Epidemiology: Clinical Findings: The most common presentation is that of an irritable child. Fever, tenderness, and soft tissue swelling overlying the involved bone are occasionally present. [posna.org]

Patients present with major angulation of the long bones, generalized symmetrical involvement of the skeleton, and polyhydramnios. [emedicine.medscape.com]

Roentgenograms were made to evaluate a neonatal patient presenting multiple soft-tissue swellings. The initial radiographs insinuated that the disease had been present for some time in utero. [hindawi.com]

Both patients were females who presented with enlarged mandibles. [pesquisa.bvsalud.org]

• Fever

  Caffey disease An autosomal dominant condition MIM 114000 characterised by fever, inflammation, swelling of affected bones (tibia, mandible, ulna and facial bones) and restlessness. [medical-dictionary.thefreedictionary.com]

  Fever and pain may be managed expectantly. In a reported case, naproxen given as a prostaglandin inhibitor was successful in treating one case of recurrent infantile cortical hyperostosis. [posna.org]

  Infantile cortical hyperostosis which develops sporadically only in rarity is characterized with fever, irritability and subperiosteal new bone formation at one or more bones of extremity. [synapse.koreamed.org]

  One day after interruption of the drug the fever disappeared. [scielo.br]

• Soft Tissue Swelling

  It causes bone changes, soft-tissue swelling, and irritability. A rare variant known as pre natal onset cortical hyperostosis is severe and fatal, though it is probably a separate entity altogether 1. [radiopaedia.org]

  It is characterized by a clinical triad (fever, soft-tissue swelling, hyperirritability) and a clinching radiographic picture of underlying cortical hyperostosis (thickening or bony expansion). [emedicine.medscape.com]

  Presentation[edit] An affected infant typically has the following triad of signs and symptoms: soft-tissue swelling, bone lesions, and irritability. The swelling occurs suddenly, is deep, firm, and may be tender. [en.wikipedia.org]

• Fishing

  He was formula fed and was not receiving any supplements including vitamin syrup or fish oil. There was no history of recent travel or of being given unpasteurized milk and there was no major medical or social problems in his family. [omjournal.org]

• Pleural Effusion

  When the ribs are affected, costal hyperostosis can be associated with an ipsilateral exudative pleural effusion. Bony rib fusion may occur and lead to scoliosis. [emedicine.medscape.com]

  Location The flat bones are most commonly affected: mandible: in 75-80% of cases clavicles scapula: 10% of cases ribs: lateral aspect; ipsilateral pleural effusion may appear calvaria ilia The ulnae are the long bones most commonly affected. [radiopaedia.org]

  effusion syndrome [醫]卵巢-腹水-胸膜滲出綜合征 Overactive child syndrome [醫]小兒多動綜合征 P-C syndrome [醫][=posterior cervical syndrome ]宮頸后綜合征,頸后綜合征 PEP syndrome [醫]PEP綜合征 PIE syndrome [醫]PIE綜合征 PLW syndrome [醫][=Prader-Labhart-Willi syndrome ]普-拉-威綜合征:低張力-低智能-性發育低下- [fastdict.net]

• Ectopia Lentis

  Lentis Kozlowski Tsuruta Taki Syndrome Langer Mesomelic Dysplasia Laplane Fontaine Lagardere Syndrome Larsen Syndromes + Leri-Weill dyschondrosteosis Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density Lowry Wood Syndrome Macrocephaly [rgd.mcw.edu]

• Macrocephaly

  Ectopia Lentis Kozlowski Tsuruta Taki Syndrome Langer Mesomelic Dysplasia Laplane Fontaine Lagardere Syndrome Larsen Syndromes + Leri-Weill dyschondrosteosis Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density Lowry Wood Syndrome Macrocephaly [rgd.mcw.edu]

  Labrets Nasal and earrings Hair and nails Circumcision Tattoos and scarification Purpose(s) Part Four: Congenital anomalies Congenital skeletal anomolies Skull malformations Craniosynostoses Complex craniofacial deformities Anencephaly Microcephaly Macrocephaly [corp.credoreference.com]

• Bony Swelling

  The patient was a young infant with irritability and low grade fever who on examination had multiple bony swellings which were slightly tender. [omjournal.org]

• Suggestibility

  These cases suggest that the improved outcome of congenital of infantile cortical hyperostosis may reflect improvement of neonatal mechanical ventilation and availability of neonatal total parenteral nutrition. [ncbi.nlm.nih.gov]

  The data suggest that an autosomal dominant gene with varying expressivity could be responsible in this family and, though the genetic outlook is unfavourable, it is fully balanced by the… CONTINUE READING [semanticscholar.org]

  […] thickening; - thickening of jaw & forearm are the most common sites, but occassionally lesion is diffuse; - mandibular involvement is characteristic; - in extremities, the ulna is frequently invovled; - w/ exception of mandible, single bone involvement is suggestive [wheelessonline.com]

  There was no history suggestive of health-seeking behavior or child abuse by the parents or other family members. No history of any vitamin supplementation or prostaglandin infusions in the child since birth. [wajradiology.org]

• Facial Swelling

  At the admission, the mother’s clinical chief complaint was irritability, facial swelling (Figures 1(a) and 1(b)), and pain when the patient was handled. [hindawi.com]

Knowing which lesions to leave alone or which ones require workup can prevent misdiagnosis and reduce patient anxiety. [ijri.org]

Being aware of this rare disease allows for early suspicion and a better workup and contributes to orthopedic knowledge as its musculoskeletal alterations are reported. [pesquisa.bvsalud.org]

• X-Ray Abnormal

  […] htm Disease Database Caffey's disease aka/or Infantile cortical hyperostosis aka/or Roske-De Toni-Caffey-Smyth syndrome aka/or Caffey De Toni Silvermann syndrome may cause or feature - Miscellaneous syndromes Hyperostosis Symptoms and Signs Genu varum X-ray [orthopaedicweblinks.com]

• Alkaline Phosphatase Increased

  Forty-two of 80 infants (53%) had elevated alkaline phosphatase. The percentage of infants with hyperostosis increased with increasing duration of PGE 1 infusion (42% at 60 days). [pediatrics.aappublications.org]

• Erythrocyte Sedimentation Rate Increased

  Laboratory investigation may demonstrate increased erythrocyte sedimentation rate, increased white blood cell count, increased alkaline phosphatase, or iron deficiency anemia. [posna.org]

• Pleural Effusion

  When the ribs are affected, costal hyperostosis can be associated with an ipsilateral exudative pleural effusion. Bony rib fusion may occur and lead to scoliosis. [emedicine.medscape.com]

  Location The flat bones are most commonly affected: mandible: in 75-80% of cases clavicles scapula: 10% of cases ribs: lateral aspect; ipsilateral pleural effusion may appear calvaria ilia The ulnae are the long bones most commonly affected. [radiopaedia.org]

  effusion syndrome [醫]卵巢-腹水-胸膜滲出綜合征 Overactive child syndrome [醫]小兒多動綜合征 P-C syndrome [醫][=posterior cervical syndrome ]宮頸后綜合征,頸后綜合征 PEP syndrome [醫]PEP綜合征 PIE syndrome [醫]PIE綜合征 PLW syndrome [醫][=Prader-Labhart-Willi syndrome ]普-拉-威綜合征:低張力-低智能-性發育低下- [fastdict.net]

This treatment helps to provide adequate time for the infant to mature in preparation of surgical intervention. However, cortical hyperostosis can occur as a complication of long-term treatment (4-6 wk). [emedicine.medscape.com]

Treatment: Most cases do not require active treatment. Fever and pain may be managed expectantly. In a reported case, naproxen given as a prostaglandin inhibitor was successful in treating one case of recurrent infantile cortical hyperostosis. [posna.org]

Symptomatic treatment was given to good clinical response. [pesquisa.bvsalud.org]

Treatment and prognosis As noted above, Caffey disease is self-limiting and resolves spontaneously. Palliative treatment consists of NSAIDs, e.g. indomethacin. [radiopaedia.org]

Abstract Prognosis of congenital infantile cortical hyperostosis (Caffey's disease) is poor particularly in premature babies. Two cases are presented of congenital Caffey's disease in premature babies. [ncbi.nlm.nih.gov]

Surgery, King Fahad National Guard Hospital, Riyadh, Saudi Arabia Further Information Publication History Publication Date: 04 March 2008 (online) ABSTRACT Prognosis of congenital infantile cortical hyperostosis (Caffey's disease) is poor particularly [thieme-connect.com]

The prenatal form is rare and has a poor prognosis. The prenatal form has been described as a more severe, congenital form of Caffey disease that is probably inherited as an autosomal recessive trait. [emedicine.medscape.com]

Treatment and prognosis As noted above, Caffey disease is self-limiting and resolves spontaneously. Palliative treatment consists of NSAIDs, e.g. indomethacin. [radiopaedia.org]

Etiology: A mutation in the COL1A1 gene has been identified in patients with Caffey disease. This mutation may allow the periosteum to separate from the bone in infancy, leading to the typical clinical findings. [posna.org]

Qualifiers English: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology [decs.bvs.br]

See: Alkaline Phosphatase - Discussion: - disease of unknown etiology affecting skeleton & adjacent tissues; - characterized by fever, rirritability, swelling of soft tissues, & cortical bone thickening; - thickening of jaw & forearm are the most common [wheelessonline.com]

Attempts to determine etiologic factors and to obtain therapeutic responses [jamanetwork.com]

Hypervitaminosis A appears to be a definite etiologic possibility in the postinfantile form. [pediatrics.aappublications.org]

CONGENITAL 1964-90 Allowable Qualifiers English: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology [decs.bvs.br]

(Dorland, 27th ed) Year introduced: 1991 PubMed search builder options Subheadings: analysis anatomy and histology blood chemically induced classification complications diagnosis diagnostic imaging drug therapy enzymology epidemiology etiology genetics [ncbi.nlm.nih.gov]

Epidemiology: Clinical Findings: The most common presentation is that of an irritable child. Fever, tenderness, and soft tissue swelling overlying the involved bone are occasionally present. [posna.org]

Epidemiology[edit] The disease has been reported to affect 3 per 1000 infants younger than 6 months in the United States. No predilection by race or sex has been established. Almost all cases occur by the age of 5 months. [en.wikipedia.org]

Genetics[edit] It has been associated with COL1A1.[1] Pathophysiology[edit] In the early stages of infantile cortical hyperostosis, biopsy shows inflammation of the periosteum and adjacent soft tissues. [en.wikipedia.org]

[…] diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PS parasitology PA pathology PP physiopathology PC prevention [decs.bvs.br]

Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]

The bilateral, almost symmetrical changes are typical of this preventable infection. Note the classical Wimberger's sign of destructive metaphysitis involving the medial aspects of the distal femora and proximal tibae. [isradiology.org]

All efforts must be made to attempt interruption of the drug as soon as possible, aiming at preventing the potential complications. REFERENCES 1. Hoch M, Netz H. Heart failure in pediatric patients. Thorac Cardiovasc Surg. 2005;53:S129-S134. 2. [scielo.br]

Knowing which lesions to leave alone or which ones require workup can prevent misdiagnosis and reduce patient anxiety. [ijri.org]