Infantile cortical hyperostosis pubmed central pmc. Download fulltext pdf infantile cortical hyperostosis article pdf available in archives of disease in childhood 907. Infantile cortical hyperostosis pediatric oncall journal. Pmc free article eversole sl, jr, holman gh, robinson ra. Infantile cortical hyperostosis caffey disease is a rare selflimiting inflammatory bony disease of early infancy. Sidbury and sidbury10 noted 10 cases in four years of privatepracticeand commented that the disease is commoner than is gen erally appreciated. 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. Although the etiology of this condition is not completely understood, familial and sporadic forms appear to exist. Pdf infantile cortical hyperostosis of the mandible. Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. Infantile cortical hyperostosis ich, omim 114000 is a rare familial disorder which affects infants. Infantile cortical hyperostosis with intramedullary lesions. Infantile cortical hyperostosis, rhesus monkey springerlink.
Sites of occurrence vary, with the mandible being involved in 75%80% of cases. Since then, 10 new cases have occurred in this family resulting in a total of 21 cases. We report a 1monthold chinese boy with caffey disease who presented with painful swelling over his shins bilaterally. The age limitation is most striking, the average age of onset being9 weeks. Sherman and hellyer 4 postulated that obliteration of the small arteries in the region of the bony lesions causes hypoxia and that the hyperostosis and softtissue swelling of infantile cortical hyperostosis are secondary to this, the primary change being an intimal proliferation in the small arteries in those areas. Hyperostosis cortical infantile symptoms, diagnosis. They suggested that it is either a new disease or an old disease of greatly increased incidence. A case report of an infant with the clinical, radiological, and histological presentations of infantile cortical hyperostosis is presented. Infantile cortical hyperostosis, fever, pain, tenderness, hyperaesthesia, soft tissue swelling. The bone marrow spaces contain vascular fibrous tissue.
Pdf infantile cortical hyperostosis of the mandible researchgate. Hyperostosis frontalis interna affects females 9 times more often than males. The initial radiographs insinuated that the disease had been present. Department of radiology, hospital for children, great ormond street, wc1n 3jh london, uk. Find out information about hyperostosis cortical infantile. Stress fracture fibrous dysplasia monostotic polyostotic skeletal fluorosis bone cyst aneurysmal bone cyst hyperostosis infantile cortical hyperostosis osteosclerosis melorheostosis pycnodysostosis. Hyperostosis cortical infantile article about hyperostosis. Infantile cortical hyperostosis manifesting as congenital unilateral. Pdf pcaffeys disease is a rare, self limiting condition of infancy. Infantile cortical hyperostosis is a selflimited condition, meaning that the disease resolves on its own without treatment, usually within 69 months. The disease may be present at birth or occur shortly thereafter.
Infantile cortical hyperostosis definition of infantile. Infantile cortical hyperostosis is a self limiting inflammatory disorder of infants with triad of soft tissue swelling, bone lesions on xrays and irritability. Letha prenatal onset infantile cortical hyperostosis caffey disease. All structured data from the file and property namespaces is available under the creative commons cc0 license.
Infantile cortical hyperostosis is a selflimited inflammatory disorder of infants that causes bone changes, soft tissue swelling and irritability. The incidence of infantile cortical hyperostosis in this family is as common today as it was two generations ago, and there has been no diminution in the. Infantile cortical hyperostosis caffey disease is characterized by radiological evidence of cortical hyperostosis, soft tissue swellings, fever and. 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.
Infantile cortical hyperostosis and facial nerve palsy. Other less constant features include pleurisy, pseudoparalysis, and pallor. It is also known as caffey disease or caffeys disease. Enlargements, or hyperostoses, are typically hard, bilaterally symmetric and widest at the middiaphysis fig. Media in category xrays of infantile cortical hyperostosis this category contains only the following file.
A rare inflammatory disorder that affects bones and soft tissue in infants. Kamoungoldrat a, le merrer m j oral maxillofac surg, 6610. The most common presentation is that of an irritable child. Caffey disease or infantile cortical hyperostosis ich is a rare disorder characterised by acute inflammation of the periosteum and the overlying soft tissues and is usually accompanied by systemic changes of fever and irritability. Infantile cortical hyperostosis an inquiry into the. In 1961, the senior author reported 11 members of one family with infantile cortical hyperostosis. On radiological exams, the cortical hyperostosis is always present, associated or. Caffeysilverman syndrome infantile cortical hyperostosis. 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 identi fied as a new syndrome almost simultane ously by. Birth order and maternal age for reported cases of severe.
Infantile cortical hyperostosis or caffeys disease on pediatric oncall. 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 of the mandible article pdf available in british journal of oral and maxillofacial surgery 466. There is no known treatment for hyperostosis frontalis interna. Files are available under licenses specified on their description page. Observations on the etiology and therapy of infantile cortical hyperostosis. The bone abnormalities mainly affect the jawbone, shoulder blades scapulae, collarbones clavicles, and the shafts diaphyses of long bones in the. Report of a case with observations on clinical manifestations, radiology, and pathology with a late followup of. 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. Infantile cortical hyperostosis europe pmc article europe. Pediatric radiologist john caffey 18951978 7 first described infantile cortical hyperostosis with colleague wa silverman in 1945. Roentgenograms were made to evaluate a neonatal patient presenting multiple softtissue swellings.
They are not necessary for a differential diagnosis hyperostosis frontalis interna wikipedia. Journal of pediatric ophthalmology and strabismus introductionthe first clinicoradiological description of infantile cortical hyperostosis ich was made in 1945 by caffey and silverman,1 with. Pdf caffeys disease infantile cortical hyperostosis. The disease is characterized by regressive subperiosteal hyperosteogenesis mainly affecting long bones, mandible, clavicles, and ribs which are remarkably swollen and deformed on xrays. Steroids may benefit in the symptomatic management of the disease. Infantile cortical hyperostosis or caffeys disease is a disorder of infants and is selflimiting. May 09, 2018 infantile cortical hyperostosis is an inflammatory process of unclear etiology. Pdf infantile cortical hypersotosis is a rare disease that affects children during the first six months of life, and is characterized by new. The authors report a rare case of isolated unilateral congenital proptosis associated with infantile cortical hyperostosis ich in an otherwise. Excessive new bone formation hyperostosis is characteristic of caffey disease.
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. Find out information about hyperostosis, cortical, congenital. Hitherto undescribed characteristics of the pathology of infantile cortical hyperostosis caffeys disease. In approximately six and a half years, 17 cases of infantile. Infantile cortical hyperostosis of the ribs caffeys disease. Infantile cortical hyperostosis report of seventeen cases glen g. Infantile cortical hyperostosis caffey disease differential. Infantile cortical hyperostosis of scapula presenting as erbs palsy. It rarely if ever appears after 5 months of age and usually resolves spontaneously by 2 years of age.
Ischaemia avascular necrosis osteonecrosis of the jaw algoneurodystrophy hypertrophic pulmonary osteoarthropathy nonossifying fibroma pseudarthrosis stress fracture fibrous dysplasia monostotic polyostotic skeletal fluorosis bone cyst aneurysmal bone cyst hyperostosis infantile cortical hyperostosis osteosclerosis. The genetic aspects of infantile cortical hyperostosis are discussed. Drinkwater bm, crino jp, garcia j, ogburn j, hecht jt. 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 was first described and named in 1945 by caffey and silverman 1.
The enlargement of soft tissue, especially of the heart, is a serious feature of this disorder. Infantile cortical hyperostosis has somewhat unusual features for a hereditary disorder. Most commonly mandible, clavicle and ulna are affected leading to inflammation. The following is a case report of ich limited to four contiguous ribs with. As this resolves, the periosteum remains thickened, and subperiosteal immature lamellar bone is noted. Infantile cortical hyperostosis ich, also called caffey disease, occasionally presents as pyrexia of unknown origin puo. Longterm deformities of the involved bones, including bony fusions and limblength inequalities, are possible but rare. 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. Perinatal death in two sibs with infantile cortical hyperostosis caffey disease. Infantile cortical hyperostosis in rhesus monkeys macaca mulatta is encountered as a congenital enlargement of the diaphyses of long bone. The syndrome that has become known as infantile cortical hyperostosis, after the suggestion of caffey and silverman, 1 is. It usually presents in infancy and clinical features include sudden onset of irritability, fever, decreased appetite and swelling of overlying soft tissues that precedes cortical thickening of underlying bones. Infantile cortical hyperostosis and col1a1 mutation in.
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. Besides the classically described subperiosteal thickening, the present patient radiographically also had wellcircumscribed intramedullary lytic lesions in both proximal tibial metaphyses, which subsequently disappeared in 3 months. In the early stages of this condition, inflammation of the periosteum and adjacent soft tissues is observed. On some late skeletal changes in chronic infantile cortical hyperostosis. Face swelling in infants may have several causes including infantile cortical hyperostosis caffey disease, an inflammatory process with swelling of soft tissues. The bone affection is usually asymmetrical and include predominantly mandible, ribs, clavicle and long bones like tibia, ulna, and femur. An onset in early infancy, irritability, softtissue s.
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