Introduction Case Presentation Discussion Conclusions Adult variants of osteopetrosis and fluorosis have similar symptoms and radiological findings including an increased bone mineral density. However, the underlying pathophysiology of increased bone density distinguishes osteopetrosis from fluorosis. Osteopetrosis is characterized by decreased bone resorption in contrast to fluorosis which is characterized by increased bone formation. Fluorosis can result in reversible muscu

Abstract

There are multiple etiologies of increased bone density, including osteopetrosis and fluorosis. Osteopetrosis can either be a malignant autosomal recessive condition found in children or a benign autosomal dominant adult variant; both of which are characterized by decreased bone resorption. In contrast, fluorosis is characterized by increased bone formation secondary to chronic fluoride intoxication, but with a similar clinical manifestations to osteopetrosis.

A 70-year-old lady with generalized joint aches, stiffness as well as fatigue, was found to have high bone mineral density and alarmingly high fluoride levels. The patient was found to be drinking fluoride containing water from an untreated local well for many years.

Fluorosis results in increased bone mineral density and disease progression correlates with length of exposure. Fluorosis can result in reversible musculocutaneous symptoms and radiological findings. However, severe chronic cases may develop irreversible neurologic manifestations. Urinary fluoride testing is the screening modality of choice, and the key component of management is avoidance of the source of fluoride intoxication as well as monitoring of urinary fluoride levels.


*Full text article online at https://www.cureus.com/articles/63394-a-case-of-fluorosis-fluoride-induced-osteopetrosis#abstract


 

Excerpt:

Conclusions

Adult variants of osteopetrosis and fluorosis have similar symptoms and radiological findings including an increased bone mineral density. However, the underlying pathophysiology of increased bone density distinguishes osteopetrosis from fluorosis. Osteopetrosis is characterized by decreased bone resorption in contrast to fluorosis which is characterized by increased bone formation. Fluorosis can result in reversible musculocutaneous symptoms and radiological findings and disease progression correlates with the length of exposure to fluoride. However, severe chronic cases may develop irreversible neurologic involvement. Urinary fluoride testing is the most accurate screening modality, and the key component of management is the removal of the source of fluoride intoxication as well as monitoring of urinary fluoride levels.


References

  1. Stoker DJ: Osteopetrosis. Semin Musculoskelet Radiol. 2002, 6:299-306. 10.1055/s-2002-36728
  2. Carolino J, Perez JA, Popa A: Osteopetrosis. Am Fam Physician. 1998, 57:1293-1296.
  3. Stark Z, Savarirayan R: Osteopetrosis. Orphanet J Rare Dis. 2009, 4:5. 10.1186/1750-1172-4-5
  4. Bollerslev J, Andersen PE Jr: Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone. 1988, 9:7-13. 10.1016/8756-3282(88)90021-X
  5. de Vernejoul MC: Fluorosis, osteopetrosis, and ectopic calcification. Curr Opin Rheumatol. 1990, 2:44-46. 10.1097/00002281-199002010-00008
  6. Meunier PJ, Sebert JL, Reginster JY, et al.: Fluoride salts are no better at preventing new vertebral fractures than calcium-vitamin D in postmenopausal osteoporosis: the FAVOStudy. Osteoporos Int. 1998, 8:4-12. 10.1007/s001980050041
  7. Rosen CJ: Fluoride and fractures: an ecological fallacy. Lancet. 2000, 355:247-248. 10.1016/S0140-6736(99)00458-4
  8. Grandjean P, Thomsen G: Reversibility of skeletal fluorosis. Br J Ind Med. 1983, 40:456-461. 10.1136/oem.40.4.456
  9. Fisher RL, Medcalf TW, Henderson MC: Endemic fluorosis with spinal cord compression: a case report and review. Arch Intern Med. 1989, 149:697-700. 10.1001/archinte.1989.00390030143028
  10. Singh A, Jolly SS, Bansal BC, Mathur CC: Endemic fluorosis: epidemiological, clinical and biochemical study of chronic fluorine intoxication in Panjab (India). Medicine. 1963, 42:229-246.
  11. Hodge HC, Smith FA: Occupational fluoride exposure. J Occup Med. 1977, 19:12-39.
  12. Sauerbrunn BJ, Ryan CM, Shaw JF: Chronic fluoride intoxication with fluorotic radiculomyelopathy. Ann Intern Med. 1965, 63:1074-1078. 10.7326/0003-4819-63-6-1074
  13. Zenz C: Occupational Medicine. Principles and Practical Applications. Year Book Publishers, Chicago; 1988.