Rafik Hariri University Hospital

Autosomal Dominant Cutis Laxa type 3 in a Lebanese female child: a case report and literature review about an exceptionally rare genetic disease

Abstract Cutis Laxa is a heterogeneous group of diseases characterized by a loose, wrinkled and prematurely aged skin appearance and have been documented to be transmitted through autosomal recessive, autosomal dominant, or X-linked patterns. With an estimated prevalence of less...

Cherubism in an 11-Year-Old Boy: A Longitudinal Case Report With Clinical, Radiographic, and Histopathologic Insights

Cherubism is a rare, benign, autosomal dominant disorder characterized by bilateral painless expansion of the mandible and maxilla. It is a giant cell-rich jaw lesion associated with mutations in the SH3BP2 gene, leading to abnormal osteoclast activation and bone remodeling. Cher...