Caffey Disease

Excerpt

Clinical characteristics: Caffey disease is characterized by massive subperiosteal new bone formation (usually involving the diaphyses of the long bones as well as the ribs, mandible, scapulae, and clavicles) typically associated with fever, soft-tissue swelling, and pain, with onset between birth and five months and spontaneous resolution by age two years. Recurrence of bone hyperostosis, fever, soft-tissue swelling, and pain can occur later in life. Adults with a history of Caffey disease in childhood may have joint laxity, skin hyperextensibility, hernias, short stature, and an increased risk for bone fractures and/or deformities.

Diagnosis/testing: The diagnosis of Caffey disease is established in a proband with typical clinical and radiographic findings; identification of a heterozygous COL1A1 pathogenic variant associated with Caffey disease on molecular genetic testing can confirm the diagnosis.

Management: Treatment of manifestations: Anti-inflammatory agents, antipyretics, and analgesics can be used in the short term to decrease swelling and fever and to relieve pain; standard treatments for joint hypermobility, skin hyperextensibility, and hernias.

Surveillance: Annual evaluation of stature, fracture history, joint extensibility, and hernias throughout childhood. Consider assessment of bone mineral density in adults with a history of recurrent fractures.

Genetic counseling: Caffey disease is inherited in an autosomal dominant manner. Some individuals diagnosed with Caffey disease have a parent who had Caffey disease in childhood; others have the disorder as the result of a de novo pathogenic variant. The proportion of individuals with Caffey disease caused by a de novo pathogenic variant is unknown. Each child of an individual who had Caffey disease in childhood has a 50% chance of inheriting the pathogenic variant. Once a molecular diagnosis has been established in an affected family member, prenatal and preimplantation genetic testing are possible.