Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

Pycnodysostosis (PYCD) is a rare recessive inherited skeletal disease, characterized by short stature, brittle bones, and recurrent fractures, caused by variants in the Cathepsin K encoding gene that leads to impaired osteoclast-mediated bone resorption. Hypophosphatasia (HPP) is a dominant or reces...

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Bibliographic Details
Published in:Calcified tissue international 2019-12, Vol.105 (6), p.681-686
Main Authors: Hepp, Nicola, Frederiksen, Anja Lisbeth, Dunø, Morten, Jørgensen, Niklas Rye, Langdahl, Bente, Vedtofte, Poul, Hove, Hanne B., Hindsø, Klaus, Jensen, Jens-Erik Beck
Format: Article
Language:English
Subjects:
Alkaline phosphatase
Apnea
Biochemical analysis
Biochemistry
Biomedical and Life Sciences
Bone growth
Bone healing
Bone resorption
Case Reports
Cathepsin K
Cell Biology
Coexistence
Endocrinology
Fractures
Hypophosphatasia
Hypoplasia
Life Sciences
Mineralization
Nonunion
Orthopedics
Osteogenesis
Osteogenesis imperfecta
Phenotypes
Pycnodysostosis
Sleep
Sleep disorders
Teeth
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Summary:Pycnodysostosis (PYCD) is a rare recessive inherited skeletal disease, characterized by short stature, brittle bones, and recurrent fractures, caused by variants in the Cathepsin K encoding gene that leads to impaired osteoclast-mediated bone resorption. Hypophosphatasia (HPP) is a dominant or recessive inherited condition representing a heterogeneous phenotype with dental symptoms, recurrent fractures, and musculoskeletal problems. The disease results from mutation(s) in the tissue non-specific alkaline phosphate encoding gene with reduced activity of alkaline phosphatase and secondarily defective mineralization of bone and teeth. Here, we present the first report of a patient with the coexistence of PYCD and HPP. This patient presented typical clinical findings of PYCD, including short stature, maxillary hypoplasia, and sleep apnoea. However, the burden of disease was caused by over 30 fractures, whereupon most showed delayed healing and non-union. Biochemical analysis revealed suppressed bone resorption and low bone formation capacity. We suggest that the coexistence of impaired bone resorption and mineralization may explain the severe bone phenotype with poor fracture healing.
ISSN:0171-967X
1432-0827
DOI:10.1007/s00223-019-00605-1