Caffeys disease or infantile cortical hyperostosis is a rare cause of irritability, bone pain, soft tissue swelling and fever in the infant. Letha prenatal onset infantile cortical hyperostosis caffey disease. Marked cortical bone thickening was detected on radiographs and ct scan images. 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 condition may affect virtually any bone and causes excessive enlargement of part of the bone cortex. Pathology an abnormal enlargement of the outer layer of a. Dr william hunter iii, department of pathology, creighton university school of medicine, 2500 california plaza, omaha, ne 68178. Information and translations of hyperostosis frontalis interna in the most comprehensive dictionary definitions resource on the web. Steroids may benefit in the symptomatic management of the disease. Infantile cortical hyperostosis and facial nerve palsy. It is also known as caffeys disease or caffeysilverman disease after the persons who discovered it. On some late skeletal changes in chronic infantile cortical hyperostosis. Case report hyperostosis of the frontal, temporal, and sphenoid bones. All structured data from the file and property namespaces is available under the creative commons cc0 license.
It is characterized by acute inflammation of the periostium and the overlying soft tissue and is. Observations on the etiology and therapy of infantile cortical hyperostosis. Caffey disease or infantile cortical hyperostosis ich is a rare and mostly self limiting condition affecting young infants. Calvarial hyperostosis syndrome chs, previously also called idiopathic calvarial hyperostosis fischetti et al. Drinkwater bm, crino jp, garcia j, ogburn j, hecht jt. Primarily affect frontal region, may extend in parietal regions. 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. May 09, 2018 infantile cortical hyperostosis is an inflammatory process of unclear etiology. Caffey disease, also called infantile cortical hyperostosis, is a bone disorder that most often occurs in babies. 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 of scapula presenting as erbs palsy. Learningradiology hyperostosis, frontalis, interna. The diaphyses of both radii and ulnae, together with the. Infantile cortical hyperostosis abstract europe pmc.
On the lateral view on the right, the hyperostosis is confined to. Hyperostosis of the skull has many causes, broadly divided into focal or diffuse. It is inherited as autosomal dominance with incomplete penetrance and variable expression. Hyperostosis frontalis interna cortical thickening confined to inner table of the skull noted as an incidental finding. Download fulltext pdf infantile cortical hyperostosis article pdf available in archives of disease in childhood 907.
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. Perinatal death in two sibs with infantile cortical hyperostosis caffey disease. Van buchem disease is an autosomal recessive bone dysplasia characterized by a symmetrically increased thickness of bones, most frequently found as an enlarged jawbone, but also an enlargement of the skull, ribs, diaphysis of long bones, as well as tubular bones of hands and feet, resulting in increased cortical bone density. Infantile cortical hyperostosis caffey disease treatment. Infantile cortical hyperostosis, fever, pain, tenderness, hyperaesthesia, soft tissue swelling, redness. Hyperostosis 1423 hyperostosis andosteogenesis imperfecta. Calvarial hyperostosis syndrome in a young weimaraner dog. Files are available under licenses specified on their description page. For claims with a date of service on or after october 1, 2015, use an equivalent icd10cm code or codes. Find out information about hyperostosis, cortical, congenital. Infantile cortical hyperostosis is a self limiting inflammatory disorder of infants with triad of soft tissue swelling, bone lesions on xrays and irritability. Caffey disease or infantile cortical hyperostosis is a largely selflimiting disorder which affects infants. The median age of presentation is around 9 weeks of age.
The initial radiographs insinuated that the disease had been. There are 7 terms under the parent term hyperostosis in the icd10cm alphabetical index. Infantile cortical hyperostosis with unusual clinical manifestations. The genetic aspects of infantile cortical hyperostosis are discussed.
Find out information about hyperostosis cortical infantile. The syndrome was called infantile cortical hyperostosis by caffey and was thought to be a benign disease of variable duration. Definition of hyperostosis frontalis interna in the definitions. A 7 months old girl born of term normal vaginal hospital delivery was brought with chief complaints of tender swelling over left side of chest in. It is found predominantly in women after menopause and is usually asymptomatic. Infantile cortical hyperostosis occurred in three generations of a family affecting eight different members. The bone abnormalities mainly affect the jawbone, shoulder blades scapulae, collarbones clavicles, and the shafts diaphyses of long bones in the arms and legs. Of the 24 affected members of a family segregating caffey disease in which gensure et al. Excessive new bone formation hyperostosis is characteristic of caffey disease. Mostly frequently it is found as an incidental finding discovered during an. Hci is a unique autosomaldominant sclerosing bone dysplasia affecting the skull base and the calvaria, characterized by cranial nerve deficits due to stenosis of. 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. Hyperostosis frontalis interna radiology reference article.
Infantile cortical hyperostosis or caffeys disease on pediatric oncall. Hyperostosis cortical infantile article about hyperostosis. 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. Hyperostosis frontalis interna is a common, benign thickening of the inner side of the frontal bone of the skull. Soft parts of both legs are thickened in frontal and lateral view. 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. Infantile cortical hyperostosis is an unusual disease of an unknown etiology. Infantile cortical hyperostosis or caffeys disease is a disorder of infants and is selflimiting. 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 has somewhat unusual features for a hereditary disorder. 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. We report a 1monthold chinese boy with caffey disease who presented with painful swelling over his shins bilaterally. 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 disease may be present at birth or occur shortly thereafter. 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 is a selflimited inflammatory disorder of infants that causes bone changes, soft tissue swelling and irritability. 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 is a rare disease, and a diagnosis should be made to avoid invasive procedures. Longterm deformities of the involved bones, including bony fusions and limblength inequalities, are possible but rare. Pathology ofinfantile cortical hyperostosis caffeys disease. Hyperphosphatemia hyperostosis syndrome hhs is a rare autosomal recessive metabolic disorder characterized by elevated serum phosphate levels and radiological evidence of cortical hyperostosis. Hyperphosphatemiahyperostosis syndrome hhs is a rare autosomal recessive metabolic disorder characterized by elevated serum phosphate levels and radiological evidence of cortical hyperostosis. Infantile cortical hyperostosis caffeys disease ich is characterized by radiological evidence of cortical hyperostosis, soft tissue swelling and irritability. A rare inflammatory disorder that affects bones and soft tissue in infants.
It rarely if ever appears after 5 months of age and usually resolves spontaneously by 2 years of age. Infantile cortical hyperostosis is a selflimited inflammatory disorder of infants that causes bone. Infantile cortical hyperostosis is a selflimited condition, meaning that the disease resolves on its own without treatment, usually within 69 months. Although the etiology of this condition is not completely understood, familial and sporadic forms appear to exist. Cortical hyperostosis secondary to prolonged use of. Hyperostosis frontalis interna is classified into four grades of severity based on hershkovitzs morphological and histopathological findings 1. Hyperostosis cortical infantile symptoms, diagnosis. What links here related changes upload file special pages permanent link page.
The disease was demonstrated radiographically by massive cortical diaphyseal thickening and also extensive periosteal new bone formation. Hyperostosis definition of hyperostosis by the free dictionary. Dedicated to the mission of bringing free or lowcost educational materials and information to the global ultrasound community. Infantile cortical hyperostosis definition of infantile.
Recently, a novel gene mutation on the alpha1 chain of type i collagen has been described in patients with the autosomal dominant form of the disease. Roentgenograms were made to evaluate a neonatal patient presenting multiple softtissue swellings. 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. S122s125 april 2014 with 2,204 reads how we measure reads. Infantile cortical hyperostosis caffey disease pediatric. It causes bone changes, softtissue swelling, and irritability. Factors thatargue against thelatter aretheinvolvement ofthemandible, the absence ofahereditary component, thelackofother signs such asblue sclerae anddelicate skin. Familial infantile cortical hyperostosis springerlink.
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. Frontal internal hyperostosis definition of frontal. The hershkovitz classification was modified to include a fifth grade of severity after a cadaveric study in 2011 described hyperostotic findings at the falx cerebri 1,3. Infantile cortical hyperostosis caffey disease is characterized by radiological evidence of cortical hyperostosis, soft tissue swellings, fever and irritability. Infantile cortical hyperostosis was first described and named in 1945 by caffey and silverman 1. Chs has been reported to share clinical, radiographic and histopathological characteristics with canine craniomandibular. Infantile cortical hyperostosis caffey disease is a rare selflimiting inflammatory bony disease of early infancy. Definition of hyperostosis, cortical, congenital in the definitions. As confirmed in this family, caffey disease is an autosomal dominant disorder of unknown etiology, with incomplete penetrance and variable expression. The bone affection is usually asymmetrical and include predominantly mandible, ribs, clavicle and long bones like tibia, ulna, and femur.
The icd10cm alphabetical index is designed to allow medical coders to look up various medical terms and connect them with the appropriate icd codes. Information and translations of hyperostosis, cortical, congenital in the most comprehensive dictionary definitions resource on the web. As this resolves, the periosteum remains thickened, and subperiosteal immature lamellar bone is noted. 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. Pdf infantile cortical hyperostosis of the mandible. Infantile cortical hyperostosis pubmed central pmc. Frontal view of skull on left shows sclerosis in a patchy almost nodular appearance blue arrows which characteristically does not cross the midline black arrow.