begins in the fascia, muscle tendons, and and they may ulcerate and discharge their contents. aponeuroses, usually before the age of 10 years, or During their formation and absorption systemic even during foetal life (Hutchinson, 1860; Rosenstirn, effects may occur with joint pains and pyrexia 1918; Mair, 1932). More rarely it is delayed until resembling rheumatic fever (Ryan, 1945). Involve- after the age of 20 years (Frejka, 1929; Hirsch and ment of the sternomastoid muscles leads to typical Low-Beer, 1929). Although remissions may occur wryneck deformity. The plantar and palmar fasciae in the early stages of the disease, its progress is may be involved. According to McKusick (1960), relentless until the patient is immobilized by plates the tongue, larynx, heart, diaphragm, sphincters, of bone replacing tendons, fasciae, and ligaments. eye muscles, perineal muscles, and abdominal wall No treatment yet available can influence the end- muscles enjoy immunity from the disease. In the result of bedridden helplessness. Death usually advanced stage of the disease the trunk is enveloped results from respiratory embarrassment or from in sheets of bone. 267 Ann Rheum Dis: first published as 10.1136/ard.24.3.267 on 1 May 1965. Downloaded from 268268~~ANNALSOF THE RHEUMATIC DISEASES Case Report He was helpless and had no movement at any of the The patient was first seen in Hospital at the age of 5 large joints of the limbs. The spine was rigid and he years with a history of pains in the limbs and a painful could not move his head. There was gross muscle 1 illustrates torticollis at this time before wasting and stony hard masses were palpable in the wryneck. Fig. on and in the a corrective operation for this condition. During his shoulder girdle and the back of the thorax school days from 6 to 14 years his arms were always weak lumbar region. It was not possible to separate his and sometimes sore, and he frequently had "lockjaw" so edentulous gums and nutrition was maintained by tube that he had difficulty in swallowing solids. From the feeding of fluids round the outer margins of the gums. age of 14 to 22 years he worked as a clerk, but during There was no sphincter disturbance and, in spite of years these years his limbs stiffened up, and at the age of 24 in bed, there were no bed sores. The muscles of expres- he was so "doubled to his own sion in the face and the eye muscles were functioning years up" according an of description, that he was completely helpless. He was normally. Each foot showed extreme degree bedridden for the next 16 years and was cared for at home hallux valgus and the other digits showed hammer toe by his mother until admitted to Hospital as an emergency deformities; great toes were normal in length. The left at the age of 40 years. The reason for hospitalization hand only showed clinodactyly of the little finger. Each was that feeding became impossible as his jaws were thumb appeared to be of normal length and appeared to tightly clenched and could not be separated. Fig. 2 consist of a single bone due to synostosis of the phalanges. illustrates his general appearance at this time. The heart sounds were normal, and there were no cardiac murmurs. The blood pressure was 130/70 mm. Hg, and there was normal arterial pulsation in the limbs. Radiological Changes.-In spite of the patient's in- capacity a radiological survey of all regions of the body was carried out for evidence of the distribution of ectopic ossification and congenital skeletal abnormalities. Plates of bone replaced the muscles of the shoulder girdles and thoracic wall. The lumbar muscles were also replaced by bone. There were no deposits of bone in copyright. the neck, anterior abdominal wall, or lower limbs. Ectopic ossification is shown in Figs 3 and 4 (opposite) and Fig. 5 (overleaf). An incidental finding in Fig. 3 was a right-sided aortic arch. Tomography showed no evidence of ossification of heart muscle. The abnormalities of the skeleton are shown in Figs 6 and 7 (overleaf). http://ard.bmj.com/ Fig. 3.-Right-sided, aortic arch. Thick plates of bone anchor the humeri to the thoracic wall. The left ribs are thin and malformed. Fused ribs can be seen on both sides. The left shoulder joint is ankylosed, and the left humerus malformed and atrophic. Fig. 4.-Plates of bone anchor the pelvic bones to the femur on each side. The hip joints are ankylosed. The femoral heads are osteo- Fig. l.-Torticollis in a patient aged 5 years. porotic. on September 28, 2021 by guest. Protected :4." I MR Fig. 2.-Patient bedridden, aged 40 years. Note deformity of great toe. Intelligent face. Jaws clenched tight and immobile. Ocular muscles and facial muscles of expression normal. Ann Rheum Dis: first published as 10.1136/ard.24.3.267 on 1 May 1965. Downloaded from MYOSITIS OSSIFICANS PROGRESSIVA 269 Fig. 3 copyright. http://ard.bmj.com/ on September 28, 2021 by guest. Protected Fig. 4. Ann Rheum Dis: first published as 10.1136/ard.24.3.267 on 1 May 1965. Downloaded from 270 ANNALS OF THE RHEUMATIC DISEASES copyright. http://ard.bmj.com/ Fig. 6.-Right foot. The proximal phalanx of the great toe is mal- formed and fused with the adjacent metatarsal bone (synostosis). Fig. 5.-A plate of bone connects the crest of the ilium to the back of The second phalanx is subluxated laterally dorsal to the second and the lower ribs. Note also advanced spondylosis with scoliosis and third toes giving rise to extreme hallux valgus. The fourth toe is osteoporosis of lumbar spine. subluxated laterally at the metacarpophalangeal joint. The second, third, and fifth toes have hammer toe deformities. The third, fourth, and fifth metatarsal bones are webbed together by new bone formation at their bases. A large exostosis at the head of the first metatarsal Laboratory Findings.-Price's precipitation reaction bone projects laterally beneath the second metatarsal bone. and the Wassermann reaction were negative. Muscle Biopsy.-Pectoralis major muscle fibres show on September 28, 2021 by guest. Protected Serum calcium 9 * 5 mg. per cent., serum phosphate 3 * 8 variation in size, some of them being very small. This mg. per cent., serum proteins total 8 3 g. per cent. change is associated with sarcolemma proliferation and (albumin 4-3 g., globulins 4 g.), serum electrophoresis some fibrosis. There is no arteritis or interstitial in- showed increase in alpha2 globulin and slight increase in flammatory cell infiltration. The appearances are con- gamma globulin. Alkali reserve 28 mEq/litre, serum sistent with a diagnosis of muscular dystrophy. sodium 132 mEq/litre, serum potassium 4-2 mEq/litre, is urea 34 Electrocardiogram.-The tracing (Fig. 8, opposite) serum chloride 88 mEq/litre. Blood mg. per grossly abnormal. There is a minor degree of intra- cent. Serum alkaline phosphatase 10 King Armstrong ventricular block, and abnormal repolarization of the units, serum acid phosphatase 9 King Armstrong units. S.G.O.T. 34 units, Serum aldolase 13 units/ml.
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