2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Cherubism in Two Generations of an African American Family

Pdf Summary

Cherubism is a rare childhood bone disease characterized by cystic growths in the mandible and maxilla. The condition typically starts in early childhood and regresses by adulthood. Symptoms may include pain, problems with tooth development, breathing, speech, and swallowing. Cherubism is caused by mutations in the SH3BP2 gene and is inherited in an autosomal dominant manner. The de novo rate is unknown. This case report focuses on an African American family with two generations affected by cherubism. The patient, a 5-year-old boy, has undergone multiple surgeries and is currently receiving off-label treatment with denosumab, which has been successful in slowing the growth of the lesions. He also has severe hemophilia A and is being evaluated for symptoms of autism. The patient's mother also has a history of jaw dysplasia and is presumed to be a carrier of the same SH3BP2 mutation but has declined testing. The family's willingness to participate in this work has helped broaden knowledge and awareness of cherubism in diverse populations. Treatment for cherubism may involve surgical debulking of the lesions and, depending on the severity, denosumab therapy to inhibit bone resorption. Individualized and realistic surgical plans are necessary due to the potential for recurrence or progression of the lesions. The use of denosumab inhibits bone turnover and reduces bone resorption and proliferation.

Asset Subtitle

Presenting Author - Emily Boothe, MS, CGC; Co-Author - Ian C. Hoppe, MD;

Meta Tag

Bone/Joint Abnormalities

Dysmorphology

Genetic Testing

Co-Author Ian C. Hoppe, MD

Presenting Author Emily Boothe, MS, CGC

Keywords

Cherubism

childhood bone disease

cystic growths

mandible

maxilla

SH3BP2 gene

denosumab

hemophilia A

autism symptoms

surgical debulking