COL1A1 Mutation in an Indian Child with Caffey Disease

Abstract

Caffey disease or infantile cortical hyperostosis is a rare skeletal disorder with both sporadic and familial occurrence. The autosomal dominant familial form has been found to be a collagenopathy. The case being reported is a 7- month-old Indian boy with Caffey disease who was found to have the R1014C heterozygous mutation in the COL1A1 gene. This is the first mutation report of an Indian case with Caffey disease.

Familial mutation in Caffey disease with reduced penetrance: A case report

“…Caffey disease can be misdiagnosed or diagnosis may be delayed because of the wide range of diseases that it can mimic, including child abuse, trauma, syphilis, scurvy, hyper vitaminosis A, prostoglandin-E1 administration, Ewing sarcoma, and metastatic bone tumors 3,6,13 . In our case, trauma and child abuse were excluded because the patient's history and physical examination was normal.…”

“…Caffey disease is a self-limiting disorder that resolves on its own without treatment, usually within six to nine months 3,13 . Management of Caffey disease is essentially palliative, however, in symptomatic and painful cases non-steroidal anti-inflammatory drugs such as ibuprofen, indomethacin, or naproxen can be used 3,9,14 .…”

Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease)

“…This finding places ICH within the group of type 1 collagen-related conditions, such as osteogenesis imperfecta and Ehlers-Danlos syndrome. 5 Following this report, patients with ICH expressing the COL1A1 mutation were reported worldwide, [6][7][8][9][10][11] and even one lethal prenatal genetic case of ICH was described. 12 Interestingly, in several ICH patients, this previously known mutation in COL1A1 was not identified nor were other novel mutations found for this gene.…”

Prenatal Caffey disease (prenatal cortical hyperostosis): severe forms with favorable outcome

“…Postnatal diagnosis is more frequent and is based on the radiologic findings and the typical evolution of the 1,5 Mutation of the alpha 1 chain of type I Collagen (COL1A1) 6 was detected in a minority of PCH cases described in the literature. 1,2,7,8 Indeed, testing this is not recommended during the prenatal period and was not realized in our two cases.…”

“…Mutation of the alpha 1 chain of type I Collagen (COL1A1) was detected in a minority of PCH cases described in the literature . Indeed, testing this is not recommended during the prenatal period and was not realized in our two cases.…”