The treatment with penicillin late in pregnancy and the babys negative blood wr made an active lesion less likely, as did the fact that there wasno clinical and. Infantile cortical hyperostosis caffey disease workup. Since then, 10 new cases have occurred in this family resulting in a total of 21 cases. Infantile cortical hyperostosis ich is a benign selflimiting condition affecting young infants. In the year 1945 caffey and silverman1 first described a new syndrome which they called infantile cortical hyperostosis. These two children are cousins born within 24 h of each other in separate cities, and their disease followed similar clinical courses. Unilateral infantile cortical hyperostosis springerlink. 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 was first described and named in 1945 by caffey and silverman 1. In addition to these changes, which can appear quite prominently on xray, the involved. These reports stimulated a great deal of interest in the disease, and by 1952 there were over 100 case reports in the literature. Infantile cortical hyperostosis caffeysilverman syndrome. Collagen i is the most important component of bone and dentine. 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. 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 caffey disease is benign and self. Infantile cortical hyperostosis of the mandible sage journals. Ich is a disorder affecting the skeletal system of infants. However, the severe and lethal form of the disease appears to be inherited as an autosomal recessive. As confirmed in this family, caffey disease is an autosomal dominant disorder of. It is inherited as autosomal dominance with incomplete penetrance and variable expression.
The bone abnormalities mainly affect the jawbone, shoulder blades scapulae, collarbones clavicles, and the shafts diaphyses of long bones in the arms and legs. 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. The disease can be fatal when it presents antenatally, especially before a gestational age of 35 weeks. Ich usually presents within 6 months of life but can also present at birth. Infantile cortical hyperostosis archives of disease in. Pdf on oct 18, 2014, pravakar mishra and others published infantile cortical hyperostosis. The genetic aspects of infantile cortical hyperostosis are discussed. Infantile cortical hyperostosis, or caffey disease, is a selflimiting bone disorder characterized by fever, irritability, soft tissue swelling and cortical thickening of bone.
It has been suggested that the diagnosis was one of infantile cortical hyperostosis. Infantile cortical hyperostosis caffey s disease is a self limited disease. Infantile cortical hyperostosis radiology rsna publications online. Two cases of infantile cortical hyperostosis are presented in the hope of eliciting word of increased incidence seen by others. Common presentations are soft tissue swelling, bony changes which usually involves the long bones, ribs and mandible and hyper irritability associated with fever. Roentgenograms were made to evaluate a neonatal patient presenting multiple softtissue swellings.
Infantile cortical hyperostosis, caffeys disease, involving. Infantile cortical hyperostosis ich, omim 114000 is a rare familial disorder which affects infants. The initial radiographs insinuated that the disease had been present. Born at gestational age of 27 weeks and 4 days, the patient had typical features of polyhydramnios, anasarca, hyperostosis of multiple bones, micrognathia, pulmonary hypoplasia, and hepatomegaly. The clinical picture is that of irritability, soft tissue swelling at various sites mandible, clavicle, limbs with local warmth, and pain on palpation.
This paper is unique in that it is the first paper to report a lethal form of prenataltype infantile cortical hyperostosis diagnosed in south korea. At about the same time smyth, potter, and silverman2 reported independently a group of cases with similar changes under the title of periosteal reaction, fever and irritability. Infantile cortical hyperostosis is a rare disease, and a diagnosis should be made to avoid invasive procedures. The familial occurrence of infantile cortical hyperostosis. Undoubtedly, many cases go unrecognized, since two of. 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. Roentgenograms 3months later, attheageof years, showed amarked increase in tile alllount ofpnb along the extensor surface of theleftulna fig. Infantile cortical hyperostosis secondary to prostaglandin therapy.
While rare, it is an important diagnosis to consider as early recognition may prevent unnecessary invasive procedures, antibiotic. Infantile cortical hyperostosis is a selflimited condition, meaning that the disease resolves on its own without treatment, usually within 69 months. 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. 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. 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.
We present the clinical, ultrasonic, radiographic, and pathologic findings in an instructive case of early onset prenatal cortical hyperostosis. Caffeys disease or infantile cortical hyperostosis is a. Infantile cortical hyperostosis is a disease of unknown cause, where bizarre thickening of the cortical bones of infants is the prime finding. Infantile cortical hyperostosis was recognized as an entity and the name suggested by caffey and. Infantile cortical hyperostosis, fever, pain, tenderness, hyperaesthesia, soft tissue swelling, redness. 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. Smyth, potter and silverman 2 were among the early workers to add to the rapidly growing number of cases. Pdf infantile cortical hypersotosis is a rare disease that affects children during the first six months of life, and is characterized by new. Request pdf infantile cortical hyperostosis caffey disease. A clinical diagnosis of infantile cortical hyperostosis was made. Prenatal cortical hyperostosis with col1a1 gene mutation. Infantile cortical hyperostosis or caffey disease is a genetic disorder, with autosomal dominant inheritance in its usual form, with incomplete penetrance. Fetuina deficiency is associated with infantile cortical hyperostosis. 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 commonly resolves on its own without treatment, usually within 6 months to first year of life. Eleven new cases of infantile cortical hyperostosis are reported. Infantile cortical hyperostosis is a disease of presently unknown etiology which occurs in early infancy. New insights show that this selflimited condition is collagen irelated. Infantile cortical hyperostosis, or caffeys disease, usually presents with typical radiological features of soft tissue swelling and cortical thickening of the underlying bone. Infantile cortical hyperostosis secondary to prostaglandin. Achest xray on march 27, 1958, revealed no abnormality. Jan 26, 2021 the effects of infantile cortical hyperostosis can sometimes resemble those of child physical abuse.
Since that time the disease has been widely recognized, with. Infantile cortical hyperostosis ichcaffey disease is an inflammatory collagenopathy of infancy, manifested by subperiosteal bone hyperplasia. Infantile cortical hyperostosis manifesting as congenital unilateral. A case of infantile cortical hyperostosis in a 4monthold child is reported, with involvement of the mandible and left ulna.
It is characterized by cortical hyperostosis of certain bones associated with painful soft tissue swelling over the affected structures. The data suggest that an autosomal dominant gene with varying expressivity could be. Following the administration of corticotropin there was a rapid improvement in clinical signs, with later return of the laboratory studies to normal. Infantile cortical hyperostosis discussion it is clear that the periostitis could be a manifestation of active syphilis, or a residuum of the disease, or of nonspecific origin. Pdf caffeys disease infantile cortical hyperostosis. Infantile cortical hyperostosis and col1a1 mutation in four. During the course ofthe next twoweeks, the temperature varied between 99 and 102, but never became normal. Infantile cortical hyperostosis jama pediatrics jama network. Infantile cortical hyperostosis is characterised by an infantile episode of subperiosteal new bone formation.
It is characterized by unusual irritability, soft tissue swelling, and cortical hyperostosis in multiple bones of the skeleton. Pdf infantile cortical hyperostosis of the mandible. Caffey regularly gave credit toaoske forhisobservations. Original description of infantile cortical hyperostosis. An onset in early infancy, irritability, softtissue swelling, and cortical hyperostosis were the characteristic features of the disease. T wo eases of infantile cortical hyperostosis are presented be cause of the relative newness and in frequency of this condition. 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. Longterm deformities of the involved bones, including bony fusions and limblength inequalities, are possible but rare. Thegenetic aspects ofinfantile cortical hyperostosis are discussed. Their 14yearold maternal uncle appeared to have had symptoms identical to those of caffeys disease at three months of age. Infantile cortical hyperostosis archives of disease in childhood. Most commonly mandible, clavicle and ulna are affected leading to inflammation. It is characterized by unusual irritability, soft tissue swelling.
Pdf infantile cortical hyperostosis of the mandible researchgate. The symptoms are irritability, fever and hyperostosis of bones. Infantile cortical hyperostosis caffey disease is a rare selflimiting. Two cases with varied presentations find, read and cite all the research you need on researchgate. Also named caffey disease, infantile cortical hyperostosis is a rare disease that usually affects children of a few weeks of age. Infantile cortical hyperostosis caffey disease hkmj. For unknown reasons, the swelling and pain associated with caffey disease typically go away within a few months. Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. 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. It was first reported by roske in a seven weeks old baby2. This fatal, premature form of the disease is known to occur in. Infantile cortical hyperostosis ich is a benign self limiting disease appearing in early infancy. A novel col1a1 mutation in infantile cortical hyperostosis.
The initial radiographs insinuated that the disease had been present for some. Several cases of the syndrome of infantile cortical hyperostosis have been reported since caffey and silverman1 first described this heretofore unknown disease of infants. Infantile cortical hyperostosis occurred in three generations of a family affecting eight different members. It usually occurs during the first 6 months of life and presents with periosteal new bone. Infantile cortical hyperostosis is usually a selflimiting inflammatory disease that begins in early infancy. A rare case of lethal prenatalonset infantile cortical. Sekanina fromthe departmentofpaediatrics, hospitalnovemestonamorav6,czechoslovakia frifa,l. Case report 1rao k, 1taufik ml 1orthopaedics, hospital tengku ampuan afzan, kuantan, pahang introduction. Infantile cortical hyperostosis was first described and named by caffey and silverman in 1945. Lethal prenatal cortical hyperostosis, a more severe disorder that appears earlier in development and is often fatal before or shortly after birth, is sometimes called lethal prenatal caffey disease.
Pathology of infantile cortical hyperostosis caffeys disease. Al kaissi reported a case of suspected child abuse involving a female infant aged 3 months with multiple inflamed swellings over the limbs. Pdf pcaffeys disease is a rare, self limiting condition of infancy. Omim 114000 is a genetic disorder characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles 1. Infantile cortical hyperostosis and giant cell hepatitis. The diagnosis of ich is often difficult as there are many clinical conditions that have. In 1961, the senior author reported 11 members of one family with infantile cortical hyperostosis. Excessive new bone formation hyperostosis is characteristic of caffey disease. Infantile cortical hyperostosis jama pediatrics jama. Oct 01, 2008 infantile cortical hyperostosis is usually a selflimiting inflammatory disease that begins in early infancy. The syndrome was called infantile cortical hyperostosis by caffey and was thought to be a benign disease of variable duration. Caffey and silverman accounted the first definition of the disease in 19454. Smyth, potter and silverman2 were among the early workers to add to the rapidly growing number of cases.
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