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Hypophosphatasia
Donna G. Blankenbaker, MD, FACR; Cheryl A. Petersilge, MD, MBA
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KEY FACTS

  • Imaging

    • Top Differential Diagnoses

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Abbreviations

            • Hypophosphatasia (HPP)
          • Definitions

            • Rare, inherited, systemic, metabolic disorder caused by mutations in ALPL gene that encodes tissue-nonspecific isoenzyme of alkaline phosphatase (ALP)

          IMAGING

          • General Features

            • Radiographic Findings

              • Ultrasonographic Findings

                • Bone Densitometry (DEXA, DXA)

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Microscopic Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                Selected References

                                1. Durrough C et al: Characterization of physical, functional, and cognitive performance in 15 adults with hypophosphatasia. Bone. 142:115695, 2021
                                2. Genest F et al: Bone mineral density and fracture risk in adult patients with hypophosphatasia. Osteoporos Int. 32(2):377-85, 2021
                                3. İnci A et al: Hypophosphatasia: is it an underdiagnosed disease even by expert physicians? J Bone Miner Metab. 39(4):598-605, 2021
                                4. Vogt M et al: Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children. Orphanet J Rare Dis. 15(1):212, 2020
                                5. Offiah AC et al: Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives. Pediatr Radiol. 49(1):3-22, 2019
                                6. Simon S et al: Hypophosphatasia: from diagnosis to treatment. Curr Rheumatol Rep. 20(11):69, 2018
                                7. Linglart A et al: Hypophosphatasia. Curr Osteoporos Rep. 14(3):95-105, 2016
                                8. Bianchi ML: Hypophosphatasia: an overview of the disease and its treatment. Osteoporos Int. 26(12):2743-57, 2015
                                9. Guguloth A et al: Prenatal diagnosis of hypophosphatasia congenita using ultrasonography. Ultrasonography. 35(1):83-6, 2015
                                10. Hofmann C et al: Recombinant enzyme replacement therapy in hypophosphatasia. Subcell Biochem. 76:323-41, 2015
                                11. Reibel A et al: Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. Orphanet J Rare Dis. 4:6, 2009
                                12. Mornet E: Hypophosphatasia. Orphanet J Rare Dis. 2:40, 2007
                                13. Uras I et al: Bilateral transverse (Bowdler) fibular spurs with hypophosphatasia in an adolescent girl. Korean J Radiol. 6(1):52-4, 2005
                                14. Ramage IJ et al: Hypophosphatasia. J Clin Pathol. 49(8):682-4, 1996
                                15. Shohat M et al: Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings. Pediatr Radiol. 21(6):421-7, 1991
                                16. Oestreich AE et al: Prominent transverse (Bowdler) bone spurs as a diagnostic clue in a case of neonatal hypophosphatasia without metaphyseal irregularity. Pediatr Radiol. 19(5):341-2, 1989
                                17. Kozlowski K et al: Hypophosphatasia. Review of 24 cases. Pediatr Radiol. 5(2):103-17, 1976
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Imaging

                                  • Top Differential Diagnoses

                                    • Pathology

                                      • Clinical Issues

                                        TERMINOLOGY

                                        • Abbreviations

                                          • Hypophosphatasia (HPP)
                                        • Definitions

                                          • Rare, inherited, systemic, metabolic disorder caused by mutations in ALPL gene that encodes tissue-nonspecific isoenzyme of alkaline phosphatase (ALP)

                                        IMAGING

                                        • General Features

                                          • Radiographic Findings

                                            • Ultrasonographic Findings

                                              • Bone Densitometry (DEXA, DXA)

                                                DIFFERENTIAL DIAGNOSIS

                                                  PATHOLOGY

                                                  • General Features

                                                    • Microscopic Features

                                                      CLINICAL ISSUES

                                                      • Presentation

                                                        • Demographics

                                                          • Natural History & Prognosis

                                                            • Treatment

                                                              Selected References

                                                              1. Durrough C et al: Characterization of physical, functional, and cognitive performance in 15 adults with hypophosphatasia. Bone. 142:115695, 2021
                                                              2. Genest F et al: Bone mineral density and fracture risk in adult patients with hypophosphatasia. Osteoporos Int. 32(2):377-85, 2021
                                                              3. İnci A et al: Hypophosphatasia: is it an underdiagnosed disease even by expert physicians? J Bone Miner Metab. 39(4):598-605, 2021
                                                              4. Vogt M et al: Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children. Orphanet J Rare Dis. 15(1):212, 2020
                                                              5. Offiah AC et al: Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives. Pediatr Radiol. 49(1):3-22, 2019
                                                              6. Simon S et al: Hypophosphatasia: from diagnosis to treatment. Curr Rheumatol Rep. 20(11):69, 2018
                                                              7. Linglart A et al: Hypophosphatasia. Curr Osteoporos Rep. 14(3):95-105, 2016
                                                              8. Bianchi ML: Hypophosphatasia: an overview of the disease and its treatment. Osteoporos Int. 26(12):2743-57, 2015
                                                              9. Guguloth A et al: Prenatal diagnosis of hypophosphatasia congenita using ultrasonography. Ultrasonography. 35(1):83-6, 2015
                                                              10. Hofmann C et al: Recombinant enzyme replacement therapy in hypophosphatasia. Subcell Biochem. 76:323-41, 2015
                                                              11. Reibel A et al: Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. Orphanet J Rare Dis. 4:6, 2009
                                                              12. Mornet E: Hypophosphatasia. Orphanet J Rare Dis. 2:40, 2007
                                                              13. Uras I et al: Bilateral transverse (Bowdler) fibular spurs with hypophosphatasia in an adolescent girl. Korean J Radiol. 6(1):52-4, 2005
                                                              14. Ramage IJ et al: Hypophosphatasia. J Clin Pathol. 49(8):682-4, 1996
                                                              15. Shohat M et al: Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings. Pediatr Radiol. 21(6):421-7, 1991
                                                              16. Oestreich AE et al: Prominent transverse (Bowdler) bone spurs as a diagnostic clue in a case of neonatal hypophosphatasia without metaphyseal irregularity. Pediatr Radiol. 19(5):341-2, 1989
                                                              17. Kozlowski K et al: Hypophosphatasia. Review of 24 cases. Pediatr Radiol. 5(2):103-17, 1976