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Congenital Cortical Hyperostoses

Caffey disease


Presentation

  • Patients present with major angulation of the long bones, generalized symmetrical involvement of the skeleton, and polyhydramnios.[emedicine.medscape.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]
  • ICH usually presents within 6 months of life but can also present at birth.[crimsonpublishers.com]
  • Two cases are presented of congenital Caffey's disease in premature babies. The first baby was hydropic at birth and had cortical hyperostosis involving the mandible and long bones of right upper limb and both lower limbs.[ncbi.nlm.nih.gov]
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]
  • It is characterized by a triad of systemic symptoms (irritability and fever), soft tissue swelling and underlying cortical bone thickening.[omjournal.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]
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]
Colic
  • Brachydactyly, Hydrocephaly, and Microphthalmia Chondrodysplasia, Megarbane-Dagher-Melki Type chondrodysplasia-pseudohermaphroditism syndrome cleidocranial dysplasia Cleidorhizomelic Syndrome Cloverleaf Skull Micromelia Thoracic Dysplasia CODAS Syndrome Colic[rgd.mcw.edu]
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 Leukoencephalopathy with Metaphyseal[rgd.mcw.edu]
Macrocephaly
  • Mesomelic Dysplasia Laplane Fontaine Lagardere Syndrome Larsen Syndromes Leri-Weill dyschondrosteosis Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density Leukoencephalopathy with Metaphyseal Chondrodysplasia 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]

Workup

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

  • 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]

Prognosis

  • 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]
  • Prognosis [ edit ] Infantile cortical hyperostosis is a self-limited condition, meaning that the disease resolves on its own without treatment, usually within 6–9 months.[en.wikipedia.org]

Etiology

  • - 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]
  • 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]
  • A neuropathic etiology has been hypothesized due to the dermatomal pattern of hyperostosis.(McCarthy & Frassica. Pathology of Bone and Joint Disorders. Philadelphia: W.B. Saunders company, 1998.)[orthopaedicsone.com]
  • Discussion Etiology and demographics Physiological periostitis is a well documented radiological finding in both preterm and term babies between 1- 6 months of age group and is more commonly seen among 1 to 4 months old infants. [1], [2] The incidence[wajradiology.org]

Epidemiology

  • 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]
  • […] to congenital metabolic disorders Mucopolysaccharidoses Mucolipidoses Lipid storage diseases Part Thirteen: Neoplastic conditions General principles of neoplasia Definition Characteristics of benign and malignant tumors Function of neoplastic cells Epidemiology[corp.credoreference.com]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • Subperiosteal hematoma of the iliac bone: Imaging features of acute and chronic stages with emphasis on pathophysiology. Skeletal Radiol 2012;41:667-75. 20. Malghem J, Maldague B, Claus D, Clapuyt P.[ijri.org]

Prevention

  • 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]

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