Clinical Correlations/Collagenopathies Flashcards
Osteogenesis Imperfecta
Type I Collagen
Symptoms: Repeated fractures after minor trauma, brittle bones, abnormal teeth, thin skin, weak tendONES, blue sclerae, progressive hearing loss
Kniest dysplasia; Achondrogenesis, type 2
Type II Collagen
Symptoms: short stature, restricted joint mobility, ocular changes leading to blindness, wide metaphyses and joint abnormality seen in radiographs
Ehlers-Danlos type IV
Hypermobility of joints of digits, pale thin skin, severe bruisability, early morbidity and mortality, resulting from rupture of vessels and internal organs
Alport’s Syndrome
Hematuria resulting from structural changes in the glomerular basement membrane of the kidney. progressive hearing loss and ocular lesions
Kindler’s Syndrome
Severe blistering and scarring of the skin after minor trauma, resulting from absence of anchoring fibrils.
Affects of pathogenic agents on transcellular and paracellular pathways
Pathogenic agents may disrupt the tight junctions in the junctional complex on the lateral side of the epithelial cells lining the GI tract. What happens then is that material from CT enters the GI tract and that causes the severe diarrhea etc.
Consequences of disorders of adhering-type junctions
blistering
response of epithelium to stress
metaplasia: changing the shape/function of a cell
epithelial neoplasms
(new growths)
adenomas and papillomas (benign)
carcinomas and adenocarcinomas (malignant)
Elastic Fiber Pathology: Marfan’s syndrome
Marfan’s syndrome
neoplasms
fibroma, chondroma, lipoma (benign)
fibrosarcomas, chondrosarcomas, liposarcoma (malignant)
epithelial-CT interactions during metastasis of carcinoma
a lot like invading blastocyste
Burrett’s Syndrome
correlation
metaplasia (change in cell type) resulting from GERD (gastroesophageal reflux disease. The stratified squamous cells of the esophagus change their cell type to muccuss secreting simple columnar cells.
