Pediatric Radiology
Pediatr. Radiol. 8, 79-86 (1979)
9 by Springer-Verlag 1979
Acroosteolysis Problems of Diagnosis - Report of Four Cases K. Kozlowski, A. Barylak, F. Eftekhari, K. Pasyk, and E. Wislocka Department of Radiology, Royal Alexandra Hospital for Children, Sydney, Australia, Paediatric Institute of the Medical Academy, Krakow, Poland, and Children's Hospital, Teheran, Iran
Abstract. Four cases of idiopathic acroosteolysis are reported. The first is a common phalangeal type, the second, the Hozay variety. The third case was diagnosed after a mumps infection, and marked regress of the changes was noted in the following years. The fourth case shows skin changes, periostitis, mild osteosclerosis, and skullchanges as well as acroosteolysis. Key words: Idiopathic acroosteolysis - Bone dysplasia - Periostitis - Wormian bones - Immunologic disorders
Idiopathic acroosteolysis (IA) is a group of diseases of unknown etiology, characterized by progressive acroosteolysis of the hands and feet. Proximal parts of the extremities and the axial skeleton may also be affected. The disease is often accompanied by recurrent ulcers of the fingers, toes, palms, and soles, elimination of the sequestrae, and healing with subsequent loss of toes and fingers. Distal neurologic sensitivity defects are sometimes present. The prognosis in early stages of the disease is unpredictable. The variability of the radiographic and clinical appearances of IA is surprising, and there is no doubt that they constitute a group of different, but probably related, diseases. Numerous reports of single and familial cases helped in tabulation of various forms of IA bearing similar radiographic, clinical, and genetic features, but many cases are unclassifiable. There are several difficulties in classification of IA. The relative rarity of the disease, the nonconclusive or normal clinical, biochemical, and histologic findings, and finally the paucity of information about the early and late stages of the disease result in the
descriptive radiographic findings being the major criteria for classification. The radiologist therefore should be familiar with the radiographic approach to the problem. Radiologically, two major groups of IA can be differentiated: one with diagnostic or characteristic radiographic features, which comprises the Franqois [3], Hajdu [5], and Torg [9] varieties, and one with less characteristic radiographic features, which comprises the phalangeal, phalangocarpotarsal, carpotarsal, and multicentric groups. Associated clinical features, such as skin ulcerations, sensory deficits, skin changes, mental retardation, facial dysmorphism, and nephropathies, together with the type of inheritance allow a more specific classification. The reader is referred for further information to individual papers [6] and specifically to the textbooks of Maroteaux [7] and Spranger et al. [8]. Acroosteolysis is often part of well-recognized syndromes (e. g., pyknodysostosis, progeria) or diseases (e. g., hyperparathyroidism, rheumatoid arthritis), most of which are easily recognized when history, clinical and biochemical data, and diagnostic findings are properly considered. Gorham disease [4], which can affect every single bone, often with complete dissolution, is often preceded by trauma and may be a manifestation of aggressive hemangiomatosis.
Case Reports Case 1. This 7-year-old boy was admitted to the Children's Hospital, Teheran, Iran, with a 4-year history of ulcerations of the distal phalanges and recurrent blistering and subsequent crust formation and scarring associated with an itching sensation. The pregnancy and delivery were normal. Normal growth and development occurred during the first 3 years of life. The family history was noncontributory.
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Fig. 1 A and B. Case I. Seven-yearold boy. Idiopathic acroosteolysis (phalangeal type). Left hand and right foot. Osteolytic changes at the distal phalanges of fingers II-IV and distal phalanx of the toe. Similar changes were present in the right hand and left foot On physical examination, resorption of soft tissue at the distal phalanges with partial amputation was present, but there was no remarkable loss of sensation. There was 1.5 cm hepatomegaly. Skin biopsy revealed foci of collagen, degeneration, and chronic inflammatory infiltration. The routine blood and urine tests including blood electrolytes were normal. Cultures from the ulcers of the skin were negative for tuberculosis and leprosy. The bone marrow was normal. Tests for antinuclear factor. LE cells, and porphyrin studies were normal. The x-ray examination showed changes characteristic for acroosteolysis (Fig. 1 A and B).
Case IL This Australian girl is the offspring of a brother-sister mating. She was born in 1965 and was said to be normal at birth, but was investigated for failing to thrive at 4 months when a corneal ulcer was noted. At 3 years she developed peripheral gangrene of some fingers and toes during the harsh winter experienced in the country town where she lives. The skin lesions were initially blisters which became ulcers; some became gangrenous and amputation of the tips of one finger and one toe was necessary. Symptoms became worse on exposure to cold and trauma. In 1969 she was admitted to the Royal Alexandra Hospital for Children, Sydney, and was subsequently investigated at this and several other hospitals for the same condition. In 1974 she was again admitted to hospital because of peripheral ischemic changes in her fingers and toes and ulceration over the nasal bridge. She was noted to have scleroderma-like changes of the skin of both hands, but no rashes, gingivitis, or angular stomatitis. There was no dental decay, but chronic otitis media was present. When reviewed in 1977, she presented as a dull 12-year-old girl whose height and weight were progressing along the tenth percentiles. The tips of the third digit of the right hand and the fourth toe of the left foot were missing. The skin of her face and dorsum of both hands and feet showed atrophy and telangiectasia and there was slight sclerosis of the
terminal phalanges of her feet and hands, but no sclerodactyty present (Fig. 2A-C). No specific therapy has been offered except protection from cold and trauma and treatment of skin and ear infections with appropriate antibiotics. Investigations have been extensive. Blood counts; blood urea; and serum creatinine phosphorus, calcium, and magnesium have always been normal. LE phenomenon, R A latex cells, ANF, antibodies to smooth muscle, and VDRL were negative. Porphyrin studies of urine and blood were normal. Urinary amino acids and urinary indoles showed a normal pattern. Immunologic investigation was noncontributory except that IgA was noted to be low. Serum complement, cryoglobulins, cryofibrinogen, and Coomb's test were normal. Nerve conduction studies were normal. Her karyotype was a normal female, 46XX. Skin and muscle biopsies were taken from three separate areas. The one taken from the hand was not diagnostic, but compatible with the diagnosis of an acrosclerotic variety of scleroderma or familial or idiopathic nonfamilial acroosteolysis. X-ray examination on 29 June 1973 showed changes characteristic for acroosteolysis. Repeat x-ray examination on 9 August 1977 showed progress of the acroosteolytic changes (Fig. 2D and E).
Case II1. This 8-year-old Yugoslav-Australian girl was admitted to the Royal Alexandra Hospital for Children, Sydney, on 29 December 1972 with a 6-month history of intermittent pain in the neck, interphalangeal joints, and ankles. The interphalangeal and ankle joints were intermittently swollen. Symptoms had appeared after clinically uncomplicated mumps. Physical examination at admission revealed that the interphalangeal joints were swollen and painful with limitation of movement. The remaining joints were normal. Her lower jaw was recorded as small. The lymph nodes in the neck and axillae were enlarged. No other abnormalities were noted (Fig. 3 A and B). Extensive laboratory tests were performed. Routine blood and
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Fig. 2 A - E . Case II. Twelve-year-old girl. Idiopathic acroosteolysis (Hozay type). A Facial dysmorphism. Hypertelorism. B and C Note skin and nail changes. Amputation of the distal phalanx of the right middle finger. D Acroosteolytic changes of the distal phalanges of fingers U-IV of the left hand and at the distal phalanges of fingers I, II and IV of the right hand. The distal phalanx of the right middle finger is missing. E Acroosteolytic changes of the medial aspect of the distal phalanx of the right toe
82 urine tests and serum electrolytes were normal. The ASO titer and ESR were normal. The R A test was positive. LE cells were not detected. Estimation of serum proteins and electrophoretic pattern showed a low value for alpha globulin and a raised gamma globulin. X-ray examination of the hands on 18 September 1974 showed osteolytic changes of the distal phalanges of fingers I-III, bilaterally. (Fig. 3 C). These changes regressed during the following years. The last examination on 9 August 1977 showed central osteolysis in the distal phalanx of the right thumb. The remaining phalanges were hypoplastic, but of normal structure. (Fig. 3D). Minimal osteolytic changes were present at the terminal phalanges of some toes. The remaining skeleton was normal. Case IV. D.S. This 10-year-old Polish boy was admitted to the Paediatric Institute in Krakow, Poland, with a history of increased perspiration of the palms and soles for the last 4 years. He also had cornification of the skin in the sweating areas. He was born after a normal, full-term, fourth pregnancy to young parents. Birth weight was 3045 g, length, 52 cm. Unusual features noted at birth were mesomelic and acromelic lengthening of the extremities, large distal phalanges of the fingers and toes, and syndactyly of the second and third toes. The other siblings are normal. The boy's father, his two siblings, the father's mother, and her siblings all had large hands and feet, and all showed syndactyly of the second and third toes. The father claimed that his palms and soles perspired excessively and were cornified. He worked with a pneumatic drill. The x-ray examination of his hands, feet, skull, and chest were normal. At the time of examination the boy had comparatively large hands and feet with syndactyly of the second and third toes, bilaterally. The distal phalanges of the toes and fingers were large. The skin of the palms and soles were thickened and yellow and felt fatty and wet. No other abnormalities were detected. His mental development was normal. His measurements were: height 134.2 cm, span 140.0 cm, weight 26.9 kg (Fig. 4A-C). The extensive laboratory examinations concerning blood, urine, serum electrolytes and proteins, mucopolysaccharides, and karyotype were all normal. Capillaroscopy showed capillaries which were curved and showed thickening in their distal parts. X-ray examination of the hands and feet at the age of 16 months showed relatively long, tubular bones and prominent unguinal tufts of the terminal phalanges. The distal ends of the long bones demonstrated marked periosteal thickening. In the skull, the anterior fontanelle was large and there were multiple wormian bones along the lambdoid and sagittal sutures (Fig. 4 D - G ) . X-ray examination at the age of 10 years showed acroosteolytic changes of the terminal phalanges of the hands. The distal phalanges of the first toes were small, but no osteolytic changes were seen in the feet. The skeleton was slightly sclerotic and multiple wormian bones were again noted along the lambdoid suture. A minimal pefiosteal thickening of the ulnae could still be traced (Fig. 4 H).
Discussion
All cases show the radiographic signs of phalangeal osteolysis. However, each bears some characteristic radiographic and/or clinical features suggesting that they represent different entities.
Case I (Fig. 1A and B) is one of the most common type of IA with distal phalangeal bone resorption and
K. Kozlowski et al.: Acroosteolysis
recurrent skin changes at the tips of the fingers and toes. In spite of the absence of long-term observation the authors are confident that the diagnosis is the
phalangeal type of idiopathic acroosteolysis. Case H (Fig. 2 A - E ) is similar to the patients reported by Hozay [10]. Facial dysmorphism, mental retardation, and skin atrophy were present. The xray films from the early stages of the disease were normal. A selective IgA deficiency is associated with an autoimmune disease, a possible mechanism in this case. Case Ill (Fig. 3 A-D). This girl developed the disease following mumps. We do not know if this relationship is important. Flexion deformities at the interphalangeal joints and deformities of the tips of the affected fingers were prominent at the later stage. The osteolytic changes were unusual. They were symmetrical and limited to the same three phalanges in each hand (January 1973). This is an unusual finding in any disease, including IA, and they regressed in the following years. In October 1977 the affected phalanges, with the exception of the distal phalanx of the right thumb, were ossified and showed no osteolytic changes. They were smaller (hypoplastic) in relation to the unaffected fourth and fifth distal phalanges, but otherwise normal. Radiograms of the hands and feet before the disease was recognized are not available, and it is not possible to be certain whether Case III represents a phalangeal arrested IA (loss of bone substance known to be previously normal) or an unclassified bone dysplasia with delayed local ossification. A connective tissue disorder, possibly postviral, cannot be excluded with certainty. Association of bone changes with pancreatic disease is unlikely because of the absence of skin changes and normal biochemical findings. Further bone changes in pancreatic disease have different x-ray appearances. Osteolytic changes are multifocal and a periosteal elevation is a constant finding. The small jaw is an additional interesting finding in Case III (Fig. 3 A). Case IV(Fig. 4 A-H). This is another puzzling case in the series. Large hands, feet, and distal phalanges were noted at birth. At the age of 16 months these findings were confirmed by x-ray examination; large terminal phalanges with prominent ungual tufts were seen. Periosteal thickening of the long bones was also noted. The films of the skull showed dense bones, large anterior fontanelle, and multiple wormian bones. Reexamination at the age of 10 years showed osteolysis of the distal phalanges of the hands. Apart from slight increase in bone density, mini-
Fig. 3 A - D . Case III. Girl. Idiopathic
acroosteolysis? (unclassified bone dysplasia?) A Mandibular hypoplasia. B Flexure deformities at the interphalangeal joints. Note wide finger tips. C 1974, 8 years old. Acroosteolytic changes at fingers I-III. D 1977, 11 year old. Note the reconstruction of the affected distal phalanges and the semilunar defect at the distal phalanx of the right first finger
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Fig.4A-H. Case IV. Boy. Idiopathic acroosteolysis? (Unclassified bone dysplasia? Familial idiopathic osteoarthropathy?) A-C Ten years old. Shortened and widened distal phalanges. Note skin changes. Similar changes to those in the hands were present in the feet. Syndactylybetween toes II and III. D-G Sixteen month old. D Prominent ungual tufts. Marked periosteal thickening of the ulnar shaft. E Periosteal thickening at the medial aspect of the tibiae
mal periosteal thickening of the ulnae, and multiple wormian bones along the lambdoid sutures, the remainder of the skeletal survey was normal (Fig. 4 H ) . W e did not find any similar case in the literature. Some similarities exist between Case I V and familial idiopathic osteoarthropathy [1, 2]. These include clubbing of the fingers and toes and subperiosteal new bone formation early in life with regression of the changes in subsequent years. E c z e m a was noted in the family studied by Currarino et al. [2], but no skin changes were present in the second patient of Chamberlain et al. [1]. Acroosteolysis was not a feature of familial idiopathic osteoarthropathy. Does Case I V represent an idiopathic acroosteo-
lysis, an unclassified bone dysplasia, or a variant of familial idiopathic osteoarthropathy ? If there is inheritance in our cases, the type is uncertain. It is m o r e probably recessive, but dominant mutations cannot be excluded. In Case I I recessive inheritance is probable in view of the sisterbrother mating.
Conclusions 1. In spite of its limitations, radiology is the best and often only m e t h o d for diagnosing and differentiating IA.
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Fig. 4 A-H. Case IV. Boy. Idiopathic acroosteolysis? (Unclassified bone dysplasia? Familial idiopathic osteoarthropathy?) F and G Dense bones. Large anterior fontanelle. Multiple wormian bones along the sagittal and lambdoid sutures. H Ten years old. Osteolytic changes at the ends of the distal phalanges of all the fingers
2. T h e exact diagnosis m a y b e difficult o n the basis of a single i n v e s t i g a t i o n or e v e n l o n g - s t a n d i n g o b s e r v a t i o n d u r i n g childhood, as the disease m a y progress thereafter.
Acknowledgement. The authors wish to thank Dr. K. Helen Walsh from the Institute of Child Health for access to Cases II and III and kind assistance with the manuscript.
3. It m a y b e i m p o s s i b l e to d i f f e r e n t i a t e b e t w e e n the s y n d r o m e s of I A , b o n e dysplasias, a n d p o o r l y def i n e d i m m u n o l o g i c disorders.
References 1. Chamberlain, D.S., Whittaker, J. A., Silverman, F. N.: Idiopathic osteoarthropathy and cranial defects in children (fa-
86 milial idiopathic osteoarthropathy). Am. J. Roemgenol. 93, 408 (1965) 2. Currarino, G., Tierney, R. C., Giesel, R. G., Weihl, C.: Familial idiopathic osteoarthropathy. Am. J. Roentgenol. 85, 633 (1961) 3. Franqois, J.: Dystrophie dermo-chondro-corndenne familiale. Ann. Oculist. 182, 409 (1949) 4. Gorham, L. W., Stout, A. P.: Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone); its relation to hemangiomatosis. J. Bone Jt. Surg. 37-A, 985 (1955) 5. Hajdu, N., Kauntze, R.: Cranioskeletal dysplasia. Br. J. Radiol. 21, 42 (1948) 6. Kozlowski, K., Hanicka, M., Garapich, M.: Neurogene ulcerierende Akropathie (Akroosteolyse-Syndrome). Monatsschr. Kinderheilkd. 119, 169 (1971) 7. Maroteaux, P.: Maladies osseuses de l'enfant. Paris: Flammarion M6decine-Sciences 1974
K. Kozlowski et al.: Acroosteolysis 8. Spranger, J. W., Langer, L. O., Wiedemann, H. R.: Bone dysplasias. An atlas of constitutional disorders of skeletal development. Philadelphia, Toronto: W. B. Saunders Co. 1974 9. Torg, J.S., Digeorge, A.M., Kirkpatrick, J. A., Jr., Trujillo, M. M.: Hereditary multicentric osteolysis with recessive transmission: a new syndrome. J. Pediatr. 75, 243 (1969) 10. Hozay J.: Sur une dystrophie familiale partculiere. Rev. Neurol. 89, 245 (1953) Date of final acceptance: January 4, 1979
K. Kozlowski, M. D. Staff Radiologist Royal Alexandra Hospital for Children Camperdown 2050 (Sydney) N. S. W. Australia
Pediatr. Radiol. 8, 79-86 (1979)
9 by Springer-Verlag 1979
Acroosteolysis Problems of Diagnosis - Report of Four Cases K. Kozlowski, A. Barylak, F. Eftekhari, K. Pasyk, and E. Wislocka Department of Radiology, Royal Alexandra Hospital for Children, Sydney, Australia, Paediatric Institute of the Medical Academy, Krakow, Poland, and Children's Hospital, Teheran, Iran
Abstract. Four cases of idiopathic acroosteolysis are reported. The first is a common phalangeal type, the second, the Hozay variety. The third case was diagnosed after a mumps infection, and marked regress of the changes was noted in the following years. The fourth case shows skin changes, periostitis, mild osteosclerosis, and skullchanges as well as acroosteolysis. Key words: Idiopathic acroosteolysis - Bone dysplasia - Periostitis - Wormian bones - Immunologic disorders
Idiopathic acroosteolysis (IA) is a group of diseases of unknown etiology, characterized by progressive acroosteolysis of the hands and feet. Proximal parts of the extremities and the axial skeleton may also be affected. The disease is often accompanied by recurrent ulcers of the fingers, toes, palms, and soles, elimination of the sequestrae, and healing with subsequent loss of toes and fingers. Distal neurologic sensitivity defects are sometimes present. The prognosis in early stages of the disease is unpredictable. The variability of the radiographic and clinical appearances of IA is surprising, and there is no doubt that they constitute a group of different, but probably related, diseases. Numerous reports of single and familial cases helped in tabulation of various forms of IA bearing similar radiographic, clinical, and genetic features, but many cases are unclassifiable. There are several difficulties in classification of IA. The relative rarity of the disease, the nonconclusive or normal clinical, biochemical, and histologic findings, and finally the paucity of information about the early and late stages of the disease result in the
descriptive radiographic findings being the major criteria for classification. The radiologist therefore should be familiar with the radiographic approach to the problem. Radiologically, two major groups of IA can be differentiated: one with diagnostic or characteristic radiographic features, which comprises the Franqois [3], Hajdu [5], and Torg [9] varieties, and one with less characteristic radiographic features, which comprises the phalangeal, phalangocarpotarsal, carpotarsal, and multicentric groups. Associated clinical features, such as skin ulcerations, sensory deficits, skin changes, mental retardation, facial dysmorphism, and nephropathies, together with the type of inheritance allow a more specific classification. The reader is referred for further information to individual papers [6] and specifically to the textbooks of Maroteaux [7] and Spranger et al. [8]. Acroosteolysis is often part of well-recognized syndromes (e. g., pyknodysostosis, progeria) or diseases (e. g., hyperparathyroidism, rheumatoid arthritis), most of which are easily recognized when history, clinical and biochemical data, and diagnostic findings are properly considered. Gorham disease [4], which can affect every single bone, often with complete dissolution, is often preceded by trauma and may be a manifestation of aggressive hemangiomatosis.
Case Reports Case 1. This 7-year-old boy was admitted to the Children's Hospital, Teheran, Iran, with a 4-year history of ulcerations of the distal phalanges and recurrent blistering and subsequent crust formation and scarring associated with an itching sensation. The pregnancy and delivery were normal. Normal growth and development occurred during the first 3 years of life. The family history was noncontributory.
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Fig. 1 A and B. Case I. Seven-yearold boy. Idiopathic acroosteolysis (phalangeal type). Left hand and right foot. Osteolytic changes at the distal phalanges of fingers II-IV and distal phalanx of the toe. Similar changes were present in the right hand and left foot On physical examination, resorption of soft tissue at the distal phalanges with partial amputation was present, but there was no remarkable loss of sensation. There was 1.5 cm hepatomegaly. Skin biopsy revealed foci of collagen, degeneration, and chronic inflammatory infiltration. The routine blood and urine tests including blood electrolytes were normal. Cultures from the ulcers of the skin were negative for tuberculosis and leprosy. The bone marrow was normal. Tests for antinuclear factor. LE cells, and porphyrin studies were normal. The x-ray examination showed changes characteristic for acroosteolysis (Fig. 1 A and B).
Case IL This Australian girl is the offspring of a brother-sister mating. She was born in 1965 and was said to be normal at birth, but was investigated for failing to thrive at 4 months when a corneal ulcer was noted. At 3 years she developed peripheral gangrene of some fingers and toes during the harsh winter experienced in the country town where she lives. The skin lesions were initially blisters which became ulcers; some became gangrenous and amputation of the tips of one finger and one toe was necessary. Symptoms became worse on exposure to cold and trauma. In 1969 she was admitted to the Royal Alexandra Hospital for Children, Sydney, and was subsequently investigated at this and several other hospitals for the same condition. In 1974 she was again admitted to hospital because of peripheral ischemic changes in her fingers and toes and ulceration over the nasal bridge. She was noted to have scleroderma-like changes of the skin of both hands, but no rashes, gingivitis, or angular stomatitis. There was no dental decay, but chronic otitis media was present. When reviewed in 1977, she presented as a dull 12-year-old girl whose height and weight were progressing along the tenth percentiles. The tips of the third digit of the right hand and the fourth toe of the left foot were missing. The skin of her face and dorsum of both hands and feet showed atrophy and telangiectasia and there was slight sclerosis of the
terminal phalanges of her feet and hands, but no sclerodactyty present (Fig. 2A-C). No specific therapy has been offered except protection from cold and trauma and treatment of skin and ear infections with appropriate antibiotics. Investigations have been extensive. Blood counts; blood urea; and serum creatinine phosphorus, calcium, and magnesium have always been normal. LE phenomenon, R A latex cells, ANF, antibodies to smooth muscle, and VDRL were negative. Porphyrin studies of urine and blood were normal. Urinary amino acids and urinary indoles showed a normal pattern. Immunologic investigation was noncontributory except that IgA was noted to be low. Serum complement, cryoglobulins, cryofibrinogen, and Coomb's test were normal. Nerve conduction studies were normal. Her karyotype was a normal female, 46XX. Skin and muscle biopsies were taken from three separate areas. The one taken from the hand was not diagnostic, but compatible with the diagnosis of an acrosclerotic variety of scleroderma or familial or idiopathic nonfamilial acroosteolysis. X-ray examination on 29 June 1973 showed changes characteristic for acroosteolysis. Repeat x-ray examination on 9 August 1977 showed progress of the acroosteolytic changes (Fig. 2D and E).
Case II1. This 8-year-old Yugoslav-Australian girl was admitted to the Royal Alexandra Hospital for Children, Sydney, on 29 December 1972 with a 6-month history of intermittent pain in the neck, interphalangeal joints, and ankles. The interphalangeal and ankle joints were intermittently swollen. Symptoms had appeared after clinically uncomplicated mumps. Physical examination at admission revealed that the interphalangeal joints were swollen and painful with limitation of movement. The remaining joints were normal. Her lower jaw was recorded as small. The lymph nodes in the neck and axillae were enlarged. No other abnormalities were noted (Fig. 3 A and B). Extensive laboratory tests were performed. Routine blood and
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81
Fig. 2 A - E . Case II. Twelve-year-old girl. Idiopathic acroosteolysis (Hozay type). A Facial dysmorphism. Hypertelorism. B and C Note skin and nail changes. Amputation of the distal phalanx of the right middle finger. D Acroosteolytic changes of the distal phalanges of fingers U-IV of the left hand and at the distal phalanges of fingers I, II and IV of the right hand. The distal phalanx of the right middle finger is missing. E Acroosteolytic changes of the medial aspect of the distal phalanx of the right toe
82 urine tests and serum electrolytes were normal. The ASO titer and ESR were normal. The R A test was positive. LE cells were not detected. Estimation of serum proteins and electrophoretic pattern showed a low value for alpha globulin and a raised gamma globulin. X-ray examination of the hands on 18 September 1974 showed osteolytic changes of the distal phalanges of fingers I-III, bilaterally. (Fig. 3 C). These changes regressed during the following years. The last examination on 9 August 1977 showed central osteolysis in the distal phalanx of the right thumb. The remaining phalanges were hypoplastic, but of normal structure. (Fig. 3D). Minimal osteolytic changes were present at the terminal phalanges of some toes. The remaining skeleton was normal. Case IV. D.S. This 10-year-old Polish boy was admitted to the Paediatric Institute in Krakow, Poland, with a history of increased perspiration of the palms and soles for the last 4 years. He also had cornification of the skin in the sweating areas. He was born after a normal, full-term, fourth pregnancy to young parents. Birth weight was 3045 g, length, 52 cm. Unusual features noted at birth were mesomelic and acromelic lengthening of the extremities, large distal phalanges of the fingers and toes, and syndactyly of the second and third toes. The other siblings are normal. The boy's father, his two siblings, the father's mother, and her siblings all had large hands and feet, and all showed syndactyly of the second and third toes. The father claimed that his palms and soles perspired excessively and were cornified. He worked with a pneumatic drill. The x-ray examination of his hands, feet, skull, and chest were normal. At the time of examination the boy had comparatively large hands and feet with syndactyly of the second and third toes, bilaterally. The distal phalanges of the toes and fingers were large. The skin of the palms and soles were thickened and yellow and felt fatty and wet. No other abnormalities were detected. His mental development was normal. His measurements were: height 134.2 cm, span 140.0 cm, weight 26.9 kg (Fig. 4A-C). The extensive laboratory examinations concerning blood, urine, serum electrolytes and proteins, mucopolysaccharides, and karyotype were all normal. Capillaroscopy showed capillaries which were curved and showed thickening in their distal parts. X-ray examination of the hands and feet at the age of 16 months showed relatively long, tubular bones and prominent unguinal tufts of the terminal phalanges. The distal ends of the long bones demonstrated marked periosteal thickening. In the skull, the anterior fontanelle was large and there were multiple wormian bones along the lambdoid and sagittal sutures (Fig. 4 D - G ) . X-ray examination at the age of 10 years showed acroosteolytic changes of the terminal phalanges of the hands. The distal phalanges of the first toes were small, but no osteolytic changes were seen in the feet. The skeleton was slightly sclerotic and multiple wormian bones were again noted along the lambdoid suture. A minimal pefiosteal thickening of the ulnae could still be traced (Fig. 4 H).
Discussion
All cases show the radiographic signs of phalangeal osteolysis. However, each bears some characteristic radiographic and/or clinical features suggesting that they represent different entities.
Case I (Fig. 1A and B) is one of the most common type of IA with distal phalangeal bone resorption and
K. Kozlowski et al.: Acroosteolysis
recurrent skin changes at the tips of the fingers and toes. In spite of the absence of long-term observation the authors are confident that the diagnosis is the
phalangeal type of idiopathic acroosteolysis. Case H (Fig. 2 A - E ) is similar to the patients reported by Hozay [10]. Facial dysmorphism, mental retardation, and skin atrophy were present. The xray films from the early stages of the disease were normal. A selective IgA deficiency is associated with an autoimmune disease, a possible mechanism in this case. Case Ill (Fig. 3 A-D). This girl developed the disease following mumps. We do not know if this relationship is important. Flexion deformities at the interphalangeal joints and deformities of the tips of the affected fingers were prominent at the later stage. The osteolytic changes were unusual. They were symmetrical and limited to the same three phalanges in each hand (January 1973). This is an unusual finding in any disease, including IA, and they regressed in the following years. In October 1977 the affected phalanges, with the exception of the distal phalanx of the right thumb, were ossified and showed no osteolytic changes. They were smaller (hypoplastic) in relation to the unaffected fourth and fifth distal phalanges, but otherwise normal. Radiograms of the hands and feet before the disease was recognized are not available, and it is not possible to be certain whether Case III represents a phalangeal arrested IA (loss of bone substance known to be previously normal) or an unclassified bone dysplasia with delayed local ossification. A connective tissue disorder, possibly postviral, cannot be excluded with certainty. Association of bone changes with pancreatic disease is unlikely because of the absence of skin changes and normal biochemical findings. Further bone changes in pancreatic disease have different x-ray appearances. Osteolytic changes are multifocal and a periosteal elevation is a constant finding. The small jaw is an additional interesting finding in Case III (Fig. 3 A). Case IV(Fig. 4 A-H). This is another puzzling case in the series. Large hands, feet, and distal phalanges were noted at birth. At the age of 16 months these findings were confirmed by x-ray examination; large terminal phalanges with prominent ungual tufts were seen. Periosteal thickening of the long bones was also noted. The films of the skull showed dense bones, large anterior fontanelle, and multiple wormian bones. Reexamination at the age of 10 years showed osteolysis of the distal phalanges of the hands. Apart from slight increase in bone density, mini-
Fig. 3 A - D . Case III. Girl. Idiopathic
acroosteolysis? (unclassified bone dysplasia?) A Mandibular hypoplasia. B Flexure deformities at the interphalangeal joints. Note wide finger tips. C 1974, 8 years old. Acroosteolytic changes at fingers I-III. D 1977, 11 year old. Note the reconstruction of the affected distal phalanges and the semilunar defect at the distal phalanx of the right first finger
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Fig.4A-H. Case IV. Boy. Idiopathic acroosteolysis? (Unclassified bone dysplasia? Familial idiopathic osteoarthropathy?) A-C Ten years old. Shortened and widened distal phalanges. Note skin changes. Similar changes to those in the hands were present in the feet. Syndactylybetween toes II and III. D-G Sixteen month old. D Prominent ungual tufts. Marked periosteal thickening of the ulnar shaft. E Periosteal thickening at the medial aspect of the tibiae
mal periosteal thickening of the ulnae, and multiple wormian bones along the lambdoid sutures, the remainder of the skeletal survey was normal (Fig. 4 H ) . W e did not find any similar case in the literature. Some similarities exist between Case I V and familial idiopathic osteoarthropathy [1, 2]. These include clubbing of the fingers and toes and subperiosteal new bone formation early in life with regression of the changes in subsequent years. E c z e m a was noted in the family studied by Currarino et al. [2], but no skin changes were present in the second patient of Chamberlain et al. [1]. Acroosteolysis was not a feature of familial idiopathic osteoarthropathy. Does Case I V represent an idiopathic acroosteo-
lysis, an unclassified bone dysplasia, or a variant of familial idiopathic osteoarthropathy ? If there is inheritance in our cases, the type is uncertain. It is m o r e probably recessive, but dominant mutations cannot be excluded. In Case I I recessive inheritance is probable in view of the sisterbrother mating.
Conclusions 1. In spite of its limitations, radiology is the best and often only m e t h o d for diagnosing and differentiating IA.
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Fig. 4 A-H. Case IV. Boy. Idiopathic acroosteolysis? (Unclassified bone dysplasia? Familial idiopathic osteoarthropathy?) F and G Dense bones. Large anterior fontanelle. Multiple wormian bones along the sagittal and lambdoid sutures. H Ten years old. Osteolytic changes at the ends of the distal phalanges of all the fingers
2. T h e exact diagnosis m a y b e difficult o n the basis of a single i n v e s t i g a t i o n or e v e n l o n g - s t a n d i n g o b s e r v a t i o n d u r i n g childhood, as the disease m a y progress thereafter.
Acknowledgement. The authors wish to thank Dr. K. Helen Walsh from the Institute of Child Health for access to Cases II and III and kind assistance with the manuscript.
3. It m a y b e i m p o s s i b l e to d i f f e r e n t i a t e b e t w e e n the s y n d r o m e s of I A , b o n e dysplasias, a n d p o o r l y def i n e d i m m u n o l o g i c disorders.
References 1. Chamberlain, D.S., Whittaker, J. A., Silverman, F. N.: Idiopathic osteoarthropathy and cranial defects in children (fa-
86 milial idiopathic osteoarthropathy). Am. J. Roemgenol. 93, 408 (1965) 2. Currarino, G., Tierney, R. C., Giesel, R. G., Weihl, C.: Familial idiopathic osteoarthropathy. Am. J. Roentgenol. 85, 633 (1961) 3. Franqois, J.: Dystrophie dermo-chondro-corndenne familiale. Ann. Oculist. 182, 409 (1949) 4. Gorham, L. W., Stout, A. P.: Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone); its relation to hemangiomatosis. J. Bone Jt. Surg. 37-A, 985 (1955) 5. Hajdu, N., Kauntze, R.: Cranioskeletal dysplasia. Br. J. Radiol. 21, 42 (1948) 6. Kozlowski, K., Hanicka, M., Garapich, M.: Neurogene ulcerierende Akropathie (Akroosteolyse-Syndrome). Monatsschr. Kinderheilkd. 119, 169 (1971) 7. Maroteaux, P.: Maladies osseuses de l'enfant. Paris: Flammarion M6decine-Sciences 1974
K. Kozlowski et al.: Acroosteolysis 8. Spranger, J. W., Langer, L. O., Wiedemann, H. R.: Bone dysplasias. An atlas of constitutional disorders of skeletal development. Philadelphia, Toronto: W. B. Saunders Co. 1974 9. Torg, J.S., Digeorge, A.M., Kirkpatrick, J. A., Jr., Trujillo, M. M.: Hereditary multicentric osteolysis with recessive transmission: a new syndrome. J. Pediatr. 75, 243 (1969) 10. Hozay J.: Sur une dystrophie familiale partculiere. Rev. Neurol. 89, 245 (1953) Date of final acceptance: January 4, 1979
K. Kozlowski, M. D. Staff Radiologist Royal Alexandra Hospital for Children Camperdown 2050 (Sydney) N. S. W. Australia
