Caffey Disease

Alternative Names

  • Infantile Cortical Hyperostosis
  • Prenatal Cortical Hyperostosis, Lethal
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

114000

Mode of Inheritance

Autosomal dominant

Gene Map Locus

17q21.33

Description

Infantile cortical hyperostosis, also known as Caffey disease, is a self-limited disorder that affects infants before 6 months of age and subsides by the age of 2 years. It causes bone changes, soft tissue swelling, and irritability. The typical radiological feature is a marked periosteal new bone formation surrounding the diaphysis of long bones. The bony changes usually resolve completely but sometimes, when paired bones such as the tibia and fibula or radius and ulna, have been affected, a long-term complication of cross-fusion may arise. Similar fusions may occur when adjacent ribs have been involved and may result in a progressive thoracic scoliosis with respiratory compromise. Caffey's disease may also result in facial and mandibular asymmetry. It is estimated that three of every 1000 infants younger than six months of age are affected.

Caffey disease can be inherited in an autosomal dominant manner. Genome-wide mapping of a large family with Caffey disease revealed linkage to chromosome 17q21. Fine mapping reduced the linked region to a 2.3-Mb interval between markers D17S1868 and D17S1877. Collagen, Type I, Alpha-1 (COL1A1) gene was identified to cause Caffey disease and it encodes the main protein present in bones, skin, ligaments, tendons and most other connective tissues.

Epidemiology in the Arab World

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Other Reports

Kuwait

Fahmy (2006) described a case of an infant with Caffey disease. The 25-day old boy presented with fullness of the left supraclavicular region and swelling of the left collar bone. There was no family history of a similar condition, and all three siblings were normal. The baby appeared irritable. Radiological examination showed hypertrophic callus formation of the left clavicle, and a diagnosis of healing fracture clavicle was made. The swelling continued to get larger, and the baby was readmitted. Blood test showed elevated ESR, C-reactive protein, and WBC count with predominant lymphocytosis. CT scan showed uniform bone expansion of the left clavicle and scapula, cortical thickening and periosteal reaction with non-enhancing soft tissue mass. The swelling continued to grow and reached an enormous size, before spontaneously resolving after a period of eight months. There was no relapse or recurrence on follow-up.

[Fahmy MAL. Caffey silverman disease Case report and literature review. Kuwait Med J. 2006; 38(1):49-52.]

Saudi Arabia

Lardhi (1998) examined a boy suffering from Caffey's disease. The boy showed the symptoms of Caffey's disease in the age of 7 weeks after receiving his first DPT (Diphtheria, Pertussis, and Tetanus) shot and the second Hepatitis B vaccine. He displayed fever, irritability, and tender swelling of soft tissues with cortical hyperostosis of underlying bones. The self-limiting nature of the disease in the boy when he was 15 months confirmed the diagnosis of Caffey's disease.

[Lardhi AA. Infantile cortical hyperostosis - Caffey's disease. Emirates Med J. 1998; 16(2):113-5.]

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