It is inherited as autosomal dominance with incomplete penetrance and variable expression. Information and translations of hyperostosis, cortical, congenital in the most comprehensive dictionary definitions resource on the web. The disease may be present at birth or occur shortly thereafter. Hyperostosis frontalis interna nord national organization. Some clinicians believe that it may be a common abnormality found in as many as 12 percent of the female population. In the early stages of this condition, inflammation of the periosteum and adjacent soft tissues is observed.
Files are available under licenses specified on their description page. Infantile cortical hyperostosis is a rare disease, and a diagnosis should be made to avoid invasive procedures. Hyperostosis cortical infantile article about hyperostosis. Find out information about hyperostosis cortical infantile. The bone marrow spaces contain vascular fibrous tissue. Definition of hyperostosis, cortical, congenital in the dictionary. 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 an inquiry into the. It is also known as caffeys disease or caffeysilverman disease after the persons who discovered it. Hyperostosis cortical infantile symptoms, diagnosis. Infantile cortical hyperostosis caffey disease is characterized by radiological evidence of cortical hyperostosis, soft tissue swellings, fever and irritability. The genetic aspects of infantile cortical hyperostosis are discussed. Morgagnistewartmorel syndrome genetic and rare diseases.
Hyperostosis frontalis interna definition of hyperostosis. Cifuentes, md1 1departments of pediatrics, hennepin county medical center and university of minnesota, minneapolis, minnesota am j perinatol rep 2017. Pathology both sporadic and autosomal recessive inheritance ha. Cases of severe prenatal cortical hyperostosis caffeysilverman disease rolf r.
A 7 months old girl born of term normal vaginal hospital delivery was brought with. Pdf on aug 1, 2010, alejandro ludman and others published hiperostosis cortical infantil. Abstractinfantile cortical hyperostosis, or caffeysilverman disease, is a rare condition characterised by generalised bone proliferation mediated by an acute inflammatory process. The disorder may be found associated with a variety of conditions such as. 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.
Skeletal growth is a strictly controlled phenomenon. Soft parts of both legs are thickened in frontal and lateral view. Infantile cortical hyperostosis latest news and research. 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.
The bone affection is usually asymmetrical and include predominantly mandible, ribs, clavicle and long bones like tibia, ulna, and femur. However, the severe and lethal form of the disease appears to be inherited as an autosomal recessive disorder. Infantile cortical hyperostosis or caffey disease is a genetic disorder, with autosomal dominant inheritance in its usual form, with incomplete penetrance. Longterm deformities of the involved bones, including bony fusions and limblength inequalities, are possible but rare. The bone abnormalities mainly affect the jawbone, shoulder blades scapulae, collarbones clavicles, and the shafts diaphyses of long bones in the. Cortical hyperostosis secondary to prolonged use of. 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 condition may affect virtually any bone and causes excessive enlargement of part of the bone cortex. Infantile cortical hyperostosis or caffeys disease on pediatric oncall.
All structured data from the file and property namespaces is available under the creative commons cc0 license. 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. It is not clear that this disorder is actually rare. Tabris, captain, mc, usa infantil k cortical hyperostosis is an obscure, selflimited bone disease of infants. Infantile cortical hyperostosis is a selflimited inflammatory disorder of infants that causes bone changes, soft tissue swelling and irritability. Hyperostosis corticalis generalisata genetic and rare. The clinical picture was characterized by a non tender swelling of the left side of. Infantile cortical hyperostosis caffeysilverman disease. Infantile cortical hyperostosis is a self limiting inflammatory disorder of infants with triad of soft tissue swelling, bone lesions on xrays and irritability. Infantile cortical hyperostosis or caffeysilverman syndrome is a disorder of unknown cause that affects the skeleton and some of the contiguous fascias and muscles. 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.
Pathology an abnormal enlargement of the outer layer of a bone 2. Prenatal onset infantile cortical hyperostosis radiology. Hyperostosis frontalis interna is characterized by the thickening of the frontal bone of the skull. A rare inflammatory disorder that affects bones and soft tissue in infants. Although the etiology of this condition is not completely understood, familial and sporadic forms appear to exist. 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 ich is a rare and mostly self limiting condition affecting young infants. Antenatal diagnosis of prenatal 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. Infantile cortical hyperostosis is an unusual disease of an unknown etiology. Finally, infantile cortical hyperostosis is the diagnosis with the most difficult differentiation from prostaglandininduced hyperostosis.
Roentgenograms were made to evaluate a neonatal patient presenting multiple softtissue swellings. 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. 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. The bone abnormalities mainly affect the jawbone, shoulder blades scapulae, collarbones clavicles, and the shafts diaphyses of long bones in the arms and legs. Dr william hunter iii, department of pathology, creighton university school of medicine, 2500 california plaza, omaha, ne 68178. Hyperostosis definition of hyperostosis by the free dictionary. 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. 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. Infantile cortical hyperostosis is a disease of unknown cause, where bizarre thickening of the cortical bones of infants is the prime. Hyperostosis definition of hyperostosis by the free. Case report hyperostosis of the frontal, temporal, and sphenoid bones. Infantile cortical hyperostosis caffey disease treatment.
Infantile cortical hyperostosis of scapula presenting as erbs palsy. It is characterized by acute inflammation of the periostium and the overlying soft tissue and is. Infantile cortical hyperostosis and facial nerve palsy. Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. 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.
May 09, 2018 infantile cortical hyperostosis is an inflammatory process of unclear etiology. Definition of hyperostosis frontalis interna in the dictionary. Infantile cortical hyperostosis caffeys disease ich is characterized by radiological evidence of cortical hyperostosis, soft tissue swelling and irritability. As this resolves, the periosteum remains thickened, and subperiosteal immature lamellar bone is noted. Cortical hyperostosis is a situation where it can be observed a diffuse periosteal neo. Infantile cortical hyperostosis definition of infantile. Diagnosis can be made through clinical evaluation and xray studies. Infantile cortical hyperostosis pediatric oncall journal. Birth order and maternal age for reported cases of severe. 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. 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. 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. Thank you for your interest in spreading the word about the bmj. 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.
Information and translations of hyperostosis frontalis interna in the most comprehensive dictionary definitions resource on the web. Unilateral infantile cortical hyperostosis springerlink. 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 was first described and named in 1945 by caffey and silverman 1. A case of infantile cortical hyperostosis or caffeys disease diagnosed in a infant girl of 5 month is reported.
1375 1487 526 24 955 249 762 377 217 1410 982 882 52 344 845 360 1254 648 1462 1255 1488 205 276 196 314 710 258 1386 1016 1409 1049 616 232 872 552 1495 292 422 1059 630 233 114 399 739