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Review
. 2020 Jul 5;61(3):260-270.
doi: 10.3325/cmj.2020.61.260.

Current knowledge on the genetic background of developmental dysplasia of the hip and the histomorphological status of the cartilage

Affiliations
Review

Current knowledge on the genetic background of developmental dysplasia of the hip and the histomorphological status of the cartilage

Ivan Bohaček et al. Croat Med J. .

Abstract

Developmental dysplasia of the hip (DDH) represents a morphological abnormality characterized by the incongruity of femoral head and acetabulum. It ranges from mild dysplastic changes to complete dislocation. DDH has been associated with several hereditary and environmental risk factors, which could explain the incidence variability among different countries. Numerous genes may be involved in the disease etiology and progression. However, there are controversies in the literature regarding some of these genes. DDH-induced secondary osteoarthritis (OA) is characterized by changes in the macromolecule content of the cartilage and the expression of cartilage degradation markers. In addition, it exhibits a pattern of specific histological changes, with several reported differences between primary and DDH-induced secondary OA. The articular cartilage of patients with DDH shows specific radiological characteristics, including changes visible already in infancy, but also at pre-arthritic stages, early stages of OA, and in fully developed DDH-induced secondary OA. Although DDH has been extensively researched in different disease stages, the etiology of the disorder still remains uncertain. This review focuses on the current knowledge on the histomorphological status of the cartilage and the genetic background of DDH.

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Figures

Figure 1
Figure 1
Normal articular cartilage and articular cartilage in developmental dysplasia of the hip (DDH) at different stages of osteoarthritis (OA). (A) Normal articular cartilage. The cartilage surface is smooth, chondrocytes and collagenous fibrils are organized into the superficial, middle, and deep zone. A tidemark clearly separates the deep from the calcified zone. Proteoglycans are present in all three cartilage zones. The subchondral bone plate and the trabeculae are thin. (B) Non-OA DDH. The cartilage surface is smooth, cartilage thickness is increased, and chondrocyte count is high. Collagenous fibrils are rare compared with normal cartilage. (C) Early-stage primary OA. The cartilage surface is intact, but superficial fibrillation is visible at some regions of the surface. Chondrocytes and collagenous fibrils are organized, but are fewer in number. Non-viable cells are visible, especially in the superficial zone. The color fading in the upper third of the cartilage indicates the loss of proteoglycans. Bone trabeculae are thicker. (D) Early-stage DDH-induced secondary OA. The cartilage surface is smooth. Total cell count is unchanged, but the incidence of cell death is high, especially in the superficial zone. Collagenous fibrils are rare in comparison with normal cartilage. Some proteoglycan loss is visible at the upper third of the cartilage. (E) Late-stage primary OA. The cartilage surface is eroded and fibrillated. The chondrocyte count and the number of viable cells are significantly decreased. Chondrocytes form aggregates, while collagenous fibrils are rare and disorganized. The tidemark area is significantly increased. The loss of color indicates a decrease in total proteoglycan content. The subchondral bone plate and trabeculae are thicker. (F) Late-stage DDH-induced secondary OA. The cartilage surface is fibrillated and eroded. There are a few viable chondrocytes, which are shrunken at some places and enlarged at others. Chondrocytes are irregularly organized, aggregating in some regions, while being absent in others. Collagenous fibrils are rare and without any structure. A significant loss of proteoglycans is present. SZ – superficial zone; IZ – intermediate (middle) zone; DZ – deep zone; asterisk – tidemark; CZ – calcified zone; SB – subchondral zone.

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