Abstract
Hypophosphatasia (HPP) is rare disease caused by insufficient production of alkaline phosphatase. Main symptoms are skeletal demineralisation and severe extra-skeletal complications including dental symptoms.
Dental manifestation is characterized by early loss of primary frontal teeth. Diagnosis is based on low serum ALP.
Enzymatic substitution with recombinant ALP is available from 2015. X-linked hypophosphatemia (XLH) is the most common form of rickets and osteomalacia.
The disease manifests by grow retardation, deformities of lower limbs, bone and muscular pain. Dental manifestation is dentin dysplasia, followed by formation of periapical abscesses of intact teeth, mainly in primary dentition.
A humanized monoclonal antibody for FGF23 (burosumab) is the promising treatment for XLH.