connective tissues diseases necessary for the diagnosis of dermatological lesions .pptx

This is an abridged version of a true work involved in the diagnosis of dermatological malignancies

1. CONNECTIVE TISSUE DI S E A S ES O L U W A T OSIN A J I B A D E D E N / 2 1 4 / 1

2. Outline Introduction Classification & Types of connective tissue diseases Presentations of CTDs Specific Issues Conclusions

3. Introduction Inherited disorders of connective tissue: clinically and genetically diverse group of conditions affecting primarily the skin, joints, and, often, the cardiovascular system. severity of the musculoskeletal phenotype depends on the type of mutation the role & function of the affected protein on musculoskeletal structure

4. Introduction to CTDs May affect predominantly bone, bone and soft tissues, systemic, May complicate orthopedic procedures musculoskeletal operations differ in preoperative preparations & outcomes May be classified into: Congenital Acquired Inflammatory Immune-mediated

5. Collagen 40 % of the dry weight of bone is Organic components Collagen (90% of organic component ) Collagen is primarily type I: provides tensile strength Type II collagen 95 % of collagen content in articular cartilage Provides cartilaginous framework and tensile strength Very stable, with a half-life of approximately 25years

6. Cont… Collagen type X Produced by hypertrophic chondrocytes during enchondral ossification: Growth plate Fracture callus Heterotopic ossification formation Calcifying cartilaginous tumors Is associated with calcification of cartilage A genetic defect in type X collagen responsible for Schmid’s metaphyseal chondrodysplasia (affects the hypertrophic physeal zone ).

7. Cont… Collagen type XI an adhesive that holds the collagen lattice together

8. Types of collagen Type Tissues I Skin, tendon, bone, meniscus, annulus fibrosus II Articular cartilage, vitreous humor, nucleus pulposus III Skin, muscle, blood vessels IV basement membrane (basal lamina) V,VI,IX,X articular cartilage X Articular cartilage, mineralization of cartilage in hypertrophic zone of physis XI Articular cartilage XII Tendon XIII endothelial cells

9. Marfan syndrome Incidence is 1 in 10,000 Autosomal dominant; 25% new mutations Mutation in fibrillin-1 gene on chromosome 15q21; multiple mutations identified Affected individuals: Dolichostenomelia Arachnodactyly Positive wrist sign (Walker sign) Positive thumb sign (Steinberg sign )