Infantile cortical hyperostosis an inquiry into the. Infantile cortical hyperostosis is a rare disease, and a diagnosis should be made to avoid invasive procedures. Infantile cortical hyperostosis is a disease of unknown cause, where bizarre thickening of the cortical bones of infants is the prime. 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.
Cifuentes, md1 1departments of pediatrics, hennepin county medical center and university of minnesota, minneapolis, minnesota am j perinatol rep 2017. 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. Although the etiology of this condition is not completely understood, familial and sporadic forms appear to exist. Infantile cortical hyperostosis caffey disease treatment. Roentgenograms were made to evaluate a neonatal patient presenting multiple softtissue swellings. Information and translations of hyperostosis frontalis interna in the most comprehensive dictionary definitions resource on the web. It is characterized by acute inflammation of the periostium and the overlying soft tissue and is. 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. 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.
Pdf on aug 1, 2010, alejandro ludman and others published hiperostosis cortical infantil. Soft parts of both legs are thickened in frontal and lateral view. Diagnosis can be made through clinical evaluation and xray studies. Abstract caffey disease or cortical hyperostosis is characterized by massive subperiostal new bone formation at diaphyses of long bones mandible and clavicle as a result of a multifocal inflammatory skeletal process and classified into two forms regarding the onset of. Infantile cortical hyperostosis is a selflimited condition, meaning that the disease resolves on its own without treatment, usually within 69 months. Caffey disease or infantile cortical hyperostosis is a proliferative bone disease, resulting in new bone formation at the periosteum, sometimes exuberant, becoming compact and with a pronounced cortical thickening. Infantile cortical hyperostosis or caffeysilverman syndrome is a disorder of unknown cause that affects the skeleton and some of the contiguous fascias and muscles. Birth order and maternal age for reported cases of severe. Infantile cortical hyperostosis caffeys disease ich is characterized by radiological evidence of cortical hyperostosis, soft tissue swelling and irritability. Infantile cortical hyperostosis or caffey disease is a genetic disorder, with autosomal dominant inheritance in its usual form, with incomplete penetrance. 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. All structured data from the file and property namespaces is available under the creative commons cc0 license.
However, the severe and lethal form of the disease appears to be inherited as an autosomal recessive disorder. Information and translations of hyperostosis, cortical, congenital in the most comprehensive dictionary definitions resource on the web. 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. Dr william hunter iii, department of pathology, creighton university school of medicine, 2500 california plaza, omaha, ne 68178. Cortical hyperostosis secondary to prolonged use of. Infantile cortical hyperostosis is a selflimited inflammatory disorder of infants that causes bone changes, soft tissue swelling and irritability. Definition of hyperostosis frontalis interna in the dictionary. It is characterized by acute inflammation of the periostium and the overlying soft tissue and is accompanied by systemic changes of irritability and fever. Case report hyperostosis of the frontal, temporal, and sphenoid bones.
Infantile cortical hyperostosis is a self limiting inflammatory disorder of infants with triad of soft tissue swelling, bone lesions on xrays and irritability. The genetic aspects of infantile cortical hyperostosis are discussed. Finally, infantile cortical hyperostosis is the diagnosis with the most difficult differentiation from prostaglandininduced hyperostosis. 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. In the early stages of this condition, inflammation of the periosteum and adjacent soft tissues is observed. It occurs under all circumstances, in cities, rural communities, in all types of climates, seasons, races, social strata, and its incidence is the same among males and fe. It is not clear that this disorder is actually rare. Hyperostosis definition of hyperostosis by the free. Feb 24, 2017 the diagnosis of morgagnistewartmorel syndrome is based upon a radiological finding of hyperostosis frontalis interna, as well as a combination of clinical features including obesity, virulism a female disorder in which there is development of secondary male sexual characteristics like growth of facial and body hair, possible mental. A 7 months old girl born of term normal vaginal hospital delivery was brought with.
The clinical picture was characterized by a non tender swelling of the left side of. The condition may affect virtually any bone and causes excessive enlargement of part of the bone cortex. Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. Tabris, captain, mc, usa infantil k cortical hyperostosis is an obscure, selflimited bone disease of infants. Definition of hyperostosis, cortical, congenital in the dictionary. Infantile cortical hyperostosis and facial nerve palsy. Pathology both sporadic and autosomal recessive inheritance ha. 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 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. 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. Longterm deformities of the involved bones, including bony fusions and limblength inequalities, are possible but rare. Find out information about hyperostosis cortical infantile. Hyperostosis corticalis generalisata genetic and rare. The bone abnormalities mainly affect the jawbone, shoulder blades scapulae, collarbones clavicles, and the shafts diaphyses of long bones in the arms and legs. The disease may be present at birth or occur shortly thereafter. As this resolves, the periosteum remains thickened, and subperiosteal immature lamellar bone is noted. The disorder may be found associated with a variety of conditions such as. Hyperostosis frontalis interna definition of hyperostosis.
Prenatal onset infantile cortical hyperostosis radiology. Infantile cortical hyperostosis caffeysilverman disease. Hyperostosis frontalis interna nord national organization. Infantile cortical hyperostosis pediatric oncall journal.
Some clinicians believe that it may be a common abnormality found in as many as 12 percent of the female population. Caffey disease or infantile cortical hyperostosis ich is a rare and mostly self limiting condition affecting young infants. Cortical hyperostosis is a situation where it can be observed a diffuse periosteal neo. A case of infantile cortical hyperostosis or caffeys disease diagnosed in a infant girl of 5 month is reported. Infantile cortical hyperostosis of scapula presenting as erbs palsy. A rare inflammatory disorder that affects bones and soft tissue in infants. Morgagnistewartmorel syndrome genetic and rare diseases. 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. 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.
The bone marrow spaces contain vascular fibrous tissue. Antenatal diagnosis of prenatal cortical hyperostosis. Infantile cortical hyperostosis is an unusual disease of an unknown etiology. Infantile cortical hyperostosis latest news and research. May 09, 2018 infantile cortical hyperostosis is an inflammatory process of unclear etiology. 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.
The bone abnormalities mainly affect the jawbone, shoulder blades scapulae, collarbones clavicles, and the shafts diaphyses of long bones in the. 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. Abstractinfantile cortical hyperostosis, or caffeysilverman disease, is a rare condition characterised by generalised bone proliferation mediated by an acute inflammatory process. It is inherited as autosomal dominance with incomplete penetrance and variable expression. Infantile cortical hyperostosis or caffeys disease on pediatric oncall. Infantile cortical hyperostosis was first described and named in 1945 by caffey and silverman 1. Excessive new bone formation hyperostosis is characteristic of caffey disease. Hyperostosis cortical infantile symptoms, diagnosis. Hyperostosis cortical infantile article about hyperostosis. 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 caffey disease is characterized by radiological evidence of cortical hyperostosis, soft tissue swellings, fever and irritability. The diagnosis of morgagnistewartmorel syndrome is based upon a radiological finding of hyperostosis frontalis interna, as well as a combination of clinical features including obesity, virulism a female disorder in which there is development of secondary male sexual characteristics like growth of facial and body hair, possible mental. Skeletal growth is a strictly controlled phenomenon. Hyperostosis frontalis interna is characterized by the thickening of the frontal bone of the skull. It is also known as caffeys disease or caffeysilverman disease after the persons who discovered it.