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Delayed infantile cortical hyperostosis (Caffey's disease): Case report
Int. J. Oral Maxillofae. Surg. 1995; 24:303-305 Printed in Denmark. All rights reserved
Copyright © Munksgaard 1995 lntcmationalJournalof
Ord & MaxillofacialSurgery ISSN 0901-5027
Medicine
Delayed infantile cortical hyperostosis (Caffey's disease):
K. Antonlades ~, A. Kommata ~, M. Emporiadou 2, E. Karlki ~ ~Department of Oral and Maxillofacial Surgery, School of Dentistry, and 24th Paediatric Clinic, School of Medicine, Aristotle University of Thessaloniki, Greece
case report K. Antoniades, A. Kommata, M. Emporiadou, E. Karik# Delayed h:fantile cortical hyperostosis (Caffey's disease): case report, htt. J. Oral Maxillofac. Surg. 1995; 24: 303-305. © Munksgaard, 1995 Abstract. Late recurrence or a delayed form o f Caffey's disease is an exceedingly rare condition of unknown cause. A 3q2-year-old boy is presented with delayed Caffey's disease showing unilateral involvement of maxilla and zygoma.
Infantile cortical hyperostosis, also known as Caffey's disease or Caffey-Silverman syndrome, is an uncommon condition of unknown cause and uncertain pathogenesis 9. The condition presents with pain, swelling, and inflammation in a localized area, often the mandible, stioulder girdle, or limb. The acute episode is accompanied by pyrexia, leukocytosis, anemia, and raised erythrocyte sedimentation rate. The natural history of the disease has proven to be self-limiting, but relapse is not unusual. The disorder most frequently affects infants under 6 months o f age, and it has been demonstrated in the fetus in utero 5-8' Io. BLANK2 suggests that some unexplained episodes of pain and cortical thickening in older children may represent recurrences in patients in whom the infantile phase of the disease has not been severe enough to call attention to it. The most frequently affected bone is the mandible, at least three of every four reported cases experiencing mandibular enlargement, while bilateral invoh'ement is possibles. It is common for multiple bones to be invoh'ed at the same time ~. Radiographically, the cortices of affected bone are widened and sclerotic, with irregular contour. The hyperos-
tosis usually lags behind the clinical appearance of the soft-tissue swelling, so that inability to demonstrate roentgenographic evidence of the disease early in its course is not uncommon, and actually should be expected. With remission of the illness, the bone regains its normal appearance with few, if any, residual stigmata in the adult s. 10. A unilateral facial occurrence of delayed Caffey's disease in a 3~-year-old boy is presented.
Key words: infantile cortical hyperostosis; Caffey's disease. Accepted for publication 10 April 1995
lateral enlarged hard palate and maxilla with no signs of malocclusion (Fig. 1). The results of laboratory testing x~erewithin normal limits, except for mild anemia, increased erythocyte sedimentation, and C-reactive protein rates. Radiographic examination revealed gross thickening and sclerosis of the right maxilla and zygomatic bone (Figs. 2a and 3). Technetium-99m bone scanning showed increased uptake in the affected area (Fig. 4). An intraoral biopsy was performed on the anterior area of the right maxillary sinus while the patient was under general anesthesia. The maxillary bone appeared to be very thick and dense, and histologic examin-
Case report The patient, a 3~-year-old boy, was admitted for evaluation of swelling of the right cheek, edema of the right lower eyelid, and nasal obstruction of 3 months' duration. He was the first of two children of healthy, unrelated parents with no significant family history. The facial swelling appeared suddenly and was tender to palpation, and it was associated with general symptoms mimicking infectious disease. The patient x~zsfebrile (temperature not exceeding 38.5°C) for 2 weeks, and he was given cefaclor for 4 weeks, but the swelling showed no improvement. At presentation, the child was afebrile and physical examination revealed unilateral softand hard-tissue sxxellingover the right cheek and palate with no signs of inflammation, edema of the right lower eyelid with pigmented skin, and localized pain elicited by direct pressure on the cheek. There was a uni-
\
J
Fig. 1. Face of patient showing swelling of right cheek and edema of lower eyelid.
304
Antoniades et aL
Fig. 2. Panoramic radiographs, initial (A) and 1 year later (B), demonstrating improvement in affected area.
relapses, the radiologic abnormalities had significantly improved by then (Fig. 2B). Discussion
Fig. 3. Computed tomography scan demonstrating thickening and sclerosis of right maxillary and zygomatic bones.
Infantile cortical hyperostosis is usually a self-limiting condition with symptoms lasting from 2-3 weeks to 2-3 months. Although complete clinical resolution takes place within 3-30 months (average, 9 months), roentgenographic evidence of the condition may persist for many years 5. The disease sometimes recurs suddenly in its original site or in a new site either during or after the subsidence of the initial swelling3.4.1°. Late recurrence or a delayed form of Caffey's disease seems to be exceedingly rare and only a few cases have been previously reported 3,4. The possibility that
mild cortical infantile hyperostosis might not be diagnosed in infancy and might recur at a later age, presenting as bone pain with or without soft-tissue swelling, has been advanced as an explanation of its occurrence beyond infancy2. On the other hand, DE BOISSIEU et al.4 suggest that the delayed form constitutes a distinct homogeneous syndrome of unknown cause. Although Caffey's disease has been classically regarded as a sporadic disease and thought to be inflammatory and perhaps infectious, autosomal dominant inheritance has been documented in some families t,3. Infantile cortical hyperostosis has been demonstrated in all of the tubular bones except the phalanges; in the fiat bones, it appears more commonly in
Fig. 4. 99mTC scan showing increased uptake in right zygomatic maxillary area.
ation of soft-tissue and bone samples revealed swollen periosteum losing its peripheral limits and blending into the contiguous tissues. Features of ossifying periostitis and edema of surrounding soft tissues was clearly seen. The osteoid trabeculae appeared within rather densely packed and cellular collagenous connective tissue, and the bone marrow was fibrotic (Fig. 5). The histologic examination was found to be compatible with the diagnosis of infantile cortical hyperostosis. The combination of the clinical, radiographic, and histopathologic fndings led to the diagnosis of delayed infantile cortical hyperostosis. The child was reexamined I year later, and, although the clinical course of the disease was characterized by remissions and
Fig. 5. Decalcified section showing swollen periosteum and features of ossifying periostitis (A). Osteoid trabeculae appear within rather densely packed and cellular collagenous connective tissue, and bone marrow is fibrotic (B)
Delayed h(antile cortical hyperostosis the mandible, scapula, ilium, parietal bone, and frontal bone 5. Multiple areas are involved in most cases. These polyostotic forms are easily clinically diagnosed, but in rare monostotic presentations there may be strong suspicion o f a malignant t u m o r ~ or osteomyelitis z2. We believe that the patient reported is the first to be described with unilateral involvement of only the maxillary and zygomatic bones as a delayed f o r m o f Caffey's disease.
References 1. BHGHrGN E McKusick's heritable disorders of connective tissue. 5th ed. St Louis, MO: Mosb), 1993: 667. 2. BLANKE. Recurrent Caffey's cortical hyperostosis and persistent deformity. Pediatrics 1975: 55: 856-60. 3. BOROCIIOWITZZ, GOZAL D, I~ilSSELEV-
1Tell I, AUNALLAtl J, Boss J. Familial Caffey's disease and late recurrence in a child. Clin Genet 1991: 40: 329-35. 4. DE BOISSIEUD, BUISSONIF:RERF, PONSOr G, SELLIER N, I~,iAROTEAUXP. Delayed cortical hyperostosis in children. Arch Fr Pediatr 1989: 46: 439-42. 5. GORLIN R, COIIEN MM, LEVlN L. Syndromes of the head and neck. 3rd ed. New York: Oxford University Press, ! 990: 260-3. 6. NEWBERG AH, TAMPASJP. Familial infantile cortical hyperostosis: an update. Am J Roentgenol 1981: 137: 93-6. 7. PAJEWSKI M, VURE E. Late manifestations of infantile cortical hyperostosis (Caffey's disease). Br J Radiol 1967: 40: 90-5. 8. PAZZAGHAU, B~'ERSP, BELUm G, CHmICO G, RONDINI G, CECILIANIL. Pathology of infantile cortical hyperostosis (Caffey's disease). J Bone Joint Surg 1985: 67(A): 1417-26. 9. SAULRA, LEE WH, STEVENSONRE. Car-
305
fcy's disease revisited. Further evidence for autosomal dominant inheritance with incomplete penetrance. Am J Dis Child 1982: 136: 56-60. 10. SILVER.MANE Caffey's pediatric x-ray diagnosis. 8th ed. Chicago: Year Book Medical Publications, 1985: 841-9. 11. SHLLERD. Infantile cortical hyperostosis (Caffey-Silverman syndrome), ttistological, histochemical and electron microscopic studies. Zentralbl Allg Pathol 1990: 136: 151-9. 12. ZACnARIADESN, SKORDALAKIA, PAPANICOLAOU S, XYPOLYTA A. Infantile cortical hypcrostosis, report of two cases. J
Oral Maxillofac Surg 1986: 44: 644-8.
Address:
Dr K: Antoniades Aristotle University of Thessaloniki School of Dentistry 54006 Thessaloniki Greece
Copyright © Munksgaard 1995 lntcmationalJournalof
Ord & MaxillofacialSurgery ISSN 0901-5027
Medicine
Delayed infantile cortical hyperostosis (Caffey's disease):
K. Antonlades ~, A. Kommata ~, M. Emporiadou 2, E. Karlki ~ ~Department of Oral and Maxillofacial Surgery, School of Dentistry, and 24th Paediatric Clinic, School of Medicine, Aristotle University of Thessaloniki, Greece
case report K. Antoniades, A. Kommata, M. Emporiadou, E. Karik# Delayed h:fantile cortical hyperostosis (Caffey's disease): case report, htt. J. Oral Maxillofac. Surg. 1995; 24: 303-305. © Munksgaard, 1995 Abstract. Late recurrence or a delayed form o f Caffey's disease is an exceedingly rare condition of unknown cause. A 3q2-year-old boy is presented with delayed Caffey's disease showing unilateral involvement of maxilla and zygoma.
Infantile cortical hyperostosis, also known as Caffey's disease or Caffey-Silverman syndrome, is an uncommon condition of unknown cause and uncertain pathogenesis 9. The condition presents with pain, swelling, and inflammation in a localized area, often the mandible, stioulder girdle, or limb. The acute episode is accompanied by pyrexia, leukocytosis, anemia, and raised erythrocyte sedimentation rate. The natural history of the disease has proven to be self-limiting, but relapse is not unusual. The disorder most frequently affects infants under 6 months o f age, and it has been demonstrated in the fetus in utero 5-8' Io. BLANK2 suggests that some unexplained episodes of pain and cortical thickening in older children may represent recurrences in patients in whom the infantile phase of the disease has not been severe enough to call attention to it. The most frequently affected bone is the mandible, at least three of every four reported cases experiencing mandibular enlargement, while bilateral invoh'ement is possibles. It is common for multiple bones to be invoh'ed at the same time ~. Radiographically, the cortices of affected bone are widened and sclerotic, with irregular contour. The hyperos-
tosis usually lags behind the clinical appearance of the soft-tissue swelling, so that inability to demonstrate roentgenographic evidence of the disease early in its course is not uncommon, and actually should be expected. With remission of the illness, the bone regains its normal appearance with few, if any, residual stigmata in the adult s. 10. A unilateral facial occurrence of delayed Caffey's disease in a 3~-year-old boy is presented.
Key words: infantile cortical hyperostosis; Caffey's disease. Accepted for publication 10 April 1995
lateral enlarged hard palate and maxilla with no signs of malocclusion (Fig. 1). The results of laboratory testing x~erewithin normal limits, except for mild anemia, increased erythocyte sedimentation, and C-reactive protein rates. Radiographic examination revealed gross thickening and sclerosis of the right maxilla and zygomatic bone (Figs. 2a and 3). Technetium-99m bone scanning showed increased uptake in the affected area (Fig. 4). An intraoral biopsy was performed on the anterior area of the right maxillary sinus while the patient was under general anesthesia. The maxillary bone appeared to be very thick and dense, and histologic examin-
Case report The patient, a 3~-year-old boy, was admitted for evaluation of swelling of the right cheek, edema of the right lower eyelid, and nasal obstruction of 3 months' duration. He was the first of two children of healthy, unrelated parents with no significant family history. The facial swelling appeared suddenly and was tender to palpation, and it was associated with general symptoms mimicking infectious disease. The patient x~zsfebrile (temperature not exceeding 38.5°C) for 2 weeks, and he was given cefaclor for 4 weeks, but the swelling showed no improvement. At presentation, the child was afebrile and physical examination revealed unilateral softand hard-tissue sxxellingover the right cheek and palate with no signs of inflammation, edema of the right lower eyelid with pigmented skin, and localized pain elicited by direct pressure on the cheek. There was a uni-
\
J
Fig. 1. Face of patient showing swelling of right cheek and edema of lower eyelid.
304
Antoniades et aL
Fig. 2. Panoramic radiographs, initial (A) and 1 year later (B), demonstrating improvement in affected area.
relapses, the radiologic abnormalities had significantly improved by then (Fig. 2B). Discussion
Fig. 3. Computed tomography scan demonstrating thickening and sclerosis of right maxillary and zygomatic bones.
Infantile cortical hyperostosis is usually a self-limiting condition with symptoms lasting from 2-3 weeks to 2-3 months. Although complete clinical resolution takes place within 3-30 months (average, 9 months), roentgenographic evidence of the condition may persist for many years 5. The disease sometimes recurs suddenly in its original site or in a new site either during or after the subsidence of the initial swelling3.4.1°. Late recurrence or a delayed form of Caffey's disease seems to be exceedingly rare and only a few cases have been previously reported 3,4. The possibility that
mild cortical infantile hyperostosis might not be diagnosed in infancy and might recur at a later age, presenting as bone pain with or without soft-tissue swelling, has been advanced as an explanation of its occurrence beyond infancy2. On the other hand, DE BOISSIEU et al.4 suggest that the delayed form constitutes a distinct homogeneous syndrome of unknown cause. Although Caffey's disease has been classically regarded as a sporadic disease and thought to be inflammatory and perhaps infectious, autosomal dominant inheritance has been documented in some families t,3. Infantile cortical hyperostosis has been demonstrated in all of the tubular bones except the phalanges; in the fiat bones, it appears more commonly in
Fig. 4. 99mTC scan showing increased uptake in right zygomatic maxillary area.
ation of soft-tissue and bone samples revealed swollen periosteum losing its peripheral limits and blending into the contiguous tissues. Features of ossifying periostitis and edema of surrounding soft tissues was clearly seen. The osteoid trabeculae appeared within rather densely packed and cellular collagenous connective tissue, and the bone marrow was fibrotic (Fig. 5). The histologic examination was found to be compatible with the diagnosis of infantile cortical hyperostosis. The combination of the clinical, radiographic, and histopathologic fndings led to the diagnosis of delayed infantile cortical hyperostosis. The child was reexamined I year later, and, although the clinical course of the disease was characterized by remissions and
Fig. 5. Decalcified section showing swollen periosteum and features of ossifying periostitis (A). Osteoid trabeculae appear within rather densely packed and cellular collagenous connective tissue, and bone marrow is fibrotic (B)
Delayed h(antile cortical hyperostosis the mandible, scapula, ilium, parietal bone, and frontal bone 5. Multiple areas are involved in most cases. These polyostotic forms are easily clinically diagnosed, but in rare monostotic presentations there may be strong suspicion o f a malignant t u m o r ~ or osteomyelitis z2. We believe that the patient reported is the first to be described with unilateral involvement of only the maxillary and zygomatic bones as a delayed f o r m o f Caffey's disease.
References 1. BHGHrGN E McKusick's heritable disorders of connective tissue. 5th ed. St Louis, MO: Mosb), 1993: 667. 2. BLANKE. Recurrent Caffey's cortical hyperostosis and persistent deformity. Pediatrics 1975: 55: 856-60. 3. BOROCIIOWITZZ, GOZAL D, I~ilSSELEV-
1Tell I, AUNALLAtl J, Boss J. Familial Caffey's disease and late recurrence in a child. Clin Genet 1991: 40: 329-35. 4. DE BOISSIEUD, BUISSONIF:RERF, PONSOr G, SELLIER N, I~,iAROTEAUXP. Delayed cortical hyperostosis in children. Arch Fr Pediatr 1989: 46: 439-42. 5. GORLIN R, COIIEN MM, LEVlN L. Syndromes of the head and neck. 3rd ed. New York: Oxford University Press, ! 990: 260-3. 6. NEWBERG AH, TAMPASJP. Familial infantile cortical hyperostosis: an update. Am J Roentgenol 1981: 137: 93-6. 7. PAJEWSKI M, VURE E. Late manifestations of infantile cortical hyperostosis (Caffey's disease). Br J Radiol 1967: 40: 90-5. 8. PAZZAGHAU, B~'ERSP, BELUm G, CHmICO G, RONDINI G, CECILIANIL. Pathology of infantile cortical hyperostosis (Caffey's disease). J Bone Joint Surg 1985: 67(A): 1417-26. 9. SAULRA, LEE WH, STEVENSONRE. Car-
305
fcy's disease revisited. Further evidence for autosomal dominant inheritance with incomplete penetrance. Am J Dis Child 1982: 136: 56-60. 10. SILVER.MANE Caffey's pediatric x-ray diagnosis. 8th ed. Chicago: Year Book Medical Publications, 1985: 841-9. 11. SHLLERD. Infantile cortical hyperostosis (Caffey-Silverman syndrome), ttistological, histochemical and electron microscopic studies. Zentralbl Allg Pathol 1990: 136: 151-9. 12. ZACnARIADESN, SKORDALAKIA, PAPANICOLAOU S, XYPOLYTA A. Infantile cortical hypcrostosis, report of two cases. J
Oral Maxillofac Surg 1986: 44: 644-8.
Address:
Dr K: Antoniades Aristotle University of Thessaloniki School of Dentistry 54006 Thessaloniki Greece