Atypical femur fractures: a distinctive tract of adult hypophosphatasia.

ABSTRACT: Hypophosphatasia (HPP) is a congenital, rare and heterogeneous bone disorder, characterized by a deficit of calcified tissue mineralization, leading to skeletal deformities and osteomalacia in adults, rickets in infants and children, and fragility fractures and premature loss of dentition in children and adults. The disease is caused by a reduced or absent expression and activity of the tissue non-specific alkaline phosphatase (TNSALP) enzyme, derived from inactivating mutations of the alkaline phosphatase (ALPL) gene. Six different clinical variants have been reported, defined by the onset age and characterized by different degrees of severity. The adult form of HPP presents a wide range of clinical manifestations, many of which are non-specific, mild, and often overlapping with other met

SUBMITTER: Marini F 

PROVIDER: S-EPMC5762223 | biostudies-literature | 2017 Sep-Dec

REPOSITORIES: biostudies-literature