It causes bone changes, softtissue swelling, and irritability. Abortion in two foals associated with nocardia infection. Infantile cortical hyperostosis in rhesus monkeys macaca mulatta is encountered as a congenital enlargement of the diaphyses of long bone. Genetically, ich was linked with heterozygosity for. Enlargements, or hyperostoses, are typically hard, bilaterally symmetric and widest at the middiaphysis fig. Pdf infantile cortical hypersotosis is a rare disease that affects children during the first six months of life, and is characterized by new. The initial radiographs insinuated that the disease had been present for some time. Infantile cortical hyperostosis caffeys disease infantile cortical hyperostosis ich is a disease of infants having an autosomal dominant trait with incomplete penetration. Volume 11 infantile cortical hyperostosis h numbtr l discussion infantile cortical hyperostosis is an obscure, selflimited bone disease of infants characterized by sudden softtissue swelling, hyperirritability, fever, leukocytosis, and anemia, followed by roentgcnographic evidence of periosteal new bone formation. Frontal internal hyperostosis definition of frontal. Pathology of infantile cortical hyperostosis caffeys disea.
The condition may affect virtually any bone and causes excessive enlargement of part of the bone cortex. It rarely if ever appears after 5 months of age and usually resolves spontaneously by 2 years of age. Infantile cortical hyperostosis pediatric oncall journal. Infantile cortical hyperostosis ich, or caffeys disease, first reported by caffey and silverman in 1945, is a benign condition characterized radiographically by corticoperiosteal thickening of bone with subperiosteal new bone formation. Within a few days there was obvious wasting of the muscles of the proximal parts of all limbs, and the jaws became strikingly thickened. An onset in early infancy, irritability, softtissue s. 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. Excessive new bone formation hyperostosis is characteristic of caffey disease. Infantile cortical hyperostosis caf feys disease is characterized by local ized enlargement of various bones, most commonly the mandible and clay ides, but also the ealvarium, ribs, scapuas, metatarsals, and long bones of the extremities, due to a hyper plasia of subperiosteal bone2 the on set of the condition is from birth to 6 months.
Roentgenograms were made to evaluate a neonatal patient presenting multiple softtissue swellings. Infantile cortical hyperostosis, rhesus monkey springerlink. The genetic aspects of infantile cortical hyperostosis are discussed. The condition is selflimiting and regresses on its own within a period of few weeks to months and often goes unnoticed if present in a particularly. Infantile cortical hyperostosis caffey silverman syndrome. Infantile cortical hyperostosis caffeysilverman syndrome.
Hyperostosis cortical infantile symptoms, diagnosis. Calvarial hyperostosis syndrome in a young weimaraner dog. Infantile cortical hyperostosis an inquiry into the. It constitutes a triad of irritability, soft tissue swelling and cortical thickening of underlying bone with no sex or race predilection. Sites of occurrence vary, with the mandible being involved in 75%80% of cases. A rare inflammatory disorder that affects bones and soft tissue in infants.
The bone marrow spaces contain vascular fibrous tissue. Pdf file of the complete article 880k, or click on a page image below to browse page by page. Browse the gard list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names.
Infantile cortical hyperostosis definition of infantile. What links here related changes upload file special pages permanent link page. Autosomal dominant inheritance with incomplete penetrance of caffey disease infantile cortical hyperostosis. It is characterized by the excessive formation of new bone hyperostosis in the jaw, shoulder blades, collarbones, and shafts of long bones in the arms and legs. Clinically this disease is manifested by onset in the early part of the first year of life, irritability and fever, tenderness and swelling of the face and jaws, scapula, or extremities. Caffey disease is a bone disorder that most often occurs in babies.
Caffeys disease has been accepted as the common name for this disorder. Infantile cortical hyperostosis, caffeys disease, involving two. In some cases, two bones that are next to each other may become fused. Infantile cortical hyperostosis ichcaffey disease is an inflammatory collagenopathy of infancy, manifested by subperiosteal bone hyperplasia. Sincethen,10newcaseshaveoccurred inthisfamilyresulting inatotal of21cases. Most commonly mandible, clavicle and ulna are affected leading to inflammation. The data suggest that an autosomal dominant gene with varying expressivity could be. Two cases of infantile cortical hyperostosis are presented in the hope of eliciting word of increased incidence seen by others. Infantile cortical hyperostosis is an unusual disease of an unknown etiology. Infantile cortical hyperostosis is a selflimited inflammatory disorder of infants that causes bone. Infantile cortical hyperostosis report of seventeen cases glen g. Infantile cortical hyperostosis, fever, pain, tenderness, hyperaesthesia, soft tissue swelling, redness. The bone abnormalities mainly affect the jawbone, shoulder blades scapulae, collarbones clavicles, and the shafts diaphyses of long bones in the arms and legs.
Infantile cortical hyperostosis or caffeys disease was first described by caffey and silvermann in 1945. The disease may be present at birth or occur shortly thereafter. Pdf infantile cortical hyperostosis of the mandible. Infantile cortical hyperostosis or caffeys disease classically presents in infants less than 5 months of age, though has also been reported to occur in. On some late skeletal changes in chronic infantile cortical hyperostosis. Pdf pcaffeys disease is a rare, self limiting condition of infancy. Get a printable copy pdf file of the complete article 1. 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. Infantile cortical hyperostosis is a self limiting inflammatory disorder of infants with triad of soft tissue swelling, bone lesions on xrays and irritability. Finally, infantile cortical hyperostosis is the diagnosis with the most difficult differentiation from prostaglandininduced hyperostosis. The initial symptom of the classical ich is usually irritability, fever and soft tissue swelling affecting one or more bones. Pdf infantile cortical hyperostosis of the mandible researchgate. Consultant physician, fermanagh countyhospital, enniskillen infantile cortical hyperostosis wasfirst described by caffey in 1945. Clinical manifestations in a neonatal patient displaying infantile cortical hyperostosis have gradually decreased.
The syndrome that has become known as infantile cortical hyperostosis, after the suggestion of caffey and silverman, 1 is characterized by the usually sudden onset of swelling of the face, thorax. If you have problems viewing pdf files, download the latest version of adobe reader. Snook, new england regional primate research center, one pine hill drive, southborough, ma 0 1772 usa. In 1945, caffey first described infantile cortical hyperostosis caffey disease, as shown in the image below, a selflimited disorder that affects infants and causes bone changes, softtissue swelling, and irritability. Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. Infantile cortical hyperostosis is a selflimited inflammatory disorder of infants that causes bone changes, soft tissue swelling and irritability. Thank you for your interest in spreading the word about the bmj. Cortical hyperostosis secondary to prolonged use of. Infantile cortical hyperostosis is a disease characterized by a triad of systemic symptoms, including irritability and fever, soft tissue swelling, and underlying cortical bone thickening kutty. A genomewide screen for genetic linkage in a large family with an autosomal dominant form of caffey disease adc revealed a locus on chromosome 17q21. Caffey disease or infantile cortical hyperostosis ich is a rare and mostly self limiting condition affecting young infants. Infantile cortical hyperostosis was first described and named in 1945 by caffey and silverman 1.
We report a 1monthold chinese boy with caffey disease who presented with. It is the purpose of this paper to report these cases, to com ment on the diseases commonly confused with infantile cortical hyperostosis, and to encourage a high index of suspicionfor this disease during the first 6 months of infancy. Infantile cortical hyperostosis archives of disease in. Pathology of infantile cortical hyperostosis caffeys disease. Find out information about hyperostosis cortical infantile. Infantile cortical hyperostosis caffey disease differential. 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. Hyperostosis cortical infantile article about hyperostosis. Browse az genetic and rare diseases information center. Infantile cortical hyperostosis ich also referred to as caffey or caffeysilverman disease was recognized in 1945 by caffey and silverman. It occurs in many musculoskeletal disorders see also.
It is also known as caffeys disease or caffeysilverman disease after the persons who discovered it. All structured data from the file and property namespaces is available under the creative commons cc0 license. The lesions of chs are initially painful, but selflimiting with skeletal maturity. Infantile cortical hyperostosis is characterised by an infantile episode of subperiosteal new bone formation. It is characterized by cortical hyperostosis of certain bones associated with painful soft tissue swelling over the affected structures. An onset in early infancy, irritability, softtissue swelling, and cortical hyperostosis were the characteristic features of the disease. Metrics links files go to a rare case of lethal prenatalonset infantile cortical hyperostosis.
Infantile cortical hyperostosis europe pmc article. In recent years, and particularly since the report of caffey and silverman in 1945, attention has been directed to what appears to be a new clinical entity found in infants. May 09, 2018 in 1945, caffey first described infantile cortical hyperostosis caffey disease, as shown in the image below, a selflimited disorder that affects infants and causes bone changes, softtissue swelling, and irritability. We report one of a pair of twins, who presented as puo, was diagnosed to have ich on a radionuclide bone scintigram and did not improve on treatment with ibuprofen. The roentgen finding in young infants of cortical subperiosteal new bone formation, commonly involving the mandible, usually associated with an extremelyvariable course of fever, swelling,and irritabilitywas identified as a new syndrome almost simultane. Infantile cortical hyperostosis see caffey disease. The affected infants present with a classic triad of hyperirritability, soft tissue swelling, and palpable hard masses over multiple and often symmetric bones. The disease has been called infantile cortical hyperostosis, or caffeys disease. Infantile cortical hyperostosis is a disease of presently unknown etiology which occurs in early infancy. As this resolves, the periosteum remains thickened, and subperiosteal immature lamellar bone is noted.
It is distinct from physiological periostitis which can be seen involvin. Infantile cortical hyperostosis or caffeys disease on pediatric oncall. Observations on the etiology and therapy of infantile cortical hyperostosis. Theincidence ofinfantilecortical hyperostosis inthisfamilyisascommon. It is distinct from physiological periostitis which can be seen involving the diaphyses of the tibiae, humeri, and femora at the same age a rare variant known as pre natal onset cortical hyperostosis is severe and fatal.
Links to pubmed are also available for selected references. The bone affection is usually asymmetrical and include predominantly mandible, ribs, clavicle and long bones like tibia, ulna, and femur. Files are available under licenses specified on their description page. A condition occurring during the first 3 months of life in which there is fever and painful swelling of the soft tissue of the lower jaw, characterized by. Infant feeding problems may occur if the jaw bone is affected which can affect weight gain. Introduction caffey disease or infantile cortical hyperostosis ich is a rare and mostly self limiting condition affecting young icaffey disease or infantile cortical hyperostosis ich is a rare and mostly self limiting condition affecting young infants. Infantile cortical hyperostosis ich, also known as caffeys disease, is a benign selflimiting condition affecting young infants. This report highlights that infantile cortical hyperostosis is an important differential diagnosis for children suspected of being abused, and clinicians should have a high index of suspicion to. A case of infantile cortical hyperostosis by patrick j. Fetuina deficiency is associated with infantile cortical. Caffey disease genetic and rare diseases information. We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail.
Since that time, 24 cases have been recorded in the literature. Calvarial hyperostosis syndrome chs is a rare, nonneoplastic, proliferative bone disease of the flat bones of the skull. On radiological exams, the cortical hyperostosis is always present, associated or. Though the disease has been frequently recorded in the u. Infantile cortical hyperostosis ich, also called caffey disease, occasionally presents as pyrexia of unknown origin puo. Pdf caffeys disease infantile cortical hyperostosis. Infantile cortical hyperostosis is a rare proliferative bone disease affecting infants under the age of 6 monthsl it was first reported in europe in 19302 it usually develops soon after birth, where affected infants present with irrita bility associated with swelling and tenderness of the long. The condition, later shown to be transmitted as an autosomal dominant trait with incomplete penetrance, becomes clinically evident before 57 months of life, and the average age at onset is around 9 weeks. A rare case of lethal prenatalonset infantile cortical. Caffey disease or infantile cortical hyperostosis is a largely selflimiting disorder which affects infants. Infantile cortical hyperostosis is an inflammatory process that leads to cortical thickening of the bones and swelling of the surrounding soft tissues. Find out information about hyperostosis, cortical, congenital. May 09, 2018 infantile cortical hyperostosis is an inflammatory process of unclear etiology. Regarding scurvy, the cortical thickening occurs during the healing process of subperiosteal hematomas, which requires months of evolution and was unlikely in this patient.
In the early stages of this condition, inflammation of the periosteum and adjacent soft tissues is observed. Infantile cortical hyperostosis has somewhat unusual features for a hereditary disorder. Infantile cortical hyperostosis caffey disease is characterized by spontaneous episodes of subperiosteal new bone formation along 1 or more bones commencing within the first 5 months of life. The initial radiographs insinuated that the disease had been present for some. Xrays demonstrated the typical lesions of infantile cortical hyperostosis fig. Infantile cortical hyperostosis caffey disease is a rare selflimiting inflammatory bony disease of early infancy. Full text full text is available as a scanned copy of the original print version. Infantile cortical hyperostosis of the ribs caffeys disease. Infantile cortical hyperostosis caffey disease clinical. Infantile cortical hyperostosis ich is characterized by spontaneous episodes of subperiosteal new bone formation in the long bones, mandible, and clavicle during infancy.
Undoubtedly, many cases go unrecognized, since two of. Infantile cortical hyperostosis caffey disease is characterized by radiological evidence of cortical hyperostosis, soft tissue swellings, fever and. Caffey disease genetic and rare diseases information center. The syndrome of infantile cortical hyperostoses was defined and first reported by caffey and silverman 1 in july 1945. It is distinct from physiological periostitis which can be seen involving the diaphyses of the tibiae, humeri, and femora at the same age. The bone abnormalities mainly affect the jawbone, shoulder blades scapulae, collarbones clavicles, and the shafts diaphyses of long bones in the. Tampas1 in1961,theseniorauthorreported i1members ofonefamilywithinfantile cortical hyperostosis. Radiographs showed diffuse periosteal reaction and subperiosteal bone formation of the mandible, right clavicle, femora, tibiae. Although the etiology of this condition is not completely understood, familial and sporadic forms appear to exist. We report a 1monthold chinese boy with caffey disease who presented with painful swelling over his shins bilaterally. Apr 15, 2014 caffey disease is a bone disorder that most often occurs in babies. Infantile corti cal hyperostosis commonly resolves on its own without treat ment, usually within 6 months to first year of life. It is also known as caffey disease or caffeys disease. Infantile cortical hyperostosis pubmed central pmc.
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