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]

• 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]

• Pathologist

  The complete set will cover all organ systems and is intended for use by pathologists, toxicologists, and others con cerned with evaluating toxicity and carcinogenicity stud ies. [books.google.com]

• Cyanosis

  In the first hours of life, the neonate started to develop respiratory distress and cyanosis. On physical exam, a systolic murmur of a patent ductus arteriosus was found. The child had no dysmorphic features. [scielo.br]

  On examination, child was active on handling with mild cyanosis. Bilateral lower limbs noted swollen and indurated, more on the right side, extending from hip to foot. It was tender on touch. There was no erythema or areas of collection. [crimsonpublishers.com]

• 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]

• 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]

• Convulsions

  Side-effects of prostaglandins Common complications of short-term prostaglandin use are apnea, abdominal distension, bradycardia, fever, skin flushing, rash, hypotension, convulsions, diarrhea, necrotizing enterocolitis, and gastric outlet obstruction [radiopaedia.org]

  […] infection, or absence of a specialized hospital to transfer the patient to (all of these being common situation in developing countries), the infusion time can extend for weeks or months.4,5 Common side effects of prostaglandin therapy include apnea, fever, convulsions [scielo.br]

  […] infantile variant has clinical manifestations that correlate with the lack of marrow development (anemia and thrombocytopenia) and the lack of enlargement of bony remodeling (small cranial foramina result in cranial nerve dysfunction, hydrocephalus, convulsions [radiologykey.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]

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]