pycnodysostosis
Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by dense, brittle bones, short stature, and distinctive craniofacial and dental abnormalities. It results from loss-of-function mutations in the CTSK gene, which encodes cathepsin K, a protease essential for osteoclast-mediated bone resorption and normal bone remodeling.
Pathophysiology involves defective bone resorption, leading to generalized osteosclerosis with impaired remodeling. Although bones appear overly
Diagnosis is suggested by the combination of clinical features and characteristic radiographs and is confirmed by
Management is supportive and multidisciplinary. There is no cure. Care focuses on fracture prevention and safe