Xray of infantile cortical hyperostosis highres stock. Oct 20, 2008 infantile cortical hyperostosis michael curtin irish journal of medical science 19261967 volume 27, article number. A novel col1a1 mutation in infantile cortical hyperostosis. View topquality stock photos of xray of infantile cortical hyperostosis.
Infantile cortical hyperostosis, or caffeysilverman disease, is a rare condition characterised by generalised bone proliferation mediated by an acute inflammatory process. Xray of infantile cortical hyperostosis highres stock photo. Infantile cortical hyperostosis archives of disease in. It appears that it is more common than is generally known. Longterm deformities of the involved bones, including bony fusions and limblength inequalities, are possible but rare. Pdf a probable case of infantile cortical hyperostosis in. This malady has an abrupt onset and runs the initial part of its course during the first few months of infancy. Severe thrombocytosis as initial manifestation of caffey disease in a 4 month old infant. Sporadic cases of infantile cortical hyperostosis not associated with pge1. Infantile cortical hyperostosis caffeys disease, which is characterized by development of softtissue swelling. Sep 01, 2000 a new calvarial hyperostotic syndrome chs in young bullmastiffs is described. How many children remain fracture free during growth.
Smyth, potter and silverman 2 were among the early workers to add to the rapidly growing number of cases. Infantile cortical hyperostosis caffey disease is characterized by. Calvarial hyperostotic syndrome clinically resembles canine craniomandibular osteopathy cmo and human infantile cortical hyperostosis ich, but it is unique in that there is progressive and often asymmetric skull bone involvement, and the population affected appears to be only young, male bullmastiff dogs. Two patients from a family in nauru with infantile corical hyperostosis are presented. It is inherited as autosomal dominance with incomplete penetrance and variable expression.
New insights show that this selflimited condition is collagen irelated. Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. First reported by caffey and silverman in 1945, the exact aetiology of caffey disease or infantile cortical hyperostosis is still unknown. Several cases of the syndrome of infantile cortical hyperostosis have been reported since caffey and silverman 1 first described this heretofore unknown disease of infants. Full text full text is available as a scanned copy of the original print version. Face swelling in infants may have several causes including infantile cortical hyperostosis caffey disease, an inflammatory process with swelling of soft tissues. Pdf a probable case of infantile cortical hyperostosis. In the year 1945 caffey and silverman 1 first described a new syndrome which they called infantile cortical hyperostosis. Infantile cortical hyperostosis jama pediatrics jama network.
Infantile cortical hyperostosis is a selflimited condition, meaning that the disease resolves on its own without treatment, usually within 69 months. View pdf download citation information send a letter share this. The data suggest that an autosomal dominant gene with varying expressivity could be. Ross and burke 3 suggested the name caffeysmyth for this new syndrome. Infantile cortical hyperostosis and col1a1 mutation in four. An onset in early infancy, irritability, softtissue swelling, and cortical hyperostosis were the characteristic features of the disease. All royalty free licenses include global use rights, comprehensive protection, simple pricing with volume discounts available. Roentgenographic studies, initiated by roske 1930 1 and augmented by many others, including caffey 1939. Infantile cortical hyperostosis caffey disease hkmj. Prenatal cortical hyperostosis caffey disease with down syndrome. Regarding scurvy, the cortical thickening occurs during the healing process of subperiosteal hematomas, which requires months of evolution and was unlikely in this patient. Infantile cortical hyperostosis and col1a1 mutation in. Ideal sources for wikipedia s health content are defined in the guideline wikipedia. Hyperostosis associated with meningioma has not been shown to correlate with either tumor size or grade, and although it may be tempting to ascribe it to nonneoplastic reactive bony changes, in some cases the hyperostotic bone has been shown to contain tumor cells.
Ich is a disorder affecting the skeletal system of infants. Pdf pcaffeys disease is a rare, self limiting condition of infancy. A case of infantile cortical hyperostosis in a 4monthold child is reported, with involvement of the mandible and left ulna. The disease is characterized by regressive subperiosteal hyperosteogenesis mainly affecting long bones, mandible, clavicles, and ribs which are remarkably swollen and deformed on xrays. A clinical diagnosis of infantile cortical hyperostosis was made. Since that time the disease has been widely recognized, with. Kamoungoldrat a, le merrer m j oral maxillofac surg, 6610. Get a printable copy pdf file of the complete article 1. A case of infantile cortical hyperostosis postgrad med j. The bone involvement is usually asymmetrical and include predominantly mandible, ribs, clavicle and long bones like tibia, ulna, and femur. Unilateral infantile cortical hyperostosis springerlink.
A novel col1a1 mutation in infantile cortical hyperostosis caffey disease expands the spectrum of collagenrelated disorders. Infantile cortical hyperostosis was first described and named by caffey and silverman in 1945. Diagnosis can be made through clinical evaluation and xray studies. Swelling of the face and mandibular bone changes are of concern to. Infantile cortical hyperostosis commonly resolves on its own without. Pdf infantile cortical hyperostosis of the mandible. Infantile cortical hyperostosis caffeysilverman disease is a familial disorder manifesting in the late fetal period or infancy with excessive periosteal bone formation. Infantile cortical hyperostosis pubmed central pmc. The disease may be present at birth or occur shortly thereafter.
We present the clinical, ultrasonic, radiographic, and pathologic findings in an instructive case of early onset prenatal cortical hyperostosis. Xray of an 11 month old infant suffering from infantile cortical hyperostosis caffeys disease purchaselicenselabel. Pdf infantile cortical hyperostosis of the mandible researchgate. Radiological aspects of prenatalonset cortical hyperostosis. Infantile cortical hyperostosis was first described and named in 1945 by caffey and silverman 1. Find premium, highresolution stock photography at getty images. Caffey disease or infantile cortical hyperostosis is a heterogeneous. Two forms of the disease have been described, a classical mild infantile form ich and a severe fatal form with prenatal onset. A pedigree is presented, based on the history and clinical and radiological investigations of all living members of the family, with data from 11 cases with the condition in two generations, and one possible case from a third generation. One case, that of a negro twin, had an apparent recovery within four weeks. The final diagnosis of infantile cortical hyperostosis was clinched based on the clinicopathological correlation. We report a case of caffey disease highlighting its presentation as pyrexia of unknown origin, appearance on radionuclide bone scintigraphy and our unsatisfactory experience of. Infantile cortical hyperostosis oral surgery, oral medicine, oral. Infantile cortical hyperostosis is not a rare entity and should be suspected in every infant with fever, leukocytosis, hyperirritability, and swelling of the soft tissues.
Pdf severe thrombocytosis as initial manifestation of. Easyaccess downloads let you quickly download hires, nonwatermarked images. The classic form most commonly presents in infants within first six months of life. Eleven new cases of infantile cortical hyperostosis are reported.
Infantile cortical hyperostosis jama pediatrics jama. Here are links to possibly useful sources of information about infantile cortical hyperostosis. Cho tj, moon hj, cho dy, park ms, lee dy, yoo wj, et al. Infantile cortical hypersotosis is a rare disease that affects children during the first six months of life, and is characterized by new periosteal bone formation. Also named caffey disease, infantile cortical hyperostosis is a rare disease that usually affects children of a few weeks of age.
Signs and symptoms regress spontaneously within months and result in expanded, deformed bones. We report a case that affected the left mandible in a 3monthold boy treated with indometacin. Infantile cortical hyperostosis caffey disease is characterized by spontaneous episodes of subperiosteal new. Links to pubmed are also available for selected references. Cortical hyperostosis is a bone disease that may, at times, occur with a prenatal onset. Abstract infantile cortical hyperostosis ich, omim 114000 is a rare familial disorder which affects infants. The genetic aspects of infantile cortical hyperostosis are discussed. Infantile cortical hyperostosis or caffey disease is a genetic disorder, with autosomal dominant inheritance in its usual form, with incomplete penetrance. Infantile cortical hyperostosis caffey disease is characterized by radiological evidence of cortical hyperostosis, soft tissue swellings, fever and irritability. Infantile cortical hyperostosis of the mandible sciencedirect.
Infantile cortical hyperostosis ich is an inherited disorder characterized by hyperirritability, acute inflammation of soft tissues, and massive subperiosteal formation of the underlying bones typically involving the diaphyses of the long bones, mandible, clavicles, or ribs. Since that time the disease has been widely recognized, with over 100 cases described in the literature and many more undoubtedly unreported 2, 4, 69. However, the severe and lethal form of the disease appears to be inherited as an autosomal recessive. Infantile cortical hyperostosis or caffeys disease classically presents in infants less than 5 months of age, though has also been reported to occur in utero. This study seeks to present the characteristic patterns of prenatalonset cortical hyperostosis pch with regard to the radiographic features, and tries to ascertain whether pch is a separate entity from infantile cortical hyperostosis ich. At about the same time smyth, potter, and silverman 2 reported independently a group of cases with similar changes under the title of periosteal reaction, fever and irritability in young infants. Pdf caffeys disease infantile cortical hyperostosis. Smyth, potter and silverman2 were among the early workers to add to the rapidly growing number of cases. Receive free email alerts when new articles cite this article. Face swelling in infants may have several causes including infantile cortical hyperostosis caffey disease, an inflammatory process with swelling of soft tissues and periosteal hyperostosis of some bones. Bilateral scapular involvement was found in two cases. Authors pierre navarre 1, ivaylo pehlivanov, benoit morin.
We describe a sporadic case of lethal prenatal onset infantile cortical. Lethal prenatal onset infantile cortical hyperostosis caffey disease. The purpose of our study was to investigate clinical manifestations, roentgen images, histopathological studies, and evolution of the disease in patient displaying infantile cortical hyperostosis. Pdf infantile cortical hypersotosis is a rare disease that affects children during the first six months of. These were followed with reports by whipple, 3 dickson and his associates, 4 shuman 5 and gipson and clark 6 and from. Infantile cortical hyperostosis ich, also known as caffey disease, caffey silverman syndrome, or smyth syndrome, is a genetic disorder. In hypervitaminosis a, the cortical hyperostosis appears after months or years of excessive ingestion.
Pdf objective this study aims to discuss the differential diagnosis for the pathological alterations displayed on an infant skeleton from. The clinical picture is that of irritability, soft tissue swelling at various sites mandible, clavicle, limbs with local warmth, and pain on palpation. Citation on pubmed or free article on pubmed central. Infantile cortical hyperostosis radiology rsna publications online. Infantile cortical hyperostosis is a selflimited inflammatory disorder of infants that causes bone changes, soft tissue swelling and irritability. These reports stimulated a great deal of interest in the disease, and by 1952 there were over 100 case reports in the literature. Roentgenograms were made to evaluate a neonatal patient presenting multiple softtissue swellings. Caffey, 1945 is a bizarre disorder affecting the skeleton and the contiguous fascia and muscle of infants, usually before t.
Oral indomethacin for symptom control was suggested, but the parents declined. Prenatal cortical hyperostosis with col1a1 gene mutation. T wo eases of infantile cortical hyperostosis are presented be cause of the relative newness and in frequency of this condition. Infantile cortical hyperostosis is a selflimiting inflammatory disorder of infants with a triad of soft tissue swelling, bone lesions on xray and irritability. Infantile cortical hyperostosis caffey disease is benign and selflimiting when it presents near or after birth but it is usually lethal when it presents earlier. Finally, infantile cortical hyperostosis is the diagnosis. Infantile cortical hyperostosis caffey disease workup. Several cases of the syndrome of infantile cortical hyperostosis have been reported since caffey and silverman1 first described this heretofore unknown disease of infants. Mar 03, 2021 infantile cortical hyperostosis ich, also known as caffey disease, was first reported by roske in 1930 and described by caffey and silverman in 1945. Infantile cortical hyperostosis ich also termed as caffeys disease or caffey silverman syndrome, is a rare clinicopathological condition of uncertain aetiology and histogenesis.
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