Infantile cortical hyperostosis (Caffey disease): A review
ABSTRACT Face swelling in infants may have several causes including infantile cortical hyperostosis (Caffey disease), an inflammatory process with swelling of soft tissues and periosteal hyperostosis of some bones. New insights show that this self-limited condition is collagen I-related.
Collagen I is the most important component of bone and dentine. We reviewed literature to lighten this new collagenopathy, the first one with a self-regressive course.
After describing a typical case and the clinical and radiologic features of the disease, we discuss the pathogenic pathways and management care for oral professionals.
Oral practitioners could be asked for differential diagnosis. Surgeons could be queried for surgical correction of the bony deformity, especially of facial and mandibular asymmetry.
[Show abstract] [Hide abstract]
ABSTRACT: Caffey disease, also known as infantile cortical hyperostosis, is a rare bone disease characterized by acute inflammation with swelling of soft tissues and hyperostosis of the outer cortical surface in early infancy. The common heterozygous mutation of the COL1A1 gene, p.Arg1014Cys, has been reported in patients with Caffey disease. However, its pathogenesis remains to be elucidated, and the reason for the incomplete penetrance and transient course of the disease is still unclear. In the present study, we performed mutation analysis of the COL1A1 and COL1A2 genes and measured bone mineral density in two Japanese familial cases of Caffey disease. The index case and two clinically healthy members of one family carry the common heterozygous mutation; in contrast, no mutation in COL1A1 or COL1A2 was identified in the affected members of the second family. In addition, we found normal bone mineral density in adult patients of both families who have had an episode of cortical hyperostosis regardless of the presence or absence of the common p.Arg1014Cys mutation. Conclusion: The results reveal that Caffey disease is genetically heterogeneous and that affected and unaffected adult patients with or without the common COL1A1 mutation have normal bone mineral density.European Journal of Pediatrics 01/2014; 173(6). DOI:10.1007/s00431-013-2252-8 · 1.98 Impact Factor
Article: Syndromes Affecting Bone.Atlas of the oral and maxillofacial surgery clinics of North America 09/2014; 22(2):111-122. DOI:10.1016/j.cxom.2014.06.002
[Show abstract] [Hide abstract]
ABSTRACT: The autosomal dominant form of Caffey disease is a largely self-limiting infantile bone disorder characterized by acute inflammation of soft tissues and localized thickening of the underlying bone cortex. It is caused by a recurrent arginine-to-cysteine substitution (R836C) in the α1(I) chain of type of I collagen. However, the functional link between this mutation and the underlying pathogenetic mechanisms still remains elusive. First, it remains to be established as to how a point-mutation in type I collagen leads to a cascade of inflammatory events and spatio-temporally limited hyperostotic bone lesions, and second, the contribution of the structural and inflammatory components to the different organ-specific manifestations in Caffey disease. In this review we attempt to shed light on these questions based on the current understanding of other mutations in type I collagen, their role in perturbing collagen biogenesis, and consequent effects on cell-cell and cell-matrix interactions.Bone 12/2013; 60. DOI:10.1016/j.bone.2013.12.030 · 4.46 Impact Factor