Define dysplasia
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Understanding Dysplasia: Definition and Key Insights
Definition of Dysplasia
Dysplasia refers to the abnormal development or growth of cells, tissues, or organs. It is often characterized by the presence of immature cells and an abnormal arrangement of cells within the tissue. Dysplasia can occur in various parts of the body and can be a precursor to cancer, although not all dysplastic changes lead to malignancy.
Skeletal Dysplasias: A Heterogeneous Group
Overview of Skeletal Dysplasias
Skeletal dysplasias, also known as osteochondrodysplasias, are a diverse group of more than 350 disorders that affect bone and cartilage development. These conditions are often associated with orthopedic complications and varying degrees of dwarfism or short stature. The diagnosis of skeletal dysplasias is based on radiographic, clinical, and molecular criteria, and understanding the molecular mechanisms has improved clinical diagnosis and reproductive choices for affected individuals and their families.
Classification and Incidence
The current classification of skeletal dysplasias includes 461 diseases grouped into 42 categories. These disorders are congenital and have a genetic etiology, with an incidence of more than 1 in every 5000 newborns. The type of dysplasia and associated abnormalities significantly impact the lethality, survival, and long-term prognosis of these conditions.
Specific Types of Dysplasia
Dysplasia Epiphysealis Hemimelica (DEH)
Dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease, is a rare developmental disorder characterized by asymmetric enlargement of the epiphyseal cartilage of long bones. It typically manifests in children aged 3 to 15 years and can be differentiated from osteochondroma based on clinical, radiologic, and pathologic parameters. DEH lesions histologically resemble osteochondroma after 4 to 5 years of age, but there are significant histologic differences, including the presence of osteocartilaginous nodules and normal expression levels of EXT1 and EXT2 genes.
Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS)
Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare disorder caused by somatic mutations in the GNAS gene, leading to inappropriate production of cyclic adenosine monophosphate (AMP). This results in impaired differentiation of skeletal stem cells and the formation of discrete skeletal lesions prone to fracture, deformity, and pain. FD/MAS also includes extraskeletal manifestations such as hyperpigmented macules and hyperfunctioning endocrinopathies.
Diagnostic and Management Approaches
Diagnostic Criteria
The diagnosis of skeletal dysplasias involves a combination of height measurement, proportionality calculation, physical examination, radiographs, family pedigree investigation, and occasionally laboratory studies. Accurate diagnosis is crucial for projecting the patient's ultimate height, predicting deformities, and assessing the risk of recurrence in the family.
Respiratory Management in Infants
Many types of skeletal dysplasia are complicated by respiratory failure at or soon after birth, requiring intensive care and prolonged hospitalization. Respiratory complications include airway anomalies, restrictive lung disease, pulmonary hypoplasia, and central apnea. Effective management requires a clear understanding of the pathophysiology and the use of pulmonary function tests for early recognition and management of complications.
Conclusion
Dysplasia encompasses a wide range of disorders characterized by abnormal development or growth of cells, tissues, or organs. Skeletal dysplasias, in particular, are a heterogeneous group of genetic disorders affecting bone and cartilage development. Understanding the molecular mechanisms, accurate diagnosis, and appropriate management strategies are essential for improving the quality of life and prognosis for individuals affected by these conditions.
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