Diagnostic Radiology
Idiopathic Nonfamilial Aero-osteolysis with Cortical Defects and Mandibular Ramus Osteolysis 1
•
been previously reported. A review and classification of aero-osteolysis will be presented.
Louis A. Gilula, M.D., Johnny Bliznak, M.D.,2 and Tom W. Staple, M.D.3
CASE REPORT
A 20-year-old white woman of average intelligence complained of weakness in her left knee in October of 1973. She had injured it several times in the prior four years, most recently three weeks prior to admission. Her developmental history was unremarkable except for an open bite malocclusion which made mastication difficult. For six months prior to admission her fingers had become stiff in cold weather with gradual and painless enlargement of the proximal and distal interphalangeal joints. She was the eldest of four children. Her mother, father, and three younger siblings were all well. Rusty brownish pigmented maculae were on the skin of both ankles and lower legs. All the interphalangeal joints were bulbous, and the fingertips were rounded and widened (Fig. 1, A). Her upper extremity motion, pulses, and neurolog-
A case is presented of progressive aero-osteolysis of the hands combined with progressive mandibular ramus osteolysis and multiple cortical defects. The features of aero-osteolysis are reviewed and classified. Bones, idiopathic osteolysis, 4 [8].1862 • Fingers and toes, abnormalities. Jaws
INDEX TERMS:
Radiology 121:63-68, October 1976
• • A CRO-OSTEOlYSIS is a condition in which the shafts of #-\ the distal phalanges are resorbed while the tufts and bases are relatively spared. Other skeletal abnormalities are frequently present (3, 4, 9, 10, 11, 17, 20). Our patient has progressive aero-osteolysis of her hands and progressive mandibular ramus osteolysis combined with rnumple cortical defects. Such a group of findings has not to our knowledge
Fig. 1. A. The finger tips are short and rounded and the interphalangeal joints are bulbous. B. Osteolysis involves the shafts of all the distal phalanges. C. Subperiosteal bone persists in the defect of the middle phalanx, left index finger (arrow).
1 From the Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, Mo. Accepted for publication in December, 1975. 2 Present address: Hendrick Memorial Hospital, Abilene, Texas. 3 Present address: Memorial Hospital Medical Center of Long Beach, Long Beach, Calif. ss
63
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ical examination were normal. She was myopic, had tunnel vision in one eye, and bilateral internal strabismus. The medial canthi were laterally displaced, epicanthal folds were evident, and the palate was high-arched. Radiographic evaluation showed acro-osteolysis involving all the distal phalanges (Fig. 1, B). The soft tissues were telescoped about the distal phalanges, producing a pseudoclubbing deformity. There were concave cortical defects along the radial aspect of all the middle phalanges. A thin layer of subperiosteal bone persisted in the defects of the middle phalanges of the right ring and left index fingers (Fig. 1, C), and along the radial aspect of the proximal phalanges of both index fingers. The transition between the defect and normal bone was sharply defined, with no surrounding sclerosis. The transverse diaphyseal diameter of the fourth and fifth metacarpal bones was decreased. Sharply defined concave cortical defects in the shoulders, arms, forearms, right femur, and knees (Fig. 2, A-D) occurred asymmetrically, usually in or near the diaphysis, and without an appreciable soft tissue mass. In some defects, small areas of subperiosteal bone were present (Figs. 1, C, 2, C and D). The skull, except for the mandible, was normal. There was an open-bite malocclusion (Fig. 3, A). The angles and most of both rami and coronoid processes of the mandible were absent (Fig. 3, B and C). The superior portions of the condylar processes were hypoplastic (Fig. 3, C). The alveolar margins
October 1976
of the maxilla and mandible were normal. Most of her teeth were present and in good condition, but were crowded together. The second and third thoracic vertebral bodies were congenitally fused. The sacrum was horizontal, and unilateral osteitis condensans ilii was present. The rest of the spine was normal. Both acromioclavicular joints were asymptomatically separated, with the right more prominent than the left (Fig. 2, A). The chest was otherwise unremarkable. The feet were unaffected except for short second metatarsal bones. Her forearm skin thickness measurement, according to the method of Bliznak and Staple (2), was greater than normal. The forearm bone densitometry was normal. Other than slightly low blood calcium (8.5 and 8.8 mg/DL), minimally elevated SGOT and total LDH, and a mild normochromic normocytic anemia, the laboratory studies were normal. The concave defect on the anterior aspect of the left tibia was biopsied (Fig. 2, D). Microscopy showed that the bony trabeculae were eroded by a proliferating fibrovascular connective tissue with a conspicuous absence of osteoclasts; chronic inflammatory cells were present. The pathologic diagnosis was nonspecific fibrosis (Fig. 4, A-D). Dr. Raffaele Lattes (from the Pathology Department of Columbia University) reviewed the pathologic material and felt that this specimen had no resemblance to the standard type which arises from cortical fibrous defects. She was readmitted in April 1974 for a facial contusion
Fig. 2. A. Concave cortical defects involve the inferior surface of the clavicle on both sides of the coracoclavicular ligament insertion. Theacromioclavicular joint separates asymptomatically on weight-bearing. The left clavicle andacromioclavicular joint havesimilar findings. A very slight cortical concavity along the infraglenoid border of the neck involved the left scapula more severely thanthe right. B. The deltoid tuberosity of the right humerus is markedly irregular and has a concave cortical defect in its apex. The left humerus has a similarappearance. C. A concave cortical defect containing a linear segment of cortical bone (arrow) affects the lateral aspect of the mid-shaft of the right radius. Similarconcave cortical defects involve the left radius medially just distal to the radial tubercle and laterally in its mid-shaft. D. A 5-cm-long cortical defect containing linear cortical bone (arrow) involves the anterioraspect of the proximal tibia just inferior to the tibial tuberosity. Theopposite knee is similarlyaffected.
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which resulted from a fall. Repeat radiographs showed further resorption of the terminal phalangeal shafts in her hands (Fig. 5) and mandibular rami. No new lesions had appeared. Consultants from the departments of surgery, medicine, dermatology, and medical genetics were unable to establish an etiology for the aero-osteolysis. The family history was negative except for the open-bite malocclusion in her mother and several other family members. According to the mother, no relatives had abnormalities of the hands or any other parts of the skeleton. Radiographs of the mother's mandible showed an irregular left condylar articular surface and slight degenerative narrowing of the left temporomandibular joint. The remainder of her mandible and skeleton were normal.
65
Diagnostic Radiology
DISCUSSION The typical destruction of aero-osteolysis is lysis of the shaft only of the distal phalanges. However, lysis of tufts is often reported. In occupational aero-osteolysis, the earliest radiographic findings may be marginal cortical defects in the tufts (7, 8, 16, 25). Aero-osteolysis may be divided into two general groups: idiopathic nonfamilial and familial, and that secondary to known causes (TABLE I). Both idiopathic forms have many associated findings. The main distinguishing feature of the familial form is its dominant inheritance. Familial osseous atrophy and the neurogenic aero-osteolysis of Giaccai may be considered variants of the familial form (6, 9, 22, 23). Cran-
Fig. 3. A. A gap remains between the incisors with molar apposition. Both mandibular rami are absent, and the condyles are hypoplastic. B. The right mandibular ramus is completely absent. C. A panorex examination of the mandible and maxilla on second admission demonstrates absence of both mandibular rami and both coronoid processes, with extensive resorption of the necks of both condyles (arrows). Two left molars had been removed by a dentist for unclear reasons. Fluid in the maxillary sinuses was from sinusitis.
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TABLE
I:
A.
GILULA AND OTHERS
Aero-osteolysis
1. Idiopathic nonfamilial a. Cranioskeletal dysplasia b. Aero-osteolysis with osteopetrosis (osteopetrosis acro-osteolytica) 2. Idiopathic familial a. Neurogenic b. Familial osseous atrophy 3. Known causes a. Common: polyvinyl chloride b. Rare 1. absorption deficiency 2. hunger osteopathy 3. endocrine deficiency 4. psoriasis 5. pityriasis rubra 6. primary and secondary hyperparathyroidism
ioskeletal dysplasia and acro-osteolysis with osteopetrosis fit into the spectrum of the idiopathic nonfamilial group (1, 3, 11, 19). Certain diseases (3), and one group of workers in the
October 1976
polyvinyl chloride industry, have been associated with aeroosteolysis. No mechanism has been found to definitely explain the development of distal phalangeal osteolysis. Some theorists consider idiopathic acro-osteolysis to be one part of a generalized skeletal 'disorder (3) or dysplasia (4, 10, 20), the result of incomplete formation of bone in preformed cartilage (11), or a functional disturbance of the peripheral sensory fibers (9, 23). idiopathic nonfamilial aero-osteolysis was first mentioned (11) as a part of the syndrome "cranio-skeletal dysplasia." Hajdu and Kauntze reported a patient with a dolicocephalic skull, open sutures, a persistent metopic suture, wormian bones, basilar impression, small maxillae, infantile accessory nasal sinuses, early loss of eeth, atrophy of alveolar margins of the mandible and maxilla, prognathism, generalized bone thinness, biconcave vertebrae, tibial bowing, telescoped and bulbous fingertips (with normal nails and normal sensation), and acro-osteolysis of fingers and toes. Chawla reviewed some of the literature in 1964, presented another patient with this complete syndrome, and indicated that one other similarly affected patient had been reported (20). Other patients de-
Fig. 4. A. A section of the lesion in the anterior proximal tibia shows erosion of bony trabeculae (t) by fibrous connective tissue (H & EX 40). Periosteum (p) is on the right. B. Bone trabeculae (t) have a woven appearance (H & E X 90). Osteoclasts are conspicuously absent. (This indicates that the radiographic radiolucency is not due to osteoclastic resorption). Periosteum (p) is at the bottom. C. This includes a segment of periosteum (p) and proliferating fibrovascular connective tissue (H & E X 40). D. A higher power of the proliferating fibrovascular connective tissue demonstrates a loose stellate cellular configuration with a mixture of capillaries (H & E X 90). Chronic inflammatory cells surround the vessels.
scribed in the literature with idiopathic acro-osteolysis had only some of these findings (10, 13, 18,21). In the American literature, Greenberg and Street (10) first reported and coined the term "idiopathic nonfamilial aeroosteolysis." Their patient had chronic foot pain from a nonunited fracture of the fifth metatarsal base which subsequently healed after operative intervention. Bony defects and cystic changes in some metatarsal heads and in the distal articular ends of some middle phalanges were present in the feet. Aero-osteolysis involved most of the distal phalanges of the hands. There was irregular rarefaction of the right mandibular ramus and many teeth were absent. Biopsy of the fracture site as well as a lytic lesion in the first metatarsai showed nonspecific fibrosis. Follow-up examination over a five year period revealed a minimal progression of the changes in the feet and no appreciable alteration in the aero-osteolysis of the hands. Other changes in the nonfamilial form may be failure of normal long bone tubulation, leg length discrepancy, protrusio acetabuli, hypermobile joints, subluxations of metacarpophalangeal joints and distal ulna, anterior fontanelle depression, and malocclusion (10, 13, 20, 21). Some patient's bones may fracture more easily than is normal (21). Meyerson and Meier documented the only case of cutaneous lesions in nonfamilial aero-osteolysis (18). They described a patient with yellowish papular 2-4 mm lesions, similar to those seen in the polyvinyl chloride workers with aero-osteolysis, which involved the flexor surfaces of the wrist and forearm and the periaxillary region, but spared the axillary vault. Patches extended along the back of the neck and trunk, and around the waist and upper thighs. Another small group of patients without familial involvement have osteopetrosis, aero-osteolysis affecting primarily the hands but also the feet, open sutures of the skull, and many of the previously mentioned findings of nonfamilial aero-osteolysis (1, 19). Andren et al. (1) found 13 patients in the literature up to 1962 with this syndrome, added two more to this number, and suggested the name osteopetrosis acro-osteolytica. Patients with familial aero-osteolysis have similar findings. Generalized osteopenia and short stature may also be features of the disease. The patients were 152 em (60 in.) or
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IDIOPATHIC NONFAMILIAL ACRO-OSTEOLYSIS
less in height in one series (4). Some had biconcave vertebral deformities and progressive diminution in height over a six-year period. Other findings include a transverse or obliquely oriented radiolucent line within the phalanges, metatarsals, and metacarpals which resembles that of nonunited fractures. One large family has been reported with more destructive changes in the feet than in the hands (9). Ulcerations on the plantar aspect of the toes were accompanied by painful swelling and radiographically demonstrable aeroosteolysis. The patients had soft tissue thickening and shortening of the fingers and toes. In some of these patients, osteomyelitic changes occurred in the feet along with patchy radiolucency, destruction, sclerosis, sequestrum formation and extensive bone loss without reactive bone formation. Aero-osteolysis of the hands was frequently present, but less severe than in the feet. Sensory deficits of the toes and fingers were often prominent. Giaccai (9) also found that some patients have this condition, and he labeled it "familial and sporadic neurogenic aero-osteolysis." Another group of patients (6, 22, 23) had similar but more marked findings in the feet with normal hands. This condition was called "familial osseous atrophy." Plantar superficial blister formation was followed by ulceration. Chronic osseous destruction progressing from the distal phalanges to the tarsal bones at times left only a portion of the hindfoot remaining and the patient severely crippled. These patients usually had no pain, temperature or touch sensation. The pattern of destruction of the distal phalanges was more like that of leprosy or syringomyelia and did not typically involve the shafts before the tufts. A third type of aero-osteolysis results from known etiology.
67
Diagnostic Radiology
The most common of these is occupational exposure to polyvinyl chloride. Some workers who cleaned the vats and came into physical contact with the products of polyvinyl chloride polymerization acquired the disease in their hands (5, 7, 8, 16, 25). Dinman et al. consider that an idiosyncratic sensitization or susceptibility must be present, as these changes (7) do not develop in all the workers with equivalent exposure. Affected workers usually had Raynaud's syndrome, and several reported skin lesions over the dorsal surface of the hands and forearms. Some were found to have sclerotic sacroiliac joints with marginal erosions (8); no other bones were involved. The lytic lesions often healed with fibrous or bony ankylosis after removal from exposure. Other less common causes of acro-osteolysis reported in older German literature include absorption deficiency, hunger osteopathy, endocrine deficiency, psoriasis, pityriasis rubra, and both primary and secondary hyperparathyroidism (3, 10, 14, 15, 24, 25). Patients with familial acro-osteolysis usually have the clinical evidence of it by the late teens, while those with the idiopathic variety do not usually manifest findings until their early twenties or older. In both familial and nonfamilial forms, sensory changes of the upper and lower extremities are usually absent; however, sensory loss may be quite prominent in the familial osseous atrophy form of familial acro-osteolysis. Raynaud's syndrome may occur in either the familial or nonfamilial types, but there are usually no ulcerations in the hands. In nonfamilial aero-osteolysis the feet are not as commonly involved (10, 13, 18,21). Our patient has no skull changes (aside from the mandible), short stature (or osteoporosis), and has a negative history for the disease. Pedal acro-osteolysis and resorptive
Fig. 5. Six months after the examination in Figure 1, distal phalangeal shafts have been further resorbed. This is most prominent in both ring fingers.
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changes of the alveolar margins of the maxilla and mandible are absent. Mandibular rami osteolysis as well as multiple unusual cortical defects of the appendicular skeleton appear to be unique accompanying findings. In some of the phalangeal, radial and tibial defects a thin shell of bone was found radiographically. These cortical fragments may represent incomplete erosion of the cortex by the histologically described fibrovascular connective tissue. Nonspecific fibrosis was reported by Greenberg and Street (10) in their patient's biopsy. We feel that this patient lies within the spectrum of idiopathic nonfamilial aero-osteolysis. She possesses typical aero-osteolysis of her hands with the infrequent feature of progression of these changes. Mallinckrodt Institute of Radiology 510 South Kingshighway Blvd. St. Louis, Missouri 63110
REFERENCES 1. Andren L, Dymling JF, Hogeman KE, et al: Osteopetrosis acro-osteolytica. A syndrome of osteoporosis, aero-osteolysis and open sutures of the skull. Acta Chir Scand 124:496-507, Dec 1962 2. Bliznak J, Staple TW: Roentgenographic measurement of skin thickness in normal individuals. Radiology 116:55-60, Jul1975 3. Chawla S: Cranio-skeletal dysplasia with acro-osteolysis. Br J Radiol 37:702-705, Sep 1964 4. Cheney WD: Acro-osteolysis. Am J Roentgenol 94:595607,Ju11965 5. Cook WA, Giever PM, Dinman BD, et al: Occupational acro-osteolysis. Ir. An industrial hygiene study. Arch Environ Health 22:74-82, Jan 1971 6. Cooper G Jr, Adair N, Patterson WM: Familial osseous atrophy. Radiology 48:509"':513, May 1947 7. Dinman BD, Cook WA, Whitehouse WM, et al: Occupational aero-osteolysis. I. An epidemiological study. Arch Environ Health 22:61-73, Jan 1971 8. Dodson VN, Dinman BD, Whitehouse WM, et al: Occupa-
October 1976
tional acro-osteolysis. III. A clinical study. Arch Environ Health 22: 83-91, Jan 1971 9. Giaccai, L: Familial and sporadic neurogenic acro-osteolysis. Acta Radiol 38:17-29, Jul 1952 10. Greenberg BE, Street DM: Idiopathic non-familial acro-osteolysis. Radiology 69:259-262, Aug 1957 11. Hajdu N, Kauntze R: Cranio-skeletal dysplaia. Br J Radiol 21:42-48, Jan 1948 12. Harms I: Uber die farnillare Akroosteolyse. Fortschr Geb Rbntgenstrahlen 80:727-732, Jun 1954 13. Harnasch H: Die Akroosteolysis, ein neues Krankheitsbild. Fortschr Geb Rbntgenstrahlen 72:352-359, Jan 1950 14. Jesserer H: Zum Erscheinungsbild der Akroosteolyse. Fortschr Geb Rbntgenstrahlen 77:545-552, Nov 1952 15. Kleinsorge H: Akroosteolytische Erscheinungen der Osteomalacie. Fortschr Geb Rontgenstrahalen 73:471-475, Aug 1950 16. Markowitz SS, McDonald CJ, Fethiere W, et al: Occupational acro-osteolysis. Arch DermatoI106:219-223, Aug 1972 17. Matisonn A, Ziady F: Familial acro-osteolysis. S Afr Med J 47:2060-2063,3 Nov 1973 18. Meyerson LB, Meier GC: Cutaneous lesions in acro-osteolysls. Arch DermatoI106:224-227, Aug 1972 19. Palmer PES, Thomas JEP: Osteopetrosis with unusual changes in the skull and digits. Br J Radiol 31:705-708, Dec 1958 20. Papavasilou CG, Gargano FP, Walls WL: Idiopathic nonfamilial aero-osteolysis associated with other bone abnormalities. Am J Roentgenol 83:687-691, Apr 1960 21. Shaw DG: Acro-osteolysis and bone fragility. Br J Radiol 42:934-936, Dec 1969 22. Smith EM: Familial neurotrophic osseous atrophy; familial neutrophic condition of feet with anesthesia and loss of bone. JAMA 102:593-595,24 Feb 1934 23. Tocantins LM, Reimann HA: Perforating ulcers of feet, with osseous atrophy in family with other evidences of dysgenesis (harelip, cleft palate): instance of probable myelodysplasia. JAMA 112: 2251-2255,3 Jun 1939 24. Wassner UJ: Ein weiterer Fall einer Akro-Osteolyse-zugleich ein Beitrag zu ihrer Differentialdiagnose. Fortschr Geb Rontgenstrahlen 80:186-191, Feb 1954 25. Wieland H: Ein Beitrag zur kenntnis der Acroosteolyse. Fortschr Geb Rontgenstrahlen 77: 193-198, Aug 1952 26. Wilson RH, McCormick WE, Tatum CF, et al: Occupational aero-osteolysis. Report of 31 cases. JAMA 201:577-581, 21 Aug 1967
Idiopathic Nonfamilial Aero-osteolysis with Cortical Defects and Mandibular Ramus Osteolysis 1
•
been previously reported. A review and classification of aero-osteolysis will be presented.
Louis A. Gilula, M.D., Johnny Bliznak, M.D.,2 and Tom W. Staple, M.D.3
CASE REPORT
A 20-year-old white woman of average intelligence complained of weakness in her left knee in October of 1973. She had injured it several times in the prior four years, most recently three weeks prior to admission. Her developmental history was unremarkable except for an open bite malocclusion which made mastication difficult. For six months prior to admission her fingers had become stiff in cold weather with gradual and painless enlargement of the proximal and distal interphalangeal joints. She was the eldest of four children. Her mother, father, and three younger siblings were all well. Rusty brownish pigmented maculae were on the skin of both ankles and lower legs. All the interphalangeal joints were bulbous, and the fingertips were rounded and widened (Fig. 1, A). Her upper extremity motion, pulses, and neurolog-
A case is presented of progressive aero-osteolysis of the hands combined with progressive mandibular ramus osteolysis and multiple cortical defects. The features of aero-osteolysis are reviewed and classified. Bones, idiopathic osteolysis, 4 [8].1862 • Fingers and toes, abnormalities. Jaws
INDEX TERMS:
Radiology 121:63-68, October 1976
• • A CRO-OSTEOlYSIS is a condition in which the shafts of #-\ the distal phalanges are resorbed while the tufts and bases are relatively spared. Other skeletal abnormalities are frequently present (3, 4, 9, 10, 11, 17, 20). Our patient has progressive aero-osteolysis of her hands and progressive mandibular ramus osteolysis combined with rnumple cortical defects. Such a group of findings has not to our knowledge
Fig. 1. A. The finger tips are short and rounded and the interphalangeal joints are bulbous. B. Osteolysis involves the shafts of all the distal phalanges. C. Subperiosteal bone persists in the defect of the middle phalanx, left index finger (arrow).
1 From the Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, Mo. Accepted for publication in December, 1975. 2 Present address: Hendrick Memorial Hospital, Abilene, Texas. 3 Present address: Memorial Hospital Medical Center of Long Beach, Long Beach, Calif. ss
63
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ical examination were normal. She was myopic, had tunnel vision in one eye, and bilateral internal strabismus. The medial canthi were laterally displaced, epicanthal folds were evident, and the palate was high-arched. Radiographic evaluation showed acro-osteolysis involving all the distal phalanges (Fig. 1, B). The soft tissues were telescoped about the distal phalanges, producing a pseudoclubbing deformity. There were concave cortical defects along the radial aspect of all the middle phalanges. A thin layer of subperiosteal bone persisted in the defects of the middle phalanges of the right ring and left index fingers (Fig. 1, C), and along the radial aspect of the proximal phalanges of both index fingers. The transition between the defect and normal bone was sharply defined, with no surrounding sclerosis. The transverse diaphyseal diameter of the fourth and fifth metacarpal bones was decreased. Sharply defined concave cortical defects in the shoulders, arms, forearms, right femur, and knees (Fig. 2, A-D) occurred asymmetrically, usually in or near the diaphysis, and without an appreciable soft tissue mass. In some defects, small areas of subperiosteal bone were present (Figs. 1, C, 2, C and D). The skull, except for the mandible, was normal. There was an open-bite malocclusion (Fig. 3, A). The angles and most of both rami and coronoid processes of the mandible were absent (Fig. 3, B and C). The superior portions of the condylar processes were hypoplastic (Fig. 3, C). The alveolar margins
October 1976
of the maxilla and mandible were normal. Most of her teeth were present and in good condition, but were crowded together. The second and third thoracic vertebral bodies were congenitally fused. The sacrum was horizontal, and unilateral osteitis condensans ilii was present. The rest of the spine was normal. Both acromioclavicular joints were asymptomatically separated, with the right more prominent than the left (Fig. 2, A). The chest was otherwise unremarkable. The feet were unaffected except for short second metatarsal bones. Her forearm skin thickness measurement, according to the method of Bliznak and Staple (2), was greater than normal. The forearm bone densitometry was normal. Other than slightly low blood calcium (8.5 and 8.8 mg/DL), minimally elevated SGOT and total LDH, and a mild normochromic normocytic anemia, the laboratory studies were normal. The concave defect on the anterior aspect of the left tibia was biopsied (Fig. 2, D). Microscopy showed that the bony trabeculae were eroded by a proliferating fibrovascular connective tissue with a conspicuous absence of osteoclasts; chronic inflammatory cells were present. The pathologic diagnosis was nonspecific fibrosis (Fig. 4, A-D). Dr. Raffaele Lattes (from the Pathology Department of Columbia University) reviewed the pathologic material and felt that this specimen had no resemblance to the standard type which arises from cortical fibrous defects. She was readmitted in April 1974 for a facial contusion
Fig. 2. A. Concave cortical defects involve the inferior surface of the clavicle on both sides of the coracoclavicular ligament insertion. Theacromioclavicular joint separates asymptomatically on weight-bearing. The left clavicle andacromioclavicular joint havesimilar findings. A very slight cortical concavity along the infraglenoid border of the neck involved the left scapula more severely thanthe right. B. The deltoid tuberosity of the right humerus is markedly irregular and has a concave cortical defect in its apex. The left humerus has a similarappearance. C. A concave cortical defect containing a linear segment of cortical bone (arrow) affects the lateral aspect of the mid-shaft of the right radius. Similarconcave cortical defects involve the left radius medially just distal to the radial tubercle and laterally in its mid-shaft. D. A 5-cm-long cortical defect containing linear cortical bone (arrow) involves the anterioraspect of the proximal tibia just inferior to the tibial tuberosity. Theopposite knee is similarlyaffected.
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IDIOPATHIC NONFAMILIAL ACRO-OSTEOLYSIS
which resulted from a fall. Repeat radiographs showed further resorption of the terminal phalangeal shafts in her hands (Fig. 5) and mandibular rami. No new lesions had appeared. Consultants from the departments of surgery, medicine, dermatology, and medical genetics were unable to establish an etiology for the aero-osteolysis. The family history was negative except for the open-bite malocclusion in her mother and several other family members. According to the mother, no relatives had abnormalities of the hands or any other parts of the skeleton. Radiographs of the mother's mandible showed an irregular left condylar articular surface and slight degenerative narrowing of the left temporomandibular joint. The remainder of her mandible and skeleton were normal.
65
Diagnostic Radiology
DISCUSSION The typical destruction of aero-osteolysis is lysis of the shaft only of the distal phalanges. However, lysis of tufts is often reported. In occupational aero-osteolysis, the earliest radiographic findings may be marginal cortical defects in the tufts (7, 8, 16, 25). Aero-osteolysis may be divided into two general groups: idiopathic nonfamilial and familial, and that secondary to known causes (TABLE I). Both idiopathic forms have many associated findings. The main distinguishing feature of the familial form is its dominant inheritance. Familial osseous atrophy and the neurogenic aero-osteolysis of Giaccai may be considered variants of the familial form (6, 9, 22, 23). Cran-
Fig. 3. A. A gap remains between the incisors with molar apposition. Both mandibular rami are absent, and the condyles are hypoplastic. B. The right mandibular ramus is completely absent. C. A panorex examination of the mandible and maxilla on second admission demonstrates absence of both mandibular rami and both coronoid processes, with extensive resorption of the necks of both condyles (arrows). Two left molars had been removed by a dentist for unclear reasons. Fluid in the maxillary sinuses was from sinusitis.
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LOUIS
TABLE
I:
A.
GILULA AND OTHERS
Aero-osteolysis
1. Idiopathic nonfamilial a. Cranioskeletal dysplasia b. Aero-osteolysis with osteopetrosis (osteopetrosis acro-osteolytica) 2. Idiopathic familial a. Neurogenic b. Familial osseous atrophy 3. Known causes a. Common: polyvinyl chloride b. Rare 1. absorption deficiency 2. hunger osteopathy 3. endocrine deficiency 4. psoriasis 5. pityriasis rubra 6. primary and secondary hyperparathyroidism
ioskeletal dysplasia and acro-osteolysis with osteopetrosis fit into the spectrum of the idiopathic nonfamilial group (1, 3, 11, 19). Certain diseases (3), and one group of workers in the
October 1976
polyvinyl chloride industry, have been associated with aeroosteolysis. No mechanism has been found to definitely explain the development of distal phalangeal osteolysis. Some theorists consider idiopathic acro-osteolysis to be one part of a generalized skeletal 'disorder (3) or dysplasia (4, 10, 20), the result of incomplete formation of bone in preformed cartilage (11), or a functional disturbance of the peripheral sensory fibers (9, 23). idiopathic nonfamilial aero-osteolysis was first mentioned (11) as a part of the syndrome "cranio-skeletal dysplasia." Hajdu and Kauntze reported a patient with a dolicocephalic skull, open sutures, a persistent metopic suture, wormian bones, basilar impression, small maxillae, infantile accessory nasal sinuses, early loss of eeth, atrophy of alveolar margins of the mandible and maxilla, prognathism, generalized bone thinness, biconcave vertebrae, tibial bowing, telescoped and bulbous fingertips (with normal nails and normal sensation), and acro-osteolysis of fingers and toes. Chawla reviewed some of the literature in 1964, presented another patient with this complete syndrome, and indicated that one other similarly affected patient had been reported (20). Other patients de-
Fig. 4. A. A section of the lesion in the anterior proximal tibia shows erosion of bony trabeculae (t) by fibrous connective tissue (H & EX 40). Periosteum (p) is on the right. B. Bone trabeculae (t) have a woven appearance (H & E X 90). Osteoclasts are conspicuously absent. (This indicates that the radiographic radiolucency is not due to osteoclastic resorption). Periosteum (p) is at the bottom. C. This includes a segment of periosteum (p) and proliferating fibrovascular connective tissue (H & E X 40). D. A higher power of the proliferating fibrovascular connective tissue demonstrates a loose stellate cellular configuration with a mixture of capillaries (H & E X 90). Chronic inflammatory cells surround the vessels.
scribed in the literature with idiopathic acro-osteolysis had only some of these findings (10, 13, 18,21). In the American literature, Greenberg and Street (10) first reported and coined the term "idiopathic nonfamilial aeroosteolysis." Their patient had chronic foot pain from a nonunited fracture of the fifth metatarsal base which subsequently healed after operative intervention. Bony defects and cystic changes in some metatarsal heads and in the distal articular ends of some middle phalanges were present in the feet. Aero-osteolysis involved most of the distal phalanges of the hands. There was irregular rarefaction of the right mandibular ramus and many teeth were absent. Biopsy of the fracture site as well as a lytic lesion in the first metatarsai showed nonspecific fibrosis. Follow-up examination over a five year period revealed a minimal progression of the changes in the feet and no appreciable alteration in the aero-osteolysis of the hands. Other changes in the nonfamilial form may be failure of normal long bone tubulation, leg length discrepancy, protrusio acetabuli, hypermobile joints, subluxations of metacarpophalangeal joints and distal ulna, anterior fontanelle depression, and malocclusion (10, 13, 20, 21). Some patient's bones may fracture more easily than is normal (21). Meyerson and Meier documented the only case of cutaneous lesions in nonfamilial aero-osteolysis (18). They described a patient with yellowish papular 2-4 mm lesions, similar to those seen in the polyvinyl chloride workers with aero-osteolysis, which involved the flexor surfaces of the wrist and forearm and the periaxillary region, but spared the axillary vault. Patches extended along the back of the neck and trunk, and around the waist and upper thighs. Another small group of patients without familial involvement have osteopetrosis, aero-osteolysis affecting primarily the hands but also the feet, open sutures of the skull, and many of the previously mentioned findings of nonfamilial aero-osteolysis (1, 19). Andren et al. (1) found 13 patients in the literature up to 1962 with this syndrome, added two more to this number, and suggested the name osteopetrosis acro-osteolytica. Patients with familial aero-osteolysis have similar findings. Generalized osteopenia and short stature may also be features of the disease. The patients were 152 em (60 in.) or
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IDIOPATHIC NONFAMILIAL ACRO-OSTEOLYSIS
less in height in one series (4). Some had biconcave vertebral deformities and progressive diminution in height over a six-year period. Other findings include a transverse or obliquely oriented radiolucent line within the phalanges, metatarsals, and metacarpals which resembles that of nonunited fractures. One large family has been reported with more destructive changes in the feet than in the hands (9). Ulcerations on the plantar aspect of the toes were accompanied by painful swelling and radiographically demonstrable aeroosteolysis. The patients had soft tissue thickening and shortening of the fingers and toes. In some of these patients, osteomyelitic changes occurred in the feet along with patchy radiolucency, destruction, sclerosis, sequestrum formation and extensive bone loss without reactive bone formation. Aero-osteolysis of the hands was frequently present, but less severe than in the feet. Sensory deficits of the toes and fingers were often prominent. Giaccai (9) also found that some patients have this condition, and he labeled it "familial and sporadic neurogenic aero-osteolysis." Another group of patients (6, 22, 23) had similar but more marked findings in the feet with normal hands. This condition was called "familial osseous atrophy." Plantar superficial blister formation was followed by ulceration. Chronic osseous destruction progressing from the distal phalanges to the tarsal bones at times left only a portion of the hindfoot remaining and the patient severely crippled. These patients usually had no pain, temperature or touch sensation. The pattern of destruction of the distal phalanges was more like that of leprosy or syringomyelia and did not typically involve the shafts before the tufts. A third type of aero-osteolysis results from known etiology.
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Diagnostic Radiology
The most common of these is occupational exposure to polyvinyl chloride. Some workers who cleaned the vats and came into physical contact with the products of polyvinyl chloride polymerization acquired the disease in their hands (5, 7, 8, 16, 25). Dinman et al. consider that an idiosyncratic sensitization or susceptibility must be present, as these changes (7) do not develop in all the workers with equivalent exposure. Affected workers usually had Raynaud's syndrome, and several reported skin lesions over the dorsal surface of the hands and forearms. Some were found to have sclerotic sacroiliac joints with marginal erosions (8); no other bones were involved. The lytic lesions often healed with fibrous or bony ankylosis after removal from exposure. Other less common causes of acro-osteolysis reported in older German literature include absorption deficiency, hunger osteopathy, endocrine deficiency, psoriasis, pityriasis rubra, and both primary and secondary hyperparathyroidism (3, 10, 14, 15, 24, 25). Patients with familial acro-osteolysis usually have the clinical evidence of it by the late teens, while those with the idiopathic variety do not usually manifest findings until their early twenties or older. In both familial and nonfamilial forms, sensory changes of the upper and lower extremities are usually absent; however, sensory loss may be quite prominent in the familial osseous atrophy form of familial acro-osteolysis. Raynaud's syndrome may occur in either the familial or nonfamilial types, but there are usually no ulcerations in the hands. In nonfamilial aero-osteolysis the feet are not as commonly involved (10, 13, 18,21). Our patient has no skull changes (aside from the mandible), short stature (or osteoporosis), and has a negative history for the disease. Pedal acro-osteolysis and resorptive
Fig. 5. Six months after the examination in Figure 1, distal phalangeal shafts have been further resorbed. This is most prominent in both ring fingers.
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A.
GILULA AND OTHERS
changes of the alveolar margins of the maxilla and mandible are absent. Mandibular rami osteolysis as well as multiple unusual cortical defects of the appendicular skeleton appear to be unique accompanying findings. In some of the phalangeal, radial and tibial defects a thin shell of bone was found radiographically. These cortical fragments may represent incomplete erosion of the cortex by the histologically described fibrovascular connective tissue. Nonspecific fibrosis was reported by Greenberg and Street (10) in their patient's biopsy. We feel that this patient lies within the spectrum of idiopathic nonfamilial aero-osteolysis. She possesses typical aero-osteolysis of her hands with the infrequent feature of progression of these changes. Mallinckrodt Institute of Radiology 510 South Kingshighway Blvd. St. Louis, Missouri 63110
REFERENCES 1. Andren L, Dymling JF, Hogeman KE, et al: Osteopetrosis acro-osteolytica. A syndrome of osteoporosis, aero-osteolysis and open sutures of the skull. Acta Chir Scand 124:496-507, Dec 1962 2. Bliznak J, Staple TW: Roentgenographic measurement of skin thickness in normal individuals. Radiology 116:55-60, Jul1975 3. Chawla S: Cranio-skeletal dysplasia with acro-osteolysis. Br J Radiol 37:702-705, Sep 1964 4. Cheney WD: Acro-osteolysis. Am J Roentgenol 94:595607,Ju11965 5. Cook WA, Giever PM, Dinman BD, et al: Occupational acro-osteolysis. Ir. An industrial hygiene study. Arch Environ Health 22:74-82, Jan 1971 6. Cooper G Jr, Adair N, Patterson WM: Familial osseous atrophy. Radiology 48:509"':513, May 1947 7. Dinman BD, Cook WA, Whitehouse WM, et al: Occupational aero-osteolysis. I. An epidemiological study. Arch Environ Health 22:61-73, Jan 1971 8. Dodson VN, Dinman BD, Whitehouse WM, et al: Occupa-
October 1976
tional acro-osteolysis. III. A clinical study. Arch Environ Health 22: 83-91, Jan 1971 9. Giaccai, L: Familial and sporadic neurogenic acro-osteolysis. Acta Radiol 38:17-29, Jul 1952 10. Greenberg BE, Street DM: Idiopathic non-familial acro-osteolysis. Radiology 69:259-262, Aug 1957 11. Hajdu N, Kauntze R: Cranio-skeletal dysplaia. Br J Radiol 21:42-48, Jan 1948 12. Harms I: Uber die farnillare Akroosteolyse. Fortschr Geb Rbntgenstrahlen 80:727-732, Jun 1954 13. Harnasch H: Die Akroosteolysis, ein neues Krankheitsbild. Fortschr Geb Rbntgenstrahlen 72:352-359, Jan 1950 14. Jesserer H: Zum Erscheinungsbild der Akroosteolyse. Fortschr Geb Rbntgenstrahlen 77:545-552, Nov 1952 15. Kleinsorge H: Akroosteolytische Erscheinungen der Osteomalacie. Fortschr Geb Rontgenstrahalen 73:471-475, Aug 1950 16. Markowitz SS, McDonald CJ, Fethiere W, et al: Occupational acro-osteolysis. Arch DermatoI106:219-223, Aug 1972 17. Matisonn A, Ziady F: Familial acro-osteolysis. S Afr Med J 47:2060-2063,3 Nov 1973 18. Meyerson LB, Meier GC: Cutaneous lesions in acro-osteolysls. Arch DermatoI106:224-227, Aug 1972 19. Palmer PES, Thomas JEP: Osteopetrosis with unusual changes in the skull and digits. Br J Radiol 31:705-708, Dec 1958 20. Papavasilou CG, Gargano FP, Walls WL: Idiopathic nonfamilial aero-osteolysis associated with other bone abnormalities. Am J Roentgenol 83:687-691, Apr 1960 21. Shaw DG: Acro-osteolysis and bone fragility. Br J Radiol 42:934-936, Dec 1969 22. Smith EM: Familial neurotrophic osseous atrophy; familial neutrophic condition of feet with anesthesia and loss of bone. JAMA 102:593-595,24 Feb 1934 23. Tocantins LM, Reimann HA: Perforating ulcers of feet, with osseous atrophy in family with other evidences of dysgenesis (harelip, cleft palate): instance of probable myelodysplasia. JAMA 112: 2251-2255,3 Jun 1939 24. Wassner UJ: Ein weiterer Fall einer Akro-Osteolyse-zugleich ein Beitrag zu ihrer Differentialdiagnose. Fortschr Geb Rontgenstrahlen 80:186-191, Feb 1954 25. Wieland H: Ein Beitrag zur kenntnis der Acroosteolyse. Fortschr Geb Rontgenstrahlen 77: 193-198, Aug 1952 26. Wilson RH, McCormick WE, Tatum CF, et al: Occupational aero-osteolysis. Report of 31 cases. JAMA 201:577-581, 21 Aug 1967
