CAFFEY DISEASE Alternative titles; symbols INFANTILE (CONGENITAL)CORTICAL HYPEROSTOSIS PRENATAL CORTICAL HYPEROSTOSIS, LETHAL, INCLUDED Caffey disease is caused by mutation in the alpha-1 collagen type I gene (COL1A1; 120150). CLINICAL FEATURES Infantile cortical hyperostosis has somewhat unusual features for a hereditary disorder. It rarely if ever appears after 5 months of age and usually resolves spontaneously by 2 years of age; it is sometimes present at birth and has been identified by x-ray in the fetus in utero. The acute manifestations are inflammatory in nature, with fever and hot, tender swelling of involved bones (e.g., mandible, ribs). Despite striking radiologic changes in the acute stages, previously affected bones are often completely normal on restudy. However, Taj-Eldin and Al-Jawad (1971) described a case followed since infancy with recurrences documented up to 19 years of age (1971). (Incontinentia pigmenti (308300) is another familial condition in which 'active' lesions at birth and early in life may leave little or no residue.) Pickering and Cuddigan (1969) suggested that vascular occlusion secondary to thrombocytosis may be involved in the pathogenesis. X-ray findings in 3 members of the family were reported by Pajewski and Vure (1967).

J Clin Invest. 2005 May 2; 115(5): 1142¨C1144Caffey disease: an unlikely collagenopathy Francis H. Glorieux Departments of Surgery, Pediatrics, and Human Genetics, McGill University, and Genetics Unit, Shriners Hospital for Children, Montr¨¦al, Quebec, Canada. Infantile cortical hyperostosis (also known as Caffey disease) is characterized by hyperirritability, acute inflammation of soft tissues, and profound alterations of the shape and structure of the underlying bones, particularly the long bones, mandible, clavicles, or ribs. In this issue of the JCI, Gensure et al. undertook fine mapping of the genetic locus for this disease in a large kindred of individuals with the autosomal dominant form of the condition. The authors found a novel missense mutation in COL1A1, the gene encoding the ¦Á1 chain of type I collagen, in all affected individuals in 3 discrete pedigrees. This is a surprising finding, as all other reported mutations affecting the synthesis of type I collagen lead to conditions such as osteogenesis imperfecta and Ehlers-Danlos syndrome, in which quantitative or qualitative defects in type I collagen synthesis give rise to bone fragility and/or connective tissue hyperextensibility. The deleterious effect of the mutation on collagen fibril morphology is demonstrated; however, the precise functional link between the reported missense mutation and the localized inflammation and hyperostosis seen in Caffey disease awaits future studies.

Also known as: Caffey's syndrome I Caffey-Smyth syndrome Smyth-Caffey syndrome De Toni-Caffey syndrome De Toni-Caffey-Silverman syndrome De Toni-Silverman-Caffey syndrome Roske-De Toni-Caffey syndrome Roske-De Toni-Caffey-Silverman syndrome Roske-De Toni-Caffey-Smyth syndrome Description: Probably familial disease of infants affecting skeleton and adjacent tissues. It is characterized by fever, irritability, swelling of soft tissues, and cortical bone thickening. The mandible is usually involved, less commonly the clavicle, tibia, ulna, femur ribs, humerus, and fibula with periodic proliferation in the first 3 months of life. Jaw and forearm are the most common sites of thickening. Tenderness and movement limitation of affected parts. Puffy jaws and cheeks give the face a characteristic appearance. Also ocular signs. Although cases have been identified in utero, the syndrome may usually be recognized during the first six months of life. Spontaneous healing within few weeks. Etiology unknown. Inheritance is autosomal domninant.

Caffey's disease or Infantile cortical hyperostosis or Roske-De Toni-Caffey-Smyth syndrome or Caffey De Toni Silvermann syndrome. "A disease of young infants characterized by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remission and exacerbation. (Dorland, 27th ed)" Features Miscellaneous syndromes Hyperostosis Symptoms and Signs Genu varum X-ray abnormalities Periosteal reaction

Infantile cortical hyperostosis D Suri, D Dayal and M Singh Advanced Pediatrics Center, -160012, India; Keywords: Caffeys disease A 14 week old male infant presented with multiple tender bony swellings involving the legs, forearm, and lower jaw since 1 month of age (fig 1). No history of fever, trauma, or child abuse was forthcoming. He was irritable and had difficulty in feeding since the appearance of the jaw swelling. Bowing of the lower limbs with pseudoparalysis was observed. There was no response to adequate vitamin C supplements received prior to hospitalisation. Investigations showed mild increase of ESR, normal blood biochemistry, sterile cultures, and negative parental serology for syphilis. Bone radiographs revealed periosteal elevation, new bone formation, and cortical thickening involving the diaphyses of bilateral tibia, ulna, and femur (fig 2). The characteristic triad of irritability, swelling, and bone lesions, age at presentation, and mandibular involvement clinched the diagnosis. Archives of Disease in Childhood 2005;90:711

Indian Pediatrics 2005; 42:64-66 Abstract: Infantile cortical hyperostosis (Caffey disease) is characterized by radiological evidence of cortical hyperostosis, soft tissue swellings, fever and irritability. We report a case of Caffey disease highlighting its presentation as pyrexia of unknown origin, appearance on radionuclide bone scintigraphy and our unsatisfactory experience of treating it with Ibuprofen, a prostaglandin inhibitor.

URL http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&term=%22Hyperostosis%2C+Cortical%2C+Congenital%22%5BMAJR%5D

Caffey disease