Montagne Published 2004 in Pediatric Radiology DOI: 10.1007/BF00973531 Four patients who presented with predominant or exclusive face and orbital involvement by de Toni-Caffey's disease are reported. [semanticscholar.org]

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]

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]

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

• 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]

  It is characterized by a triad of systemic symptoms (irritability and fever), soft tissue swelling and underlying cortical bone thickening. [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]

• Joint Limitation

  Irritable patient with range-of-motion joints limitations was detected. There was no pyrexia during presentation. Abdominal and pelvic structures were normal. No clinical evidence of hemorrhage was found during follow-up on disease-affected patient. [hindawi.com]

• Hyperlaxity

  Individuals bearing the mutation, whether they had experienced an episode of cortical hyperostosis or not, had joint hyperlaxity, hyperextensible skin, and inguinal hernias resembling symptoms of a mild form of Ehlers-Danlos syndrome type III. [pesquisa.bvsalud.org]

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]

• 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]

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

Treatment is usually conservative. The course of the illness is generally benign and recovers completely in many cases without treatment by 1 year. [crimsonpublishers.com]

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]

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]

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]

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]

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]