A Unique Case of Aggressive Central Giant Cell Granuloma in a 10-Year-Old Boy With 16p13.11 Microdeletion Syndrome-Reference-Cited by-同舟云学术

A Unique Case of Aggressive Central Giant Cell Granuloma in a 10-Year-Old Boy With 16p13.11 Microdeletion Syndrome

Published:2022-01 Issue: Volume:10 Page:232470962211231
ISSN:2324-7096
Container-title:Journal of Investigative Medicine High Impact Case Reports
language:en
Short-container-title:Journal of Investigative Medicine High Impact Case Reports

Author:

Shum Betty J.¹,Kim Mimi S.¹²³^ORCID,Kondra Katelyn⁴,Hammoudeh Jeffrey A.⁴,Strom Charles⁵,Ryabets-Lienhard Anna¹²³

Affiliation:

1. Center for Endocrinology, Diabetes, and Metabolism, Children’s Hospital Los Angeles, CA, USA

2. The Saban Research Institute at Children’s Hospital Los Angeles, CA, USA

3. University of Southern California, Los Angeles, USA

4. Division of Plastic and Maxillofacial Surgery, Children’s Hospital Los Angeles, CA, USA

5. Department of Medical Genetics, Children’s Hospital Los Angeles, CA, USA

Abstract

Central giant cell granuloma (CGCG) is a rare disease characterized by sporadic, benign, intraosseous mandibular lesions of unknown etiology. Histologically, these lesions are indistinguishable from brown tumors of hyperparathyroidism and cherubism, and occasionally have been associated with different syndromes raising a question for genetic etiology. The CGCG has varied presentation ranging from nonaggressive and indolent to aggressive, destructive, and recurrent, often posing diagnostic and therapeutic challenges. Herein, we present the first case of a 10-year-old boy with CGCG and 16p13.11 microdeletion syndrome, highlight the diagnostic challenges inherent to this heterogeneous disorder, and discuss the genetics and treatment approaches of these complex lesions.

Publisher

SAGE Publications

Subject

Safety Research,Safety, Risk, Reliability and Quality,Epidemiology

Link

http://journals.sagepub.com/doi/pdf/10.1177/23247096221123146

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