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 was first described and named by caffey and silverman in 1945. Consultant physician, fermanagh countyhospital, enniskillen infantile cortical hyperostosis wasfirst described by caffey in 1945. It is characterized by acute inflammation of the periostium and the overlying soft tissue and is accompanied by. Infantile cortical hyperostosis secondary to prostaglandin therapy. The data suggest that an autosomal dominant gene with varying. Infantile cortical hyperostosis and giant cell hepatitis. It is usually present in the first six months of life with fever, bony swellings due to cortical thickening, high erythrocyte sedimentation rate esr, thrombocytosis, and mild elevation of alkaline phosphatase. Infantile cortical hyperostosis europe pmc article. Pathology ofinfantile cortical hyperostosis caffeys disease. Infantile cortical hyperostosis in rhesus monkeys macaca mulatta is encountered as a congenital enlargement of the diaphyses of long bone. Hyperostosis of the skull has many causes, broadly divided into focal or diffuse. Infantile cortical hyperostosis ich, also known as caffeys disease, is a benign selflimiting condition affecting young infants. Infantile cortical hyperostosis is a selflimited inflammatory disorder of infants that causes bone changes, soft tissue swelling and irritability.
Longterm deformities of the involved bones, including bony fusions and limblength inequalities, are possible but rare. Since that time the condition has been recognized in infants of manyraces. Cifuentes, md1 1departments of pediatrics, hennepin county medical center and. This malady has an abrupt onset and runs the initial part of its course during the first few months of infancy. Prenatal onset infantile cortical hyperostosis radiology. Get a printable copy pdf file of the complete article 1009k, or click on a page image below to browse page by page. Links to pubmed are also available for selected references.
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. Infantile cortical hyperostosis is usually a benign disease in which the clinical manifestations subside after a few weeks and the skeletal changes, demonstrated roentgenographically, disappear within a few months caffey. A s suggested by caffey 2 and by esmyth, 3 the recently described, newly recognized syndrome of infantile cortical hyperostosis is probably not as uncommon as is indicated by the few reported cases. Hyperostosis frontalis interna radiology reference article. Though the disease has been frequently recorded in the u. Find out information about hyperostosis cortical infantile. Polyostotic cortical hyperostosis was diagnosed based on diagnostic imaging and histopathological changes of the mandible and limbs. The condition is generally of no clinical significance and an incidental finding.
Caffey and silverman 1945 described a clinical syndrome to which they gave the name infantile cortical hyperostosis. The disease was demonstrated radiographically by massive cortical diaphyseal thickening and also extensive periosteal new bone formation. The most common presentation is that of an irritable child. Segregation analysis of these 6 cases, in addition to another the authors report, support. All structured data from the file and property namespaces is available under the creative commons cc0 license. Infantile cortical hyperostosis archives of disease in. An onset in early infancy, irritability, softtissue swelling, and cortical hyperostosis were the characteristic features of the disease. Infantile cortical hyperostosis a report of saudi family. On some late skeletal changes in chronic infantile. Find out information about hyperostosis, cortical, congenital.
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. Infantile cortical hyperostosis is a selflimited condition, meaning that the disease resolves on its own without treatment, usually within 69 months. Birth order and maternal age for reported cases of severe prenatal cortical hyperostosis caffeysilverman disease rolf r. A rare inflammatory disorder that affects bones and soft tissue 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. 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 symptom of the classical ich is usually irritability, fever and soft tissue swelling affecting one or more bones. 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. Case report hyperostosis of the frontal, temporal, and. However, such hyperostosis of the temporal andor sphenoid bone is rarely discussed in the available literature, especially in the absence of meningioma. Generalized cortical hyperostosis van buchem disease. The lesions of chs are initially painful, but selflimiting with skeletal maturity.
Infantile cortical hyperostosis caffey disease treatment. Unilateral infantile cortical hyperostosis springerlink. Caffey disease or infantile cortical hyperostosis ich is a rare and mostly self limiting condition affecting young infants. The disease may be present at birth or occur shortly thereafter. Roentgenographic studies, initiated by roske 1930 1 and augmented by many others, including caffey 1939. Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies.
It is characterized by cortical hyperostosis of certain bones associated with painful soft tissue swelling over the affected structures. A fourmonthold infant was treated for dysphagia associated with infantile cortical hyperostosis caffeys disease. Diffuse paget disease of bone metastatic disease, especially prostate carcinoma chronic, severe anemia hyperparathyroidism acromegaly osteopetrosis hyperost. 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. 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.
Cortical hyperostosis secondary to prolonged use of. Infantile cortical hyperostosis caffey disease is characterized by radiological evidence of cortical hyperostosis, soft tissue swellings, fever and irritability. Six of 41 presumed cases of van buchem disease described in the literature fit uniform diagnostic criteria. Full text full text is available as a scanned copy of the original print version. Caffeys disease, infantile cortical hyperostosis, physiotherapy. Infantile cortical hyperostosis ich is characterized by spontaneous episodes of subperiosteal new bone formation in the long bones, mandible, and clavicle during infancy. Infantile cortical hyperostosis ich is a benign self limiting disease appearing in early infancy. 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. This report represents a19 yearfollowup ofthisfamily which hasresulted inidentification of10newfamily members withthedisorder fig. The condition may affect virtually any bone and causes excessive enlargement of part of the bone cortex. Generalized cortical hyperostosis definition of generalized. Although the etiology of this condition is not completely understood, familial and sporadic forms appear to exist. Infantile cortical hyperostosis is a disease characterized by a triad of systemic symptoms, including irritability and fever, soft tissue swelling, and underlying cortical.
Infantile cortical hyperostosis caffey disease, typically presents between the ages of 6 weeks and 6 months with irritability, swelling, and multiple bone lesions, commonly including mandibular involvement. Files are available under licenses specified on their description page. Anna letko, fabienne leuthard, vidhya jagannathan, daniele corlazzoli, kaspar matiasek, daniela schweizer, marjo k. 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. Get a printable copy pdf file of the complete article 1. The initial radiographs insinuated that the disease had been. 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. Excessive new bone formation hyperostosis is characteristic of caffey disease. Mar 01, 2016 hyperostosis corticalis generalisata, also known as van buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Infantile cortical hyperostosis, rhesus monkey springerlink. Delayed infantile cortical hyperostosis caffeys disease. Enlargements, or hyperostoses, are typically hard, bilaterally symmetric and widest at the middiaphysis fig. Infantile cortical hyperostosis or caffeys disease on pediatric oncall. Birth order and maternal age for reported cases of severe.
Finally, infantile cortical hyperostosis is the diagnosis with the most difficult differentiation from prostaglandininduced hyperostosis. A case of infantile cortical hyperostosis or caffeys disease diagnosed in a infant girl of 5 month is reported. 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. 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.
Accepted for publication 10 april 1995 infantile cortical hyperostosis, also known as caffeys disease or caffeysil verman syndrome, is an uncommon condition of unknown cause and uncer tain pathogenesis9. Hyperostosis cortical infantile symptoms, diagnosis. We report a case of hyperostosis of the frontal, temporal, and sphenoid bones. A rare case of lethal prenatalonset infantile cortical. Infantile cortical hyperostosis was first described and named in 1945 by caffey and silverman 1. 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. Pathology both sporadic and autosomal recessive inheritance ha. Hyperostosis of the internal table of the frontal bone is not an uncommon phenomenon. Calvarial hyperostosis syndrome chs is a rare, nonneoplastic, proliferative bone disease of the flat bones of the skull. Undoubtedly, many cases go unrecognized, since two of.
May 09, 2018 infantile cortical hyperostosis is an inflammatory process of unclear etiology. The mother was healthy throughout this firstpregnancy. 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. Prolonged nutritional support was by nasal or gastrostoma intubation. A case of infantile cortical hyperostosis by patrick j. Pdf infantile cortical hyperostosis of the mandible. 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. The clinical picture was characterized by a non tender swelling of the left side of. It rarely if ever appears after 5 months of age and usually resolves spontaneously by 2 years of age. The bone marrow spaces contain vascular fibrous tissue. In the early stages of this condition, inflammation of the periosteum and adjacent soft tissues is observed. Hyperostosis corticalis generalisata genetic and rare. Infantile cortical hyperostosis an inquiry into the. 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.
Infantile cortical hyperostosis is a self limiting inflammatory disorder of infants with triad of soft tissue swelling, bone lesions on xrays and irritability. Whole genome sequencing indicates heterogeneity of. It is inherited as autosomal dominance with incomplete penetrance and variable expression. The genetic aspects of infantile cortical hyperostosis are discussed. Infantile cortical hyperostosis also known as caffey disease is characterized by hyperirritability, acute inflammation of soft tissues, and profound alterations of the shape and structure of the. Genetically, ich was linked with heterozygosity for. Infantile cortical hyperostosis, fever, pain, tenderness, hyperaesthesia, soft tissue swelling, redness. As this resolves, the periosteum remains thickened, and subperiosteal immature lamellar bone is noted. Infantile cortical hyperostosis is a rare disease, and a diagnosis should be made to avoid invasive procedures. Calvarial hyperostosis syndrome in a young weimaraner dog. The mother hadbeen taking tavor lorazepam andvalium diazepam until shebecame aware ofthepregnancy.
Infantile cortical hyperostosis pediatric oncall journal. We report a case that affected the left mandible in a 3monthold boy treated with indometacin. Treported thepresence infantile cortical hyperostosis in11members ofonefamily1,2. The bone abnormalities mainly affect the jawbone, shoulder blades scapulae, collarbones clavicles, and the shafts diaphyses of long bones in the. Hyperostosis definition of hyperostosis by the free dictionary. Infantile cortical hyperostosis is an unusual disease of an unknown etiology. Infantile cortical hyperostosis has somewhat unusual features for a hereditary disorder. 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. Infantile cortical hyperostosis caffey disease pediatric. Infantile cortical hyperostosis secondary to prostaglandin. It is also known as caffeys disease or caffeysilverman disease after the persons who discovered it. Caffey disease or infantile cortical hyperostosis is a largely selflimiting disorder which affects infants. 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. 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.
These reports stimulated a great deal of interest in the disease, and by 1952 there were over 100 case reports in the literature. It causes bone changes, softtissue swelling, and irritability. Roentgenograms were made to evaluate a neonatal patient presenting multiple softtissue swellings. The initial radiographs insinuated that the disease had been present for some time. Infantile cortical hyperostosis ichcaffey disease is an inflammatory collagenopathy of infancy, manifested by subperiosteal bone hyperplasia. Hyperostosis frontalis interna is characterized by benign overgrowth of the inner table of the frontal bone. The bone affection is usually asymmetrical and include predominantly mandible, ribs, clavicle and long bones like tibia, ulna, and femur. Dysphagia in infantile cortical hyperostosis caffey s. Fetuina deficiency is associated with infantile cortical. Infantile cortical hyperostosis is a disease of presently unknown etiology which occurs in early infancy. Infantile cortical hyperostosis pubmed central pmc. Infantile cortical hyperostosis is an inflammatory process that leads to cortical thickening of the bones and swelling of the surrounding soft tissues.
Infantile cortical hyperostosis or caffey disease is a genetic disorder, with autosomal dominant inheritance in its usual form, with incomplete penetrance. Hyperostosis corticalis generalisata, or van buchem disease, is a recessively inherited variety of endosteal hyperostosis, characterized by progressive mandibular enlargement from childhood, and in adult life by signs and symptoms resulting from sclerotic encroachment of optic and acoustic foramina. Infantile cortical hyperostosis caffey disease is a benign multifocal proliferative bone disease with new bone formation with pronounced cortical thickening. Caffeys disease also known as infantile cortical hyperostosis is rare and self limiting condition. Hyperostosis cortical infantile article about hyperostosis. 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. Information and translations of hyperostosis, cortical, congenital in the most comprehensive dictionary definitions resource on the web. On radiological exams, the cortical hyperostosis is always present, associated or. Infantile cortical hyperostosis with unusual clinical manifestations. In the year 1945 caffey and silverman 1 first described a new syndrome which they called infantile cortical hyperostosis.
1090 1180 191 1084 405 44 1426 363 1020 1496 1576 1403 509 1303 568 1062 249 1231 1328 974 83 917 738 911 27 29 1071 1376 350 364 769