Eur J Musculoskel Dis 2021 Gen-Apr;10(1):37-41
LETTER TO THE EDITOR
BRITTLE BONE DISEASE
E. Qorri1,* and P. Daliu1
1Dental School, Albanian University, Tirana, Albania
*Correspondence to:
Erda Qorri, MD
Dean Dental School, Albanian University,
Tirana, Albany
e-mail: e.qorri@albanianuniversity.edu.al
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Received: 18 October 2020 Copyright: |
ISSN: 2038-4106 This publication and/or article is for individual use only and may not be further reproduced without written permission from the copyright holder. Unauthorized reproduction may result in financial and other penalties. Disclosure: All authors report no conflicts of interest relevant to this article. |
ABSTRACT
Osteogenesis imperfecta (OI), sometimes called brittle bone disease (BBD), is an inherited genetic illness marked by extreme bone fragility or brittleness. Families can pass on the BBD to their offspring. A mutation in the gene that produces collagen causes it. When type I collagen levels are lowered, bones become brittle and more vulnerable to fractures. BBD types II, III, and IV results from mutations in the COL1A1 and COL1A2 genes. Osteoid synthesis is typically inadequate due to abnormalities such as reduced collagen type I production or aberrant collagen secretion. As a result, both intramembranous, as well as enchondral ossification are impacted. The usual histological features are a large, uneven physics with disordered proliferative and hypertrophy zones and a calcified thinning zone. Other features include sparse spongiosa, bone resorption, and accelerated bone turnover. For the development and evaluation of treatment in people with heritable illnesses, a thorough clinical description containing the knowledge of precise molecular genetic aetiology is the starting point. This article aims to cover the histology, diagnosis, and therapy of three types of BBD to make it easier to assess the situation and suggest fresh alternatives to surgery.
KEYWORDS: Brittle bone disease, Osteogenesis imperfect, clinical manifestation, bone, resorption, fracture
