title: [Pycnodysostosis: a rare disease with frequent fractures].
abstract: Pycnodysostosis is a rare disease caused by a dysfunction of the osteoclasts due to a mutation in the cathepsin K gene. We present a case of a young adult patient with the above mentioned syndrome, who suffered an atypical fracture of the tibia after a low energy fall. Some bone changes that could have predisposed the fracture were observed when examined in the Emergency Department. Not long afterwards he suffered the same type of fracture in another tibia. Due to the conditions typical of the pycnodysostosis, the above mentioned fracture required an unconventional approach for this mid-shaft tibial fracture (osteosynthesis plate), combined with a longer consolidation time. The case was finally resolved satisfactorily.
authors.affiliation: Servicio de Cirugía Ortopédica y Traumatología, Hospital de León, León, España. Electronic address: jasanlazaro@gmail.com.
authors.forename: J A
authors.initials: JA
authors.lastname: Sánchez Lázaro
authors.affiliation: Gerencia de Atención Primaria de León, León, España.
authors.forename: L
authors.initials: L
authors.lastname: Linares Álvarez
mesh_terms: D000328:Adult; D056657:Cathepsin K / Q000235:genetics; D006801:Humans; D008297:Male; D010010:Osteoclasts / Q000473:pathology*; D058631:Pycnodysostosis / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D035583:Rare Diseases / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D013978:Tibial Fractures / Q000209:etiology*
chemical_list: D056657:Cathepsin K
keywords: Atypical fracture; Catepsina K; Cathepsin K; Fractura atípica; Osteoclast; Osteoclastos; Picnodisostosis; Pycnodysostosis