International Research Journal of Medical and Pharmaceutical Sciences (IRJMPS)

SHEDDING LIGHT ON OSTEOPETROSIS: A RARE CASE STUDY INVESTIGATING ORAL AND RADIOGRAPHIC ASPECTS

Authors

  • Dr. Fahad Ahmed Al-Johany Professor, Oral Medicine and Diagnostic Sciences Department, College of Dentistry, King Saud University, Riyadh, Saudi Arabia
  • Dr. Amal Khalid Al-Hazmi Resident, Saudi Board in Oral Medicine and Oral Pathology, College of Dentistry, King Saud University, Riyadh, Saudi Arabia

Abstract

Osteopetrosis, often referred to as "marble bone disease" or "Albers-Schönberg disease," is a rare hereditary skeletal disorder characterized by a substantial increase in bone density and a reduction in marrow spaces. This condition results from a defect in bone remodeling due to the impaired functioning of osteoclasts, leading to a diminished bone turnover. Osteopetrosis manifests in three primary clinical forms, including a severe malignant infantile autosomal recessive form, an intermediate mild autosomal recessive form, and a benign/adult osteopetrosis with autosomal dominant inheritance. While the latter exhibits fewer symptoms, the first two types have a dismal prognosis, typically manifesting within the first decade of life and leading to early mortality. Infants affected by osteopetrosis may experience a range of clinical symptoms, including impaired hematopoiesis, hepatosplenomegaly, macrocephaly, visual impairment, bone fractures, and hypocalcemia. Although rare, involvement of the endocrine system, except for secondary hyperparathyroidism, has also been reported.

Keywords:

Osteopetrosis, Marble Bone Disease, Albers-Schönberg Disease, Hereditary Skeletal Disorder Osteoclast

Published

2023-10-19

How to Cite

Al-Johany, F. A., & Al-Hazmi, A. K. (2023). SHEDDING LIGHT ON OSTEOPETROSIS: A RARE CASE STUDY INVESTIGATING ORAL AND RADIOGRAPHIC ASPECTS. International Research Journal of Medical and Pharmaceutical Sciences (IRJMPS), 7(3), 23–29. Retrieved from https://zapjournals.com/Journals/index.php/Pharmaceutical/article/view/1188

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