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Diseases of joints
 

Diseases of joints

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  • Intramembranous and Endochondral ossification, note: 1 , Reserve zone. 2 , Zone of proliferation. 3 , Zone of hypertrophy. 4 , Zone of mineralization. 5 , Primary spongiosa.
  • Achondroplastic and thanatophoric dwarfs
  • Diffusely DENSE bone with Erlenmeyer Flask deformity of distal humerus
  • Primary = YOUNGER patients, Secondary = OLDER patients
  • Osteochondroma
  • GCT occurs in patients, 20s-40-s, and GCT has a MACROPHAGE lineage
  • Biurate has the OPPOSITE polarization pattern of pyrophosphate. In GOUT, as seen here, the yellow needles are vertical and the blue needles are horizontal, under polarization. IN PSEUDOGOUT, the OPPOSITE is seen.
  • These diseases are related, but PVN appears as shaggy or “villous” projections of synovium, and GCT is a solid tumor. BOTH are regarded as BENIGN proliferations of synovium and reactive cells.
  • What is a herring bone pattern?
  • The MAIN difference between leiomyomas and leiomyosarcomas is the number of mitoses per high power field! How many do you see here?

Diseases of joints Diseases of joints Presentation Transcript

  • JOINT PATHOLOGY www.freelivedoctor.com
  • www.freelivedoctor.com
  • Modeling/RE-modeling www.freelivedoctor.com
  • CELLS of BONE
    • OSTEOPROGENITOR (“STEM”)  (TGF β )
    • OSTEOBLASTS (surface of spicule)
    • OSTEOCYTES (completely within spicule)
    • OSTEOCLASTS (macrophage lineage)
    www.freelivedoctor.com
  • Proteins (organic) of BONE
    • Type 1 collagen (90%)
    • Cell adhesion proteins
    • Calcium-binding proteins
    • Proteins involved in mineralization  
    • Enzymes
    • Growth factors
      • GF-1, TGF-β, PDGF   
    • Cytokines
      • Prostaglandins, IL-1, IL-6, RANKL
    • Proteins Concentrated from Serum
      • β2 –microglobulinAlbumin
      • IGF, insulin-like growth factor
      • TGF, transforming growth factor
      • PDGF, platelet-derived growth factor
      • IL, interleukin
      • RANKL, RANK ligand
    www.freelivedoctor.com
  • Minerals (INorganic) of BONE
    • HYDROXY-APATITE
    • Ca5(PO4)3(OH)
    • Ca10(PO4)6(OH)2
    www.freelivedoctor.com
  • ADJECTIVES of BONE
    • Compact
    • Spongy
    • Cancellous
    • Membranous
    • Dense
    • Cortical
    • Endosteal
    • Woven
    • Lamellar
    • Spicular
    www.freelivedoctor.com
  • Woven vs Lamellar www.freelivedoctor.com
  • www.freelivedoctor.com
  • - BLASTS/-CLASTS www.freelivedoctor.com
  • BONE DISEASES
    • 1) MALFORMATIONS AND DISEASES CAUSED BY DEFECTS IN NUCLEAR PROTEINS AND TRANSCRIPTION FACTORS, polydactyly, syndactyly, absence of a bone
    • 2) DISEASES CAUSED BY DEFECTS IN HORMONES AND SIGNAL TRANSDUCTION MECHANISMS, achondroplasia, thanatophoria
    • 3) DISEASES ASSOCIATED WITH DEFECTS IN EXTRACELLULAR STRUCTURAL PROTEINS
      • Type 1 Collagen Diseases (Osteogenesis Imperfecta)
      • Types 2, 10, and 11 Collagen Diseases
    • 4) DISEASES ASSOCIATED WITH DEFECTS IN FOLDING AND DEGRADATION OF MACROMOLECULES
      • Mucopolysaccharidoses
    • 5) DISEASES ASSOCIATED WITH DEFECTS IN METABOLIC PATHWAYS (ENZYMES, ION CHANNELS, AND TRANSPORTERS)
      • Osteopetrosis
    • 6) DISEASES ASSOCIATED WITH DECREASED BONE MASS
      • Osteoporosis
    • 7) DISEASES CAUSED BY OSTEOCLAST DYSFUNCTION
      • Paget Disease (Osteitis Deformans)
    • 8) DISEASES ASSOCIATED WITH ABNORMAL MINERAL HOMEOSTASIS
      • Ricketts and Osteomalacia
      • Hyperparathyroidism
      • Renal Osteodystrophy
    www.freelivedoctor.com
  • 1) MALFORMATIONS AND DISEASES CAUSED BY DEFECTS IN NUCLEAR PROTEINS AND TRANSCRIPTION FACTORS
    • Congenital absence of a, usually single, bone: phalanx, rib, clavicle
    • Supernumerary digit (polydactyly)
    • Syndactyly
    • CRANIORACHISCHISIS
    www.freelivedoctor.com
  • www.freelivedoctor.com
  • 2) DISEASES CAUSED BY DEFECTS IN HORMONES AND SIGNAL TRANSDUCTION MECHANISMS
    • Achondroplasia, dwarf (non-lethal)
    • Thanatophoria, dwarf (lethal)
    • a point mutation (usually Arg for Gly375) in the gene that codes for FGF receptor 3 (FGFR3), which is located on the short arm of chromosome 4. In the normal growth plate, activation of FGFR3 inhibits cartilage proliferation;
    • A MUTATION causes FGFR3 to be constantly activated.
    www.freelivedoctor.com
  • www.freelivedoctor.com
  • 3) DISEASES ASSOCIATED WITH DEFECTS IN EXTRACELLULAR STRUCTURAL PROTEINS
    • OSTEOGENESS IMPERFECTA TYPES
    • (“Brittle” bone disease, too LITTLE bone), BLUE sclerae
    • Mutations in genes which code for the alpha-1 and alpha-2 chains of COLLAGEN 1
    • Mutations of COLLAGEN 2,10, 11 manifest themselves as CARTILAGE diseases, ranging from joint cartilage destruction to fatal
    www.freelivedoctor.com
  • Osteogenesis Imperfecta www.freelivedoctor.com
  • 4) DISEASES ASSOCIATED WITH DEFECTS IN FOLDING AND DEGRADATION OF MACROMOLECULES
    • MUCOPOLYSACCHARIDOSIS (one of MANY lysosome storage diseases)
    • DECREASES in ENZYMES which degrade:
      • DERMATAN
      • HEPAR A N
      • KERAT A N
    • Chiefly CARTILAGE disorders: short, chest wall, malformed bones
    www.freelivedoctor.com
  • MUCOPOLYSACCHARIDOSES www.freelivedoctor.com
  • 5) DISEASES ASSOCIATED WITH DEFECTS IN METABOLIC PATHWAYS (ENZYMES, ION CHANNELS, AND TRANSPORTERS)
    • OSTEOPETROSIS, 4 types
    • One common one has a CARBONIC ANHYDRASE deficiency
    • DECREASED osteoclast resorption
    • “ MARBLE” bone, brittle, sclerosis
    www.freelivedoctor.com
  • OSTEOPETROSIS www.freelivedoctor.com
  • 6) DISEASES ASSOCIATED WITH DECREASED BONE MASS
    • OSTEOPOROSIS
    • “ PEAK” bone mass is early adulthood
    • Normal decline, slow
    • Osteoporosis is accelerated bone loss
    • Factors:
      • AGE
      • Physical activity
      • Estrogen
      • Nutrition (Ca++)
      • Genetics
    www.freelivedoctor.com
  • www.freelivedoctor.com Categories of Generalized Osteoporosis Primary   Postmenopausal Idiopathic    Senile   Secondary   Endocrine disorders Rheumatologic disease Hyperparathyroidism    Drugs Hypo-hyperthyroidism    Anticoagulants    Hypogonadism    Chemotherapy    Pituitary tumors    Corticosteroids    Diabetes, type 1    Anticonvulsants    Addison disease    Alcohol    Neoplasia Miscellaneous Multiple myeloma    Osteogenesis imperfecta    Carcinomatosis    Immobilization    Gastrointestinal Pulmonary disease    Malnutrition, Malbs., Hepatic Insuf., Vit C,D    Homocystinuria    Anemia       
  • OSTEOPOROSIS www.freelivedoctor.com
  • 7) DISEASES CAUSED BY OSTEOCLAST DYSFUNCTION Paget Disease (Osteitis Deformans)
    • Matrix madness, Osteoblasts/-cytes gone wild
    • THREE PHASES:
      • 1) Increased osteoclast resorption
      • 2) Increased “hectic” bone formation (osteoblasts)
      • 3) Osteosclerosis
    • ELEVATED ALKALINE-PHOSPHATASE
    • ELEVATED urine HYDROXYPROLINE
    www.freelivedoctor.com
  • PAGET’s DISEASE (of BONE) 85% MONOSTOTIC, WHOLE BONE 15% POLY-OSTOTIC (skull, pelvis) “ JIGSAW”, NOT LAMINAR, BONE CLINICAL: PAIN!!! (MICROFRACTURES) www.freelivedoctor.com
  • PAGET’s DISEASE www.freelivedoctor.com
  • 8) DISEASES ASSOCIATED WITH ABNORMAL MINERAL HOMEOSTASIS
      • Ricketts and Osteomalacia
        • VITAMIN D deficiency/dysfunction
      • Hyperparathyroidism, PRIMARY (PTH ADENOMA)
        • ENTIRE SKELETON
        • OSTEITIS FIBROSIS CYSTICA (von Recklinghausen’s disease (of bone)
        • “ BROWN” TUMOR
      • Hyperparathyroidism, SECONDARY (RENAL) (NOT AS SEVERE AS 1 º)
      • Renal Osteodystrophy = ANY bone disorder due to chronic renal disease
    www.freelivedoctor.com
  • PRIMARY HYPERPARATHYROIDISM www.freelivedoctor.com OSTEITIS FIBROSA CYSTICA “ BROWN” “TUMOR”
  • RENAL OSTEODYSTROPHY
    • PHOSPHATE RETENTION
    • HYPOPHOSPHATEMIA
    • HYPOCALCEMIA
    • INCREASED PTH
    • INCREASED OSTEOCLASTS
    • METABOLIC ACIDOSIS  release of HYDROXYAPATITES from matrix
    www.freelivedoctor.com
  • FRACTURES www.freelivedoctor.com
  • FRACTURES, adjectives
    • Complete, incomplete
    • Closed, open (communicating)
    • Communited (splintered)
    • Displaced (NON-aligned)
    • PATHOGENIC, (non-traumatic, 2 º to other disease, often metastases)
    • “ STRESS” fracture
    www.freelivedoctor.com
  • FRACTURES
    • THREE PHASES
      • HEMATOMA, minutes days  PGDF, TGF- β , FGF
      • SOFT CALLUS (“PRO”-CALLUS), ~1 week
      • HARD CALLUS (BONY CALLUS), several weeks
    • COMPLICATIONS
      • PSEUDARTHROSIS
      • INFECTION (especially OPEN [communicating] fractures)
    www.freelivedoctor.com
  • FRACTURES www.freelivedoctor.com
  • OSTEONECROSIS
    • Also called AVASCULAR necrosis
    • Also called ASEPTIC necrosis
    • CAUSE: ISCHEMIA
      • Trauma
      • Steroids
      • Thrombus/Embolism
      • Vessel injury, e.g., radiation
      • INCREASED intra-osseous pressure  vascular compression
      • Venous hypertension too
    www.freelivedoctor.com
  • OSTEONECROSIS www.freelivedoctor.com Disorders Associated with Osteonecrosis Idiopathic Pregnancy Trauma Gaucher disease Corticosteroid administration Sickle cell and other anemias Infection Alcohol abuse Dysbarism Chronic pancreatitis Radiation therapy Tumors Connective tissue disorders Epiphyseal disorders
  • OSTEONECROSIS www.freelivedoctor.com
  • OSTEONECROSIS www.freelivedoctor.com
  • OSTEOMYELITIS
    • Pyogenic: Staph , E. coli, Pseudom, Kleb
      • Hematogenous
      • Contiguous
      • Direct implantation
    • TB
    • Syphilis
    www.freelivedoctor.com
  • OSTEOMYELITIS
    • DX: X-ray, Bone scan
    www.freelivedoctor.com
  • OSTEOMYELITIS
    • DX: Histology
    www.freelivedoctor.com
  • OSTEOMYELITIS
    • COMPLICATIONS
      • Subperiosteal abscess
      • Draining sinus
      • Joint involvement
    • SEQUESTRUM vs. INVOLUCRUM
    www.freelivedoctor.com
  • www.freelivedoctor.com
  • OSTEOMYELITIS
    • Tuberculous
      • Usually blood borne
      • TB of spine is known as POTTS disease
    • Syphilis
      • CONGENITAL
      • TERTIARY, “SABRE” shins
    www.freelivedoctor.com
  • POTT’s DISEASE www.freelivedoctor.com
  • SABER SHINS www.freelivedoctor.com
  • www.freelivedoctor.com Classification of Primary Tumors Involving Bones Histologic Type Benign Malignant Hematopoietic (40%) Myeloma Malignant lymphoma Chondrogenic (22%) Osteochondroma Chondrosarcoma Chondroma Dedifferentiated chondrosarcoma Chondroblastoma Mesenchymal chondrosarcoma Chondromyxoid fibroma Osteogenic (19%) Osteoid osteoma Osteosarcoma Osteoblastoma Unknown origin (10%) Giant cell tumor tumor Giant cell tumor Adamantinoma Histiocytic origin Fibrous histiocytoma Malignant fibrous histiocytoma Fibrogenic Metaphyseal fibrous defect (fibroma) Desmoplastic fibroma Fibrosarcoma Notochordal Chordoma Vascular Hemangioma Hemangioendothelioma Hemangiopericytoma Lipogenic Lipoma Liposarcoma Neurogenic Neurilemmoma
  • BONE TUMORS
    • BONE
    • CARTILAGE
    • FIBROUS
    • MISC.
      • Ewing’s “sarcoma”
      • Giant Cell Tumor
      • METASTASES
    www.freelivedoctor.com
  • BONE- BONE TUMORS
    • OSTEOMA
    • OSTEOID OSTEOMA
    • OSTEOBLASTOMA
    • OSTEOSARCOMA (OSTEOGENIC SARCOMA)
    www.freelivedoctor.com
  • OSTEOMA
    • SOLITARY
    • MIDDLE AGE
    • FROM SUBPERIOSTEAL or ENDOSTEAL surfaces
    • SKULL, FACE, most common
    • Totally BENIGN
    • To be distinguished from REACTIVE BONE
    www.freelivedoctor.com
  • FRONTAL SINUS www.freelivedoctor.com
  • OSTEOID OSTEOMA
    • At least 2 cm in diameter
    • Teens, twenties, APPENDICULAR skeleton
    • M>>F
    • PAINFUL
    • Has a NIDUS
    • Responds to aspirin
    • Induces a MARKED bony reaction
    www.freelivedoctor.com
  • NIDUS www.freelivedoctor.com
  • OSTEOBLASTOMA
    • AXIAL SKELETON, i.e., SPINE
    • NO Nidus
    • NO bony reaction
    • NOT relieved by aspirin
    www.freelivedoctor.com
  • OSTEOSARCOMA (OSTEOGENIC SARCOMA) www.freelivedoctor.com LATE TEENS KNEES METAPHYSES PAINFUL!!!
  • TYPES of OSTEOSARCOMAS
    • • The anatomic portion of the bone from which they arise (intramedullary, intracortical, or surface)
    • • Degree of differentiation
    • • Multicentricity (synchronous, metachronous)
    • • Primary (underlying bone is unremarkable) or secondary (e.g., osteosarcoma associated with pre-existing disorders such as benign tumors, Paget disease, bone infarcts, previous irradiation)
    • • Histologic variants (osteoblastic, chondroblastic, fibroblastic, telangiectatic, small cell, and giant cell)
    www.freelivedoctor.com
  • The most common subtype is osteosarcoma that arises in the metaphysis of long bones; is primary, solitary, intramedullary, and poorly differentiated; and produces a predominantly bony matrix www.freelivedoctor.com
  • BONE- CARTILAGE TUMORS
    • OSTEOCHONDROMA (EXOSTOSIS)
    • CHONDROMA
    • CHONDROBLASTOMA
    • CHONDROMYXOID FIBROMA
    • CHONDROSARCOMA
    www.freelivedoctor.com
  • OSTEOCHONDROMA (EXOSTOSIS)
    • Common, Cartilage AND Bone present
    • Often MULTIPLE as a hereditary syndrome
    • M>>>F
    • PELVIS, SCAPULAE, RIBS
    www.freelivedoctor.com
  • www.freelivedoctor.com
  • CHONDROMA
    • Chondroma vs. EN-chondroma
    • PURE Hyaline Cartilage
    • MULTIPLE enchondromas = Ollier’s dis.
    • Maffucci synd. if hemangiomas present
    www.freelivedoctor.com
  • CHONDROBLASTOMA
    • RARE, in teenagers
    • M>>F
    • KNEES, usually
    • Epiphyses
    • MUCH LESS matrix than a chondroma
    www.freelivedoctor.com
  • CHONDROMYXOID FIBROMA
    • RAREST of all
    • TEENS, MALES
    • “ MYXOID” concept
    • “ ATYPIA”
    www.freelivedoctor.com
  • CHONDROSARCOMA
    • ANATOMY
      • INTRAMEDULLARY
      • JUXTACORTICAL
    • HISTOLOGY
      • CONVENTIONAL
        • HYALINE
        • MYXOID
      • CLEAR
      • DE-DIFFERENTIATED
      • MESENCHYMAL
    www.freelivedoctor.com
  • CHONDROSARCOMA www.freelivedoctor.com
  • BONE- FIBROUS TUMORS
    • FIBROUS CORTICAL DEFECT/NON-OSSIFYING FIBROMA
    • FIBROUS DYSPLASIA
    • FIBROSARCOMA/MALIGNANT FIBROUS HISTIOCYTOMA
    www.freelivedoctor.com
  • FIBROUS CORTICAL DEFECT
    • COMMON, usually LESS THAN 1 CM
    • CHILDREN >2
    • IF MORE THAN 5-6 CM, they are then called NON-OSSIFYING FIBROMA
    www.freelivedoctor.com
  • FIBROUS DYSPLASIA
    • BENIGN TUMOR
    • THREE TYPES
      • SINGLE BONE (70%)
      • POLY-OSTOTIC (27%)
      • POLY-OSTOTIC (3%) with café-au-lait and endocrine disorders, especially precocious puberty
    www.freelivedoctor.com
    • CURVED spicules
    • LACK of osteoblastic rimming
    www.freelivedoctor.com
  • FIBROSARCOMA/MFH
    • METAPHYSES of LONG BONES
    • PELVIC FLAT BONES
    • LYTIC
    • FRACTURES
    • OF COURSE, SARCOMATOUS METASTASIS
    www.freelivedoctor.com
  • FIBROSARCOMA/MFH www.freelivedoctor.com
  • MISC. TUMORS of BONE
    • EWING sarcoma/PNET (Primitive NeuroEctodermal Tumor)
    • GIANT CELL TUMOR
    • METASTASES
    www.freelivedoctor.com
  • EWING/PNET
    • SAME TUMOR
    • SMALL ROUND
    • NEUROENDOCRINE
    • IDENTICAL CHROMOSOME TRANSLOCATION
    • SECOND most COMMON bone malignancy in CHILDREN
    • ARISE IN MEDULLARY CAVITY of BONE
    • LOOK LIKE LYMPHOMA
    www.freelivedoctor.com
  • GCT (Giant Cell Tumor), BONE www.freelivedoctor.com
  • METASTASES www.freelivedoctor.com MALE: PROSTATE FEMALE: BREAST RENAL, THYROID also seek bone early also LYTIC? BLASTIC?
  • www.freelivedoctor.com
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  • SYNOVIAL JOINTS www.freelivedoctor.com
  • JOINT DISEASES
    • “ ARTHRITIS”
      • DEGENERATIVE (OSTEOARTHRITIS)
      • RHEUMATOID
      • “ JUVENILE” RHEUMATOID
      • NON-INFECTIOUS: Ankylosing Spond., Reactive, Psoriasis, IBD
      • INFECTIOUS: Supp., TB, Lyme, Viral
      • GOUT (URATE)
      • PSEUDOGOUT (PYROPHOSPHATE)
    • Tumors
      • Ganglion (Synovial Cyst)
      • Giant Cell Tumor (Pigmented VilloNodular Synovitis[PVNS])
      • Synovial Sarcoma
    www.freelivedoctor.com
  • DEGENERATIVE ARTHRITIS
    • Etiology/Risk Factors: Age, Trauma, Genes
    • Pathogenesis: Progressive EROSION of articular cartilage
    • Morphology: X-Ray, “eburnation”, “joint mice”, osteophytes
    • Clinical Expression: PAIN, Limitation of motion
    www.freelivedoctor.com
  • www.freelivedoctor.com
  • HEBERDEN’S NODES DIP, NOT MP or PIP www.freelivedoctor.com
  • RHEUMATOID ARTHRITIS
    • Rheumatoid arthritis (RA) is a chronic systemic inflammatory disorder that may affect many tissues and organs—skin, blood vessels, heart, lungs, and muscles—but principally attacks the joints, producing a nonsuppurative proliferative and inflammatory synovitis that often progresses to destruction of the articular cartilage and ankylosis of the joints.
    www.freelivedoctor.com
  • RHEUMATOID ARTHRITIS
    • Etiology/Risk Factors: Autoimmune
    • Pathogenesis: Progressive SYNOVITIS
    • Morphology: Synovial lymphocytes, macrophages, plasma cells, neutrophils, osteoclasts, “pannus”, hyperemia, rheumatoid “nodules”, vasculitis
    • Clinical Expression: PAIN, Limitation of motion, malaise, fatigue, rheumatoid factor IgM-IgGFc,
    www.freelivedoctor.com
  • The rheumatoid “nodule” shows “palisading” fibroblasts HANDS  WRIST  ELBOWS www.freelivedoctor.com
  • DIAGNOSIS
    • CLINICAL FEATURES (1% of population F>>M)
      • MORNING STIFFNESS
      • ARTHRITIS in MORE THAN 3 JOINT AREAS
      • “ TYPICAL” hand findings
      • SYMMETRIC ARTHRITIS
      • SERUM RHEUMATOID FACTOR
      • “ TYPICAL” X-RAY findings
    www.freelivedoctor.com
  • www.freelivedoctor.com
  • “ JUVENILE” Rheumatoid Arthritis
    • Begins BEFORE age 16, by definition
    • Generally LARGER joints than RA
    • Often POSITIVE ANA
    www.freelivedoctor.com
  • “ SERONEGATIVE” ARTHRITIDES
    • ANKYLOSING SPONDYLITIS (aka, “rheumatoid” spondylitis, or Marie-Strumpell Disease [HLA-B27] (M>>F)
    • “ REACTIVE” ARTHRITIS (FOLLOWS GU or GI INFECTIONS)
      • REITER SYDROME (urethral & conjunctival inflammation too) [HLA-B27]
      • Arthritis associated with IBD
    • PSORIATIC ARTHRITIS
    www.freelivedoctor.com
  • Ankylosing Spondylitis www.freelivedoctor.com
  • INFECTIOUS ARTHRITIS
    • From OSTEOMYELITIS
    • USUALLY SUPPURATIVE
    • GC , staph, strep, H. flu, E. coli, (Salmonella in sicklers)
    • 4 cardinal signs, fever, leukocytosis,  ESR
    www.freelivedoctor.com
  • INFECTIOUS ARTHRITIS
    • TB
    • LYME Disease, i.e., Borrelia burgdorferi
    • VIRAL
      • Parvovirus B19
      • Rubella
      • Hepatitis C
    www.freelivedoctor.com
  • GOUT
    • Endpoint of HYPERURICEMIA from ANY cause resulting in JOINT deposition of Monosodium crystals (TOPHI)
      • ACUTE
      • CHRONIC
    • 10% of population has hyperuricemia (>7 mg/dl), but only 1/20 of these has gout
    www.freelivedoctor.com
  • www.freelivedoctor.com Classification of Gout Clinical Category Metabolic Defect Primary Gout (90% of cases) Enzyme defects unknown (85%–90% of primary gout) ■ Overproduction of uric acid   Normal excretion (majority)      Increased excretion (minority)      Underexcretion of uric acid with normal    production Known enzyme defects—e.g., partial HGPRT deficiency (rare) ■ Overproduction of uric acid Secondary Gout (10% of cases) Associated with increased nucleic acid turnover—e.g., leukemias ■ Overproduction of uric acid with increased urinary excretion Chronic renal disease ■ Reduced excretion of uric acid with normal production Inborn errors of metabolism—e.g., complete HGPRT deficiency (Lesch-Nyhan syndrome) ■ Overproduction of uric acid with increased urinary excretion HGPRT, hypoxanthine guanine phosphoribosyl transferase.
  • HYPERURICEMIA  GOUT
    • Age of the individual and duration of the hyperuricemia are factors. Gout rarely appears before 20 to 30 years of hyperuricemia.
    • Genetic predisposition is another factor. In addition to the well-defined X-linked abnormalities of HGPRT, primary gout follows multifactorial inheritance and runs in families.
    • Heavy alcohol consumption predisposes to attacks of gouty arthritis.
    • Obesity increases the risk of asymptomatic gout.
    • Certain drugs (e.g., thiazides) predispose to the development of gout.
    • Lead toxicity increases the tendency to develop saturnine gout
    www.freelivedoctor.com
  • FEATURES
    • TOPHACEOUS ARTHRITIS
    • GOUTY NEPHROPATHY
    www.freelivedoctor.com
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  • GOUTY NEPHROPATHY www.freelivedoctor.com
  • GOUT
    • Associated with ATHEROSCLEROSIS
    • Associated with HYPERTENSION
    www.freelivedoctor.com
  • Pseudo-GOUT
    • Gout: Monosodium Urate
    • Pseudo-GOUT: Calcium Pyrophosphate
    • PSEUDOGOUT is also called CHONDROCALCINOSIS, or CPPD (Calcium Phosphate Deposition Disease)
    • IDIOPATHIC, HEREDITARY, SECONDARY
      • Secondary  joint damage, hyperparathyroidism, hemochromatosis, hypomagnesemia, hypothyroidism, ochronosis, and diabetes
    www.freelivedoctor.com
  • GOUT vs. PSEUDOGOUT www.freelivedoctor.com
  • JOINT TUMORS
    • BENIGN
      • GANGLION (SYNOVIAL CYST)
      • GIANT CELL TUMOR of TENDON SHEATH, aka PVNS, Pigmented VilloNodular Synovitis
    • MALIGNANT
      • SYNOVIAL SARCOMA
    www.freelivedoctor.com
  • GANGLION www.freelivedoctor.com
  • PVNS/GCT www.freelivedoctor.com
  • “ SOFT TISSUE” TUMORS
    • FAT
    • FIBROUS TISSUE
    • FIBROHISTIOCYTIC
    • SKELETAL MUSCLE
    • SMOOTH MUSCLE
    • VASCULAR
    • PERIPHERAL NERVE
    • UNCERTAIN: SYNOVIAL SARCOMA, ALVEOLAR SOFT PART SARCOMA, EPITHELIOD SARCOMA
    www.freelivedoctor.com
  • CAUSES
    • MOSTLY UNKNOWN
    • RADIATION association
    • CHEMICAL BURN association
    • THERMAL BURN association
    • TRAUMA association
    • VIRUS association (HHV8 for Kaposi)
    • GENETICS
    • Parts of many SYNDROMES
    • MANY TRANSLOCATIONS
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  • www.freelivedoctor.com Chromosomal and Genetic Abnormalities in Soft Tissue Sarcomas Tumor Cytogenetic Abnormality Genetic Abnormality Extraosseous Ewing sarcoma and primitive neuroectodermal tumor t(11:22)(q24;q12) FLI-1-EWS fusion gene   t(21:22)(q22;q12) ERG-EWS fusion gene   t(7;22)(q22;q12) ETV1-EWS fusion gene Liposarcoma—myxoid and round cell type t(12:16)(q13;p11) CHOP/TLS fusion gene Synovial sarcoma t(x;18)(p11;q11) SYT-SSX fusion gene Rhabdomyosarcoma—alveolar type t(2;13)(q35;q14) PAX3-FKHR fusion gene   t(1;13)(p36;q14) PAX7-FKHR fusion gene Extraskeletal myxoid chondrosarcoma t(9;22)(q22;q12) CHN-EWS fusion gene Desmoplastic small round cell tumor t(11;22)(p13;q12) EWS-WT1 fusion gene Clear cell sarcoma t(12;22)(q13;q12) EWS-ATF1 fusion gene Dermatofibrosarcoma protuberans t(17:22)(q22;q15) COLA1-PDGFB fusion gene Alveolar soft part sarcoma t(X;17)(p11.2;q25) TFE3-ASPL fusion gene Congenital fibrosarcoma t(12;15)(p13;q23) ETV6-NTRK3 fusion gene
  • SOFT TISSUE TUMORS
    • ALL “SPINDLY”
    • Deep (desmoid) vs. Superficial
    • Importance of MITOSES
    • Importance of STAGING
    • Importance of IMMUNOPEROXIDASE
    • Importance of CONSULTATION
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  • FAT
    • LIPOMA
    • LIPOSARCOMA
    www.freelivedoctor.com NORMAL FAT LIPOMA, encapsulated LIPOSARCOMA, often retroperitoneal
  • FIBROUS TISSUE
    • NODULAR FASCIITIS (pseudosarcomatous)
    • FIBROMATOSES (plantar, palmar, penile)
    • FIBROSARCOMA
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  • MYOSITIS OSSIFICANS
    • BENIGN FIBROUS TISSUE PROLIFERATION PLUS OSSEOUS METAPLASIA
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  • FIBROHISTIOCYTIC
    • FIBROUS HISTIOCYTOMA
    • DERMATOFIBROSARCOMA PROTUBERANS
    • MALIGNANT FIBROUS HISTIOCYTOMA
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  • SKELETAL MUSCLE
    • RHABDOMYOMA
    • RHABDOMYOSARCOMA
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  • SMOOTH MUSCLE
    • LEIOMYOMA
    • LEIOMYOSARCOMA
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  • VASCULAR
    • HEMANGIOMA
    • LYMPHANGIOMA
    • HEMANGIOENDOTHELIOMA
    • HEMANGIOPERICYTOMA
    • ANGIOSARCOMA
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  • PERIPHERAL NERVE
    • NEUROFIBROMA
    • SCHWANNOMA
    • GRANULAR CELL TUMOR
    • MALIGNANT (SCHWANNOMA )
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  • UNCERTAIN
    • SYNOVIAL SARCOMA
    • ALVEOLAR “SOFT PART” SARCOMA
    • EPITHELIOD SARCOMA
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