[Familial childhood cortical hyperostosis].

Area of Science:

• Pediatric genetics
• Rare disease research
• Autosomal dominant inheritance

Background:

• Caffey's disease (infantile cortical hyperostosis) is a rare disorder of unknown etiology.
• Familial occurrence of Caffey's disease suggests a genetic component.

Observation:

• Three new cases of Caffey's disease were identified within a single family across two generations.
• A literature review identified 35 additional families (143 patients) with familial Caffey's disease.

Findings:

• The familial pattern supports an autosomal dominant inheritance pattern with incomplete penetrance and variable expressivity.
• Human Leukocyte Antigen (HLA) system analysis in the affected family revealed no shared haplotypes, suggesting no linkage to these genes.

Implications:

• Understanding the genetic basis of Caffey's disease is crucial for diagnosis and genetic counseling.
• Further research is needed to identify the specific genes responsible for Caffey's disease and its inheritance pattern.