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]

Infantile cortical hyperostosis presenting with exophthalmos. [canadianjournalofophthalmology.ca]

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

ICH usually presents within 6 months of life but can also present at birth. [crimsonpublishers.com]

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]

• Swelling

  Farlex Partner Medical Dictionary © Farlex 2012 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]

  After birth clinical aspects of the disease can be observed during the neonatal phase: tender soft-tissue swellings, hyperirritability, and fever. [hindawi.com]

  ICH is a self-limited disorder that is classically characterized by a triad of bone changes, soft-tissue swelling, and irritability. [canadianjournalofophthalmology.ca]

  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]

• Fever

  Farlex Partner Medical Dictionary © Farlex 2012 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]

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

  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]

• Soft Tissue Swelling

  MRI provides excellent differentiation between bone and soft tissues. The modality also allows an evaluation of the extent of soft-tissue involvement, which includes edema. [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]

• Pain

  Reg Anesth Pain Med 36(5): 424-429. [crimsonpublishers.com]

  He said there was nothing to be done for DISH except to try to stay active to avoid stiffening of the joints and back, and take pain medicine when necessary. He tried 10 or so pain meds without finding anything that worked very well. [connect.mayoclinic.org]

  We report a 1-month-old Chinese boy with Caffey disease who presented with painful swelling over his shins bilaterally. [hkmj.org]

  Surgery performed for the sole purpose of pain relief is rarely effective, unless the pain is secondary to nerve impingement. [orthopaedicsone.com]

  A 43 year old male with knee pain. [ijri.org]

• Anemia

  The patient had hereditary hemolytic anemia with unstable hemoglobin of the Christchurch type. [thejns.org]

  Acute manifestations—fever, anemia, lymphocytosis, increased sedimentation rate of erythrocytes and tender brawny nonhyperemic edema of soft tissues overlying affected bone—subside spontaneously after a few weeks. [jamanetwork.com]

  Hyperirritability, fever and anemia with leukocytosis are the outstanding clinical manifestations; characteristic shadows of external thickenings of the corticallis of the bones are pathognomonic. [pediatrics.aappublications.org]

  + Dyschondrosteosis and Nephritis Eiken Skeletal Dysplasia Ellis-Van Creveld syndrome + epicondylitis Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness Epiphyseal Dysplasia, Baumann Type Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia [rgd.mcw.edu]

  Cerebral circulation and metabolism in sickle cell and other chronic anemias, with observations on the effects of oxygen inhalation. [ncbi.nlm.nih.gov]

• 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]

• Failure to Thrive

  When the mandible (lower jaw bone) is affected, infants may refuse to eat, leading to failure to thrive. [en.wikipedia.org]

  Mandibular involvement may lead to poor oral intake and failure to thrive. Symptomatic episodes are usually self-limited and may recur spontaneously. Typically, the episodes resolve by the age of 2 to 3 years. [posna.org]

• Dysphagia

  All rights reserved. infantile cortical hyperostosis Caffey disease An AD condition characterized by early onset hyperostosis and neo-osteogenesis, of facial and, less commonly, long bones, soft tissue swelling, hyperirritability, dysphagia, fever, pleuritis [medical-dictionary.thefreedictionary.com]

  Other rare clinical findings include dysphagia, nasal obstruction and proptosis.9,14,15 The study patient had none of these uncommon features. [omjournal.org]

  Other rare clinical findings are dysphagia, nasal obstruction and proptosis. Pleurisy with small amounts of sterile pleural fluid has been reported in a small number of cases with extensive rib involvement [13]. [crimsonpublishers.com]

• Heart Disease

  A complication of long-term PGE1 infusion in an infant with congenital heart disease. [link.springer.com]

  Prostaglandin-induced cortical hyperostosis in infants with cyanotic congenital heart disease. [radiopaedia.org]

  heart diseases to keep the ductus arteriosus patent. [ijpsr.com]

  This occurred after a prolonged infusion of prostaglandin E1 for a cyanotic congenital heart disease. [nature.com]

• Erythema

  Children usually present within the first five months of life with tender and painful soft tissue swelling, erythema, fever, and irritability. Caffey disease is a type I collagenopathy. Both familial and sporadic forms exist. [radiopaedia.org]

  There was no erythema or areas of collection. Child was not moving his right lower limb. No regional lymphadenopathy noted. Distal circulation was intact. An extensive laboratory work-up for cause of fever was carried out and it was unrewarding. [crimsonpublishers.com]

  Comfort-Steinberg syndrome [醫]遺傳性胰腺炎綜合征 Compulsive tobacco user syndrome [醫]被動吸煙綜合征,強迫吸煙者綜合征 Congenital epiblepharon-inferior oblique syndrome [醫]先天性瞼贅皮-眼下斜綜合征 Congenital muscular hypertrophy-cerebral syndrome [醫]先天肌肥大-大腦綜合征 Congenital telangiectatic erythema [fastdict.net]

• 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]

• Arthralgia

  […] marked by osteosclerosis of the skull, mandible, clavicles, ribs, and diaphyses of long bones, associated with elevated blood alkaline phosphatase. infantile cortical hyperostosis a syndrome seen in infants under six months of age, marked by fever, arthralgias [medical-dictionary.thefreedictionary.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]

• 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]

• Irritability

  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 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 triad of systemic symptoms (irritability and fever), soft tissue swelling and underlying cortical bone thickening. [omjournal.org]

  Conclusion: Infantile cortical hyperostosis is a collagenopathy, which must be considered as a differential diagnosis in acute bone inflammatory processes, irritability and fever. [pubmed.ncbi.nlm.nih.gov]

  The child was not irritable and no fever was observed at this time. Article History Accepted: Apr 1949 Published in print: May 1950 [pubs.rsna.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]

• 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]

• 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]

Treatment and prognosis Generally, it is a reversible, benign, self-limiting process and often disappears after discontinuation of the prostaglandins but can persist for months 1-3. [radiopaedia.org]

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

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

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]

Four to six months after discharge from hospital, the symptoms disappeared, confirming the good prognosis of this condition. [pubmed.ncbi.nlm.nih.gov]

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]

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]

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]

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]

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

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]

Newborn periosteal reaction can result from a host of underlying entities, which are included in the following table: Etiologies for Periosteal Reaction in the Newborn Physiologic growth Prostaglandin therapy TORCH infections Non-accidental trauma Caffey [med-ed.virginia.edu]

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]

[…] membrane-associated guanylate kinase… Plasticity of the developing visual system has been regarded as the best model for changes of neuronal connections under the… To investigate the relation of ultraviolet radiation and cataract formation, we undertook an epidemiologic [semanticscholar.org]

[citation needed] 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]

[citation needed] 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]