MS Disorders

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Anonymous
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33819
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MS Disorders
Updated:
2010-09-10 13:29:18
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pathology
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Muscloskeletal Pathology
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  1. Waardenburg Syndrome






    -
    Selective depigmentation of hair/eyebrows w/ white
    streaks


    -
    Hypertelorism


    -
    Pear-shaped nose


    -
    Normal intelligence

    Hearing loss
    • - Selective depigmentation of hair/eyebrows w/ white streaks
    • - Hypertelorism
    • - Pear-shaped nose
    • - Normal intelligence
    • - Hearing loss
  2. Garderner's syndrome
    • - Mutation 5q21
    • - Jaw osteomas
    • - Intraabdominal desmoid (fibromatosis)
    • - Familial adenomatosis polyposis with hundreds of colonic tubular adenomas and 100% risk of colonic carcinoma recommend resect colon by age 39 years
  3. Crouzon Syndrome
    • - FGFR2 mutation
    • - Autosomal dominant inheritance
    • - Early closure of cranial sutures
    • - Brachycephaly
    • - Spacious forehead
    • - Hypertelorism
    • - Proptosis
    • - Strabismus (“walleye”)
    • - Nystagmus
    • - Beak-like nose
    • - Maxillary hypoplasia
  4. Maffucci Syndrome
    • - Multiple enchondromas involving hands & feet
    • - Multiple hemangiomas (spindle cell hemangiomas) of extremities
    • - Extremities w/ calcified thrombi on x-ray
    • - Increased risk of chondrsarcoma (15%) after age 40
  5. Hurler Syndrome
    • - Mucopolysaccharidosis (MPS) I
    • - Alder Reilly Anomaly granules in neutrophils in peripheral blood smear
    • - Cloudy corneas
    • - Coarse facial features (gargoylism)
    • - Depressed nasal bridge
    • - Mental retardation
    • - Abnormal heart valves
    • -Knock-knees
    • - Stiff joints
    • - Autosomal recessive inheritance
    • - Alpha L-iduronidase deficiency
    • - Death in first decade due to respiratory insufficiency
  6. Ollier's disease
    • Multiple enchondromas of hands & feet
    • Increased risk (30-50%) of chondrosarcomas after age 40
  7. MuCune - Albright Syndrome
    • - Polyostotic fibrous dysplasia with bony trabeculae having a Chinese letter arrangement w/o osteoblastic rimming & fibrous stroma
    • - Often hip/femur involvement w/ shepherd’s crook deformity
    • - Widened cortex w/ ground-glass appearance
    • - Isosexual precocious puberty in females w/ early menarche
    • - Café-au-lait macules w/ irregular coast of Maine periphery
    • - Slightly increased risk of osteosarcoma
  8. Reiter Syndrome
    • - Linked to Chlamydia trachomatis infection
    • - Classic triad of:
    • 1) arthritis
    • 2) Nongonococcal
    • urethritis (NGU)
    • 3) Conjunctivitis

    - HLAB27+
  9. Hunter Syndrome
    • MPS II
    • Similar to Hurler except no cloudy corneas
    • X-linked recessive inheritance
    • Different enzyme deficiency
    • Sulfoiduronate sulfatase deficiency
  10. Lesch- Nyhan Syndrome
    • Hypoxanthine guanine phosphoribosyl transferase (HGPRT) enzyme deficiency
    • Mental retardation
    • Choreoathetosis
    • Hyperreflexia
    • ClonusLeg scissoring
    • Self-mutilation w/ biting of lips, cheeks, & fingertips
    • Early death in 2nd or 3rd decade due to infection or renal failure secondary to sodium urate deposits
  11. Achondroplasia
    • - Point mutation in FGFR3 on 4p16.3
    • - Short extremities due to premature deposition of bony struts at growth plate
    • - Overgrowth of disorganized chondrocytes not in columns
    • - Large head w/ prominent forehead & depressednasal root
    • - Normal intelligence
    • - Normal reproductivity
    • - Sporadic mutations
    • - Autosomal dominant
  12. Craniorachischisis
    • - Open neural tube defect w/ meningomyelocele or encephalocele
    • - Repeatedly elevated alpha-fetoprotein in maternal serum & amniotic fluid
    • - Linked to folic acid deficiency
  13. Thanatophoric Dwarfism
    • - Fatal in infancy or stillborn
    • - Short flipperlike limbs
    • - Small chest & bell-shaped abdomen
    • - Death due to respiratory insufficiency
    • - FGFR3 receptor missense or point mutation
  14. Osteogenesis Imperfecta
    • - Type II lethal in infancy
    • - Deforming type III
    • - Majority autosomal dominant generalized osteopenia w/ multiple bone fractures
    • - Short stature
    • - Abnormalities in synthesis of type 1 collagen
    • - Blue sclera
    • - Gray opalescent teeth w/ fractures due to dentinogenesis imperfecta
  15. Rickets
    • Vitamin D deficiency in children
    • Causes malnutrition, liver disease, renal insufficiency, lack of sunlight exposure
    • Bowing of legs
    • Knobbiness rachitic rosary at Costochondral junctions
    • Flattened occiput if infant
    • Disorderly arrangement of chondrocytes w/ lack of columns
    • Excess unmineralized osteoid
    • Generalized osteopenia
    • Increased Parathyroid Hormone (PTH)
    • Hypocalcemia
  16. Osteopetrosis
    • - Infantile fatal
    • - Autosomal recessive childhood form
    • - Autosomal dominant adult form
    • - Bone fractures
    • - Cranial nerve palsies
    • - Hearing loss
    • - Vision problems
    • - No marrow signal by MRI in infancy
    • - Carbonic anhydrase II deficiency
    • - Loss of osteoclastic activity
    • - Primitive bone & primary spongiosa
    • - Loss of medullary bone so pancytopenia w/ bleeding & infections
    • - Increased bone density on x-ray w/ striped appearance
    • - Loss of corticomedullary demarcation
  17. Osteomalacia
    • - Vitamin D deficiency in adults
    • - Excess unmineralized osteoid w/ widened osteoidseams
    • - Generalized osteopenia
    • - Fractures, deformities w/ kyphoscoliosis
  18. Osteoporosis
    • - Primary senile postmenopausal due to decreased estrogen & increased osteoclastic activity
    • - Secondary causes include endocrine E.g. Cushing’s disease or syndrome
    • - Drugs
    • - Thinning/loss of horizontal trabeculae w/ normal mineralization
    • - Compression fractures in cervical and thoracic/lumbar spine
  19. Hypertrophic Osteoarthropathy
    • Primary or secondary w/ bone pain involving metaphysic of radius, ulna, fibula, femur, humerus in decreasing order of freq.
    • Clubbing of digits
    • Periosteal new bone
    • Secondary causes include bronchogenic lung carcinoma
    • Cystic fibrosis
    • Pulmonary metastases
  20. Avascular necrosis
    • - Dead bone w/ empty lacunae plus
    • - Fat necrosis in medullary cavity
    • - No neutrophils
    • - Causes include corticosteroids
    • - Pancreatitis
    • - Hemoglobinopathies including sickle cell anemia,polycythemia vera
    • - Dysbarism (bends)
    • - Often involves hip(s)
    • - Found in 20% of cases of Gaucher’s disease
  21. Renal Osteodystrophy
    • - Dissecting osteitis w/ increased osteoclasticactivity
    • - Often mixed w/ osteomalacia & osteosclerosis
  22. Gaucher disease
    • - Usually type I
    • - Splenomegaly
    • - Pancytopenia, first thrombocytopenia
    • - Bone pain in long bones or spine
    • - Present in 30s-40s
    • - Autosomal recessive inheritance
    • - Mineralized infarct
    • - Widened metadiaphysis w/ Erlenmeyer flask appearance
    • - Replacement of marrow by sheets of histiocytes w/ abundant PAS+ cytoplasm resembling wrinkled tissue paper
  23. Legg- Calve Perthes
    • - Avascular necrosis of femoral head (hips) in pediatric age
    • - Limp, Abnormal gate
    • - Pain referred to thigh
    • - Must maintain range of motion
  24. Paget's disease
    • - Caucasian, Northern European, US
    • - M>F, older males 50 plus
    • - Thickened skull bones so tight hat
    • - Bowing of long bones
    • - Classic osteosclerotic phase w/ prominent cement lines resembling jigsaw puzzle piece or mosaic
    • - Coarse trabeculae on x-ray w/ widened cortex flame or blade of grass sign
    • - Fatal secondary osteosarcoma
    • - Increased serum alkaline phosphatase and urinary hydroxyproline; normal serum calcium & phosphorus
  25. Hyperparathyroidism
    • - Associated w/ increased serum calcium due to increased parathyroid hormone
    • - Pituitary adenoma
    • - Dissecting osteitis w/ tunneling
    • - Increased osteoclastic activity w/ bone resorption
    • - Fibroblastic replacement
  26. Osteoid Osteoma
    • - < 2cm, young, 1st 2 decades
    • - Nocturnal pain relieved w/ aspirin
    • - Long bones
    • - Classic x-ray w/ mineralized nidus
    • - Lytic zone & peripheral osteosclerosis
    • - Central woven bone
    • - Next loose connective tissues w/ vascular proliferation
    • - Peripheral osteosclerosis
    • - Zonation
  27. Osteoblastoma
    Identical x-ray & histology as osteoid osteoma, but larger < 2 cm

    Involves spine/vertebral bodies

    No relief w/ aspirin
  28. Chrondosarcoma
    • - Middle to old age
    • - Axial skeleton
    • -Pelvic or shoulder girdle
    • - Multiple pleomorphic nuclei in a single lacuna
    • - Mitoses
    • - Pleomorphism
    • - Conventional
    • - Low grade w/ favorable prognosis
    • - High grade III 70% mets usually to lung
    • - Increased risk of chondrosarcoma:
    • Maffucci syndrome
    • Ollier’s disease
    • Familial multiple osteochondromas EXT1 gene
  29. Enchondroma
    • - Benign intramedullary tumor of hyaline cartilage
    • - Lobules of cartilage w/ one nucleus in a lacunar space
    • - X-ray showing rings & arcs
    • - Stippled or flocculent densities
    • - If multiple & involve hands & feet think Maffucci syndrome or Ollier’s disease
  30. Chondroma
    Identical histology & x-ray changes as enchondroma but location on surface
  31. Mesenchymal Chondrosarcoma
    • - 2nd– 3rd decade,
    • - Diaphysisof long bones
    • - Small blue round cell tumor w/ islands of hyaline cartilage
    • - Poor prognosis 28% at 5 years
  32. Chrondromyoxid Fibroma
    • - Teens-20s
    • - Metaphysis of long tubular bones
    • - Oval bubbly w/ sclerotic rim on x-ray
    • - Nodulesof hyaline cartilage w/ myxoid change
    • - Proliferation of stellate and spindle cells w/ increased cellularity at periphery in fibrous septa
  33. Chordoma
    • - 30s-40s, MIDLINE lesion so sacrococcygeal or spheno-occipital
    • - Rectal pain &constipation if sacrococcygeal
    • - Visual field defects if spheno-occipital
    • - Cords/nests of cells w/ clear bubbly cytoplasm (physaliferous cells)
    • - EMA+, cytokeratin+, S100 protein+
  34. Chondroblastoma
    • - Teens-20s,epiphyseal location
    • - End of long bone
    • - Distal femur
    • - Proximal humerus
    • - Sheets of polyhedral cells w/ eosinophilic cytoplasm
    • -Mineralized matrix w/ a “chicken wire” appearance
    • - Eccentric lytic lesion w/ sclerotic rim
  35. Osteochondroma
    • - Dev. defect so stop growing at puberty
    • - Lateral displacement of growth plate
    • - Cartilaginous cap, often pedunculated
    • - Communication of medulla of osteochondroma & medullary cavity of long bone
  36. Ostemoma
    • - Involve bones of skull or maxilla
    • - Thickened bony trabeculae w/ woven & lamellar bone, often bones of skull
    • - If multiple think of Gardner syndrome (tori)
  37. Osteosarcoma
    • - Most common primary matrix producing malignancy of bone
    • - Malignant ostoblasts
    • - More common in males
    • - 2 peaks w/ largest in 2nd-3rd decade and seconda peak in elderly as secondary osteosarcoma
    • - early hematogenous spread to lungs
    • - 20% w/ primary osteosarcoma have lung mets at presentation
    • - Painless or painful mass most often around knee (distal femur, proximal tibia)
  38. secondary Osteosarcoma
    • found in eldery
    • associated with radiation therapy
    • paget's disease
    • infarct
  39. Parosteal Osteosarcoma
    • - Classic low grade w/ favorable prognosis
    • - Popliteal fossa mass
    • - 2nd-3rd decade
    • - Broad-based mass attached but not penetrating cortex of distal femur
    • - Fibroblastic stroma w/ cartilaginous cap
    • - Rare mitosis
    • Rare“lacy” osteoid
  40. Telangiectatic Ostesarcoma
    • High grade
    • Distal femur or proximal tibia
    • Grossly resemble “bag of blood”
    • Malignant osteoblasts in stroma
    • Dilated vascular spaces
  41. Syndromes Associated w/ Increased Risk of Osteosarcoma
    • Bloom, Li Fraumeni, McCune Albright Retinoblastoma, Rothman-Thomson, Werner elevation
    • Lamellated onionskin appearance
    • Spiculated or “sunburst” appearance characteristic of high sarcomas esp. high grade osteosarcoma & Ewing sarcoma
    • [LiFraumeni, assoc w/ p53 mutation]
  42. Fibrous Dysplasia
    • Mono-ostotic or polyostotic
    • Pediatric lesion
    • Widened cortex w/ ground-glass appearance
    • Irregular bony trabeculae w/ Chinese letter appearance w/o osteoblastic rimming & fibrous stroma
    • Facial bones, ribs
    • Femur/hip w/ shepherd’s crook deformity
    • Polyostotic form w/ café-au-lait spots see w/ McCune Albright syndrome (3%)
  43. Non ossifying Fibroma
    • (called fibrous cortical defect if small lesion 0.5 cm in toddler)
    • NOF in adolescent
    • 5-6 cm in diameter
    • Distal femur, proximal tibia
    • Eccentric lytic intracortical w/ scalloped edges
    • Metaphysis
    • Fibroblastic proliferation w/ a storiform (“pinwheel”) pattern & clusters of foamy/xanthomatous histiocytes
  44. High Grade Intramedullary Osteosarcoma
    • Codman triangle
    • Abnormal periosteal reaction including Codman triangle (discontinuous periosteal reaction)
    • Ivory-like density on x-ray,
    • Extension of ivory-like density into soft tissue indicative of cortical destruction w/ soft tissue extension
    • - Pathognomonic “lacy” or lacelike osteoid
    • - Many mitoses
    • - Some atypical, pleomorphic osteoblasts
    • - Osteoblastic type has ivory-like density
    • - Amount of necrosis inversely related to prognosis
    • - Poor survival w/ increased necrosis
  45. Eosinophilic Granuloma
    • Unifocal Langerhans cell histiocytosis
    • Teens-20s
    • Single lytic lesion in skull, rib, or metaphysic of femur
    • CD1a+
    • S100 protein+
    • Langerhans cells w/ bluish gray cytoplasm & nuclear groove
    • Accompanied by numerous eosinophils
  46. Aneurysmal Bone Cyst
    • 2nd decade
    • Metadiaphyseal
    • Femur, tibia, radius
    • Blown out eccentric lytic lesion
    • Recurs if only curetted
    • Dilated thin-walled vascular spaces
    • Fibrous stroma w/ osteoclastic giant cells
    • May be seen w/ other bone tumors including giant cell tumor of bone
  47. Giant cells tumor of bone
    • More common in females
    • Unusual among bone tumors
    • Eccentric lytic epiphyseal lesion w/ sclerotic rim
    • Proliferating mononuclear type cell growing insyncytium & osteoclastic type giant cells
    • Benign
    • Recurs if incompletely excised
  48. Plasma Cell Myeloma
    • Hypercalcemia w/ constipation & lethargy
    • Low back pain, [anemia]
    • 50-80 years
    • Multiple lytic bone lesions or generalized osteopenia
    • “spike” in gamma globulin region of SPEP
    • Bence Jones protein in urine w/ “spike” and free monoclonal light chains
    • IgG>IgA
    • Light chain types
    • In marrow sheets of plasma cells w/ eccentric nuclei, nucleoli, & multinucleation
    • Most Common primary malignancy in bone
  49. Ewing Sarcoma/Primitive Neuroectodermal Tumor
    • T(11;22)
    • Small, blue round cell tumor
    • 1st – 2nd decades
    • Permeative moth-eaten diaphyseal lesion w/ cortical destruction & soft tissue extension
    • Abnormal lamellated periosteal reaction
    • Many mitoses
    • Necrosis
    • PAS+ cytoplasm due to glycogen
    • CD99+
    • Vimentin+
    • Aggressive tumor
    • Requires chemotherapy, radiation
  50. Waldenstrom’s Macroglobulinemia
    • Monoclonal gammopathy of IgM type
    • More often presents w/ enlarged lymph nodes due to lymphoplasmacytic lymphoma
    • Plasma cells w/ Dutcher bodies (intranuclear eosinophilic inclusions due to monoclonal protein)
    • Small mature lymphocytes
    • Plasmacytoid lymphocytes in bone marrow
    • Headaches
    • Blurred vision due to hyperviscosity syndrome
    • Rouleaux formation with RBCs in periph. blood smear resembling stacks of coins
    • Rouleaux can occur w/ any type of monoclonal gammopathy including plasma cell myeloma
  51. Metastases to bone
    • MOST COMMON malignancy in bone
    • Remember eponym:
    • Bacon Lettuce Tomato w/ Kosher Pickle
    • Mets from: B= breast L = lung T = thyroid K = kidney P= prostate
    • Lytic bone lesions in patient > 40 yrs is a METASTASIS, all lytic except prostate which is osteoblastic w/ woven new bone formation so x-ray of prostate mets shows increased bone density
  52. Osteoarthritis
    • Also known as degenerative joint disease
    • Increasing incidence at >50+ years
    • Principally due to mech. wear & tear injury
    • Increased TNFalpha & IL-1
    • Fibrillation of articular cartilage w/ formation of joint mouse/mice (loose bodies) in synovial fluid
    • Complete loss of articular cartilage called eburnation
    • Subchondral cysts
    • Subchondral osteosclerosis
    • Involvement of major weight-bearing joints including hips, knees, spine
    • Osteophyte formation
    • Asymmetric, osteophytes at DIP joints in hands called Heberden’s nodes
    • Stiffness in morning w/o decrease in symptoms w/ activity
  53. Acute Pyogenic Osteomyelitis
    • Necrotic bone w/ empty lacunae & neutrophils
    • MOST COMMON cause is Staph aureus so see Gram positive cocci in clusters




    • Other causes if IVDU or urinary tract infection include

    • Klebsiella species, E. coli, or Pseudomonas aeruginosa

    • Salmonella

    • species in sickle cell anemia pts

    • Hemophilus influenzae or Streptococcus agalactiae

    • (Group B strep) in pediatric cases

    • Lytic lesion w/ periosteal reaction in x-ray

    • Hematogenous or direct spread

  54. Rheumatoid Arthritis
    • Autoimmune condition
    • HLADR4+
    • Activated T lymphocytes, cytokines
    • FEMALE predominance
    • Relapsing/remitting
    • Present in 20s-30s
    • Systemic condition so can have fever
    • Proliferative synovitis w/ classic finding of lymphoid nodules & also plasma cells
    • Proliferating synovium forms pannus which grows over & destroys articular cartilage and extends to involve supporting tendinoligamentous structures w/ joint instability
    • Mainly involves small joints of hands/feet
    • Symmetric
    • Stiffness in morning abates w/ activity
    • Positive rheumatoid factor of IgM type
    • PIP & MCP principally involved
    • Ulnar deviation
    • Swan neck deformity
    • Subluxation at MCP joints
    • Rheumatoid nodule w/ central fibrinoid necrosis & periph. palisading of histiocytes & lymphocytes over flexer surfaces
    • Elbows or visceral organs
  55. Chronic Osteomyelitis
    • Chronic inflammation w/ plasma cells
    • Fibroblastic proliferation
    • Necrotic bone w/ empty lacunae called sequestrum,
    • Overlying woven bone on necrotic bone is called involucrum
  56. Tuberculous Osteomyelitis
    • If involve spine, called Pott’s disease
    • Granulomas w/ central caseation & periph. Langhans giant cells & T lymphocytes
    • [Periph =peripheral]
  57. Psoriatic Arthritis
    • Seen in 5% of pts w/ psoriasis
    • 35-45 yrs of age
    • Silvery scales in flexural areas
    • Most often asymmetric oligoarticular
    • DIP of hands/feet > ankles > knees & hips
    • Sausage-shaped fingers (dactylitis) w/ pitting of nails
    • Onycholysis of nails
  58. Gout
    • Caused by deposits of sodium urate crystals which arethin, needle-shaped showing strong negative birefringence (blue perpendicular to axis of compensation & yellow parallel)




    Large aggregates of sodium urate called tophi seen w/





    • recurrent disease usually after history of 12+ yrs

    • Treat w/ allopurinol

    • Abort attack w/ colchicines

    • & NSAIDs

    • Exacerbate symptoms w/ alcohol & obesity

    • Classic pain in first MTP joint of great toe > insteps

    • > ankles > heels

    • Later hands

    • Asymmetric

    • Can have renal stones or renal failure

    • Classic crystals identified in synovial fluid

  59. Pseudogoat
    • Also know as chondrocalcinosis
    • Deposits of calcium pyrophosphate crystals which are short w/ blunt ends showing weak positive birefringence (blue parallel to axis of compensation & blue perpendicular)





    • Increasing symptom

    • s

  60. Ankylosing Spondyloarthritis
    • Starts in adolescence & progresses
    • Males w/ spinal immobility (“bamboo spine”)
    • Involvement of sacroiliac joints
    • HLAB27+
    • Inflammation of tendinoligamentous insertion w/ bony outgrowths
  61. Reiter Syndrome
    • Classic triad of arthritis
    • Nongonococcal urethritis (usually due to Chlamydiatrachomatis) & conjunctivitis
    • HLAB27+
    • Males in 20s-30s
    • Some have hx of GI infectionsArthritis may have similar distribution w/ involvementof sacroiliac joints as seen in ankylosing spondylitis
  62. Suppurative Arthritis
    • Joint most often involved is knee
    • Causative agents include Staph aureus, Hemophilus influenzae, N. gonorrhoeae




    • Gram

    • negative bacilli (E. coli, Salmonella sp., Pseudomonas sp.)

    • < 2 yr Hemophilus influenzae

    • Older

    • children & adults Staph aureus

    • 15-25 year Neisseria gonorrhoeae w/ neutrophils as well

    • as intracellular and extracellular Gram negative cocci in pairs (diplococci)

  63. Ochronosis/ Alkaptonuria
    • Inborn error of metabolism w/ autosomal recessive inheritance
    • Homogentisic oxidase deficiency
    • Early diagnosis if mother notices black color in diaper
    • Brown-black conjuctiva
    • Early onset of crippling osteoarthritis w/ brown-black pigment deposits in articular cartilage w/ erosion
    • Low back pain initially due to spine involvement
    • Later hips & knees
    • Many loose bodies
    • Renal stones & renal failure
    • Early onset of angina and atherosclerosis
  64. Lyme Arthritis
    • Caused by Borrelia burgdorferi with reservoir white-footed mouse
    • Hard tick vector lxodes dammini or lxodes scapularis
    • Erythema chronicum migrans papule surrounded by erythematous ring
    • Follows few weeks to 2 years after untreated Lyme disease
    • Asymmetric
    • Can be destructive like rheumatoid arthritis
    • involves knees, shoulders, elbows, ankles
  65. Pigmented Villonodular Synovitis
    • Clonal proliferation
    • Knee and ankle most often involved
    • Bony erosion/destruction
    • Proliferating mononuclear cells
    • Hemosiderin deposits
    • Fibrosis & osteoclast-like giant cells
  66. Giant Cell Tumor of Tendon Sheath
    • Common mass lesion involving fingers
    • Identical histology to pigmented villonodular synovitis
  67. Li - Fraumeri
    • p53 mutation on 17p13
    • Increased risk of osteosarcoma or chondrosarcoma
    • Soft tissue sarcoma including: Rhabdomyosarcoma, Breast Carcinoma, Brain tumors, Adrenal cortical carcinoma
  68. Sturge-Weber
    • Port wine stain w/ ipsilateral venous angiomatosis of leptomeninges
    • Seizures
    • Mental retardation
  69. Klippel-Trenaunay
    • Hemangiomas
    • Dysplastic arteriopathy
    • Pain & hypertrophy of involved extremity
    • Risk of infection
  70. Tuberous Sclerosis
    • Adenoma sebaceum (angiofibroma of nasolabial region)
    • Shagreen patches
    • Bilateral multiple angiomyolipomas of kidneys
    • Subependymal giant cell astrocytoma/hamartoma
    • Lymphangioleiomyomatosis
    • Mentalretardation
    • Epilepsy/seizures
    • Cardiac rhabdomyoma w/ large “spider” cells having clear cytoplasm
    • PAS+ due to glycogen
  71. Stewart-Treves
    • Chronic lymphedema due to axillary dissection w/ breast carcinoma & radical mastectomy
    • Violaceous tumor mass due to angiosarcoma w/ anastomosing vascular channels lined w/ CD31+ pleomorphic endo cells w/ hobnail appearance plus solid growth pattern of pleomorphic CD31+ cells
  72. Beckwith Wiedemann
    • Hemihypertrophy
    • Wilms tumor
    • Increased risk of soft tissue sarcoma including rhabdomyosarcoma
    • Mutation of 11p15
  73. NF 1
    • Mutation of 17q11.2 involve neurofibromin
    • Multiple neurofibromas usually plexiform w/ gross appearance of “bag of worms”
    • Mixture of neuritis, collagen, S100 protein+ Schwann cells
    • Numerous café-au-lait macules (large, >6)
    • Lisch nodules of irides
    • Autosomal dominant inheritance
    • 5% risk of developing malignant peripheral nerve sheath tumor in deep plexiform neurofibromas
  74. NF 2
    • Mutation of 22q12 involving merlin
    • Acoustic “neuromas” actually schwannomas
    • Cellular Antoni A w/ Verocay bodies
    • Myxoid hypocellular Antoni B
    • Hyalinized vessel walls
    • Cafe-au-lait macules
    • No Lisch nodules
    • Nodular Fascitis
    • Children & young adults
    • Volar forearm
    • Reaction to repetitive trauma (chest wall of weight lifter)
    • Rapid growth
    • Central myxoid change w/ “tissue culture” like appearance
    • Proliferating mitotically active fibroblasts
    • Well circumscribed
    • Benign
  75. Proliferative Fascitis
    • Slightly older than population affected by nodular fascitis
    • Most often shoulder/upper extremity
    • Ganglion cell-like appearance to proliferating cells
    • Not as common as nodular fascitis
    • Less well circumscribed
    • Benign
  76. myositis ossificans
    • 2nd-3rd decade
    • Athlete
    • 50% associated w/ trauma
    • Proximal extremity
    • Rapidly growing mass w/ ossification occurring over 3 weeks
    • Central lesion resembles nodular fascitis w/ myxoid “tissue culture” appearance
    • Surrounding granulation tissue & woven bone
    • Peripheral lamellar bone formation
    • ZONATION
    • Benign
  77. Liposacroma
    • S100 protein+, diagnostic cell is lipoblast which is pleomorphic cells w/ varying sized fat vacuoles which indent central enlarged hyperchromatic nucleus or
    • Signet-ring like lipoblast w/ single cytoplasmic fat vacuole pushing an enlarged hyperchromatic nucleus to side
    • Well differentiated lipoma-like liposarcoma
    • Also called Atypical lipoma
    • GOOD prognosis
    • 10% have dedifferentiated component w/ worse prognosis
    • Marker ring & giant chromosomes derived from 12q13-15
  78. Myxoid Liposarcoma
    • t(12;16)
    • Typical lipoblasts mainly of which resemble signet ring cells
    • Myxoid/mucoid background
    • Delicate plexiform vascular network
    • Middle age
    • Deep soft tissue mass involving extremities or retroperitoneum
    • Also popliteal mass
  79. Round Cell Liposarcoma
    • Also t(12;16)
    • Less favorable prognosis than myxoid LPS
    • Much more cellular, Resembles lymphoma
    • Look for diagnostic lipoblasts,

    • Middle age, Deep soft tissue mass involving extremities

    • or retroperitoneum

  80. Fibromatosis
    • Benign proliferation of fibroblasts w/ long sweeping fascicles of bland spindle cells
    • Focal keloidal type collagen
    • Widely infiltrative difficult to completely excise
    • Involves abdominal wall after pregnancy
    • Classic intraabdominal fibromatosis called desmoid found in Gardner syndrome
  81. Benign Fibrous Histiocytoma
    • [Aka Dermatofibroma]
    • Middle age, mobile tan skin nodule
    • Tumor of dermis
    • Overlying epidermal hyperplasia
    • No Grenz zone
    • Heterogenous population of proliferating factor XIIIa+ fibroblasts in a storiform pattern demonstrating collagen trapping
    • Hemosiderin deposits
    • Clusters of foamy histiocytes
    • Pushing border w/ subcutaneous tissue
    • Benign
  82. Rhabdomyoma
    • Cardiac lesion often involving left ventricle
    • Remember in conjxn w/ tuberous sclerosis
    • Benign tumor of skeletal muscle
    • Classic “spider”cells w/ central nucleus & tendrils of cytoplasm extending from nucleus & clear PAS+ cyto due to glycogen
    • [cyto = cytoplasm]
  83. Rhabdomyosarcoma
    • Malignancy of skeletal muscle
    • Classic nuclear stain w/ myogenin & MYOD1
  84. Embryonal Rhabdomyosarcoma – Paratesticular
    • 1st decade median age 7 years
    • Usually of spindle cell type w/ superior prognosis
    • Small blue round cell tumor
    • Scattered tadpole cell
    • Cells w/ eosinophilic cytoplasm having cross striations
    • Myxoid change
    • Nuclear myogenin and MYOD1 positive
    • Also found in head & neck, orbit
  85. Embryonal Rhabdomyosarcoma – Botryoid Variant
    • Superior prognosis
    • Arise in a hollow viscus
    • Most often urinary bladder or vagina
    • Less often head & neck in nasal cavity
    • Toddler-6 years
    • Grossly has grape-like polypoid appearance
    • Submucosal cambium layer w/ increased cellularity
    • Underlying myxoid change w/ scattered cc & cc w/ eosinophilic cyto & cross striations
    • Nuclear myogenin & MYOD1 positive
  86. Embryonal Rhabdomyosarcoma – Not Otherwise Specified
    • 1st decade
    • Intermediate prognosis
    • Most often head & neck area
  87. Alveolar Rhabdomyosarcoma
    • 1st – 2nd decade
    • Deep soft tissue of extremities
    • WORST prognosis
    • Nested appearance
    • Clusters of small to medium sized cells, some w/ eosinophilic cytoplasm
    • Central necrosis causing dropout leading to an alveolar appearance
    • Fibrous stroma around nests w/ giant cells having a wreathlike arrangement of nuclei
    • Nuclear MYOD1+
    • Nuclear myogenin+
  88. Leiomyosarcoma
    • Malignant tumor of smooth muscle
    • > 3 mitoses per 10 HPF suspicious for malignancy outside uterus
    • Pleomorphic nuclei
    • Hemorrhage and necrosis seen grossly
    • Also larger size
    • Deep soft tissues of extremities or retroperitoneum
    • Middle age or older
  89. Alveolar Soft part sarcoma
    • Der(17) t(X;17), TFE3 positive
    • POOR prognosis
    • 15-35 years
    • Deep soft tissues of thigh or less often buttocks
    • Hematogenous spread mets to lung
    • Vascular invasion seen at presentation
    • Nested pattern
    • Large polygonal cells w/ vesicular nuclear chromatin
    • Prominent nucleoli
    • Granular eosinophilic cytoplasm & cytoplasmic PAS+ crystalline inclusions
    • Cell of origin unknown TFE3 pos
  90. Synovial Sarcoma
    • Classic t(X;18), TLE3 positive
    • 15-35 years
    • Popliteal mass w/ calcification
    • Most often biphasic tumor w BCL2+ CD99+ short spindle cells having overlapping nuclei & clusters of EMA+ cytokeratin+ epitheloid cells which may form gland-like spaces
    • Relatively poor prognosis w/ late fatal lung metastases
    • Poorly differentiated variant resembling small blue round cell tumors does worse
    • Neurofibroma & schwannoma already discussed w/ NF1 & NF2, can be solitary independent lesions, both S100 protein+
  91. Neuroblastoma
    • Prototype small blue round cell tumor
    • Adrenal mass or paravertebral
    • abdominal pain, palpable mass
    • 90% <5 years
    • Favorable <1 year at presentation
    • Low stage favorable
    • Ovoid small blue cells, stippled nuclei
    • Homer-Wright pseudorosettes around pink neuropil
    • Unfavorable N-myc amplification HSR homogenous staining regions, double minutes

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