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Lecture 1/2 - Dental Bone & Soft Tissue
Disorder Characteristics
55
Pathology
Post-Graduate
11/11/2011

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Term
Garnder syndrome
Definition

Mutation 5q21, mandible osteomas, abdominal desmoid (fibromatosis), familial adenomatosis polyposis with hundreds of colonic tubular adenomas and greatly increased risk of colonic carcinoma if colon not resected by age 39 years

Term
Maffucci Syndrome
Definition
Multiple enchondromas involving hands & feet, multiple hemangiomas (spindle cell hemangiomas) of hands, feet, extremities with calcified thrombi on x-ray, increased risk of chondrsarcoma (15%) after age 40
Term
Ollier's syndrome
Definition

Multiple enchondromas of hands & feet, increased risk (30-50%) of chondrosarcomas after age 40

Term
McCune-Albright syndrome
Definition

Polyostotic fibrous dysplasia with bony trabeculae having a Chinese letter arrangement without osteoblastic rimming, fibrous stroma, polyostotic often hip/femur involvement with shepherd’s crook deformity, widened cortex with ground-glass appearance, isosexual precocious puberty in females with early menarche, café-au-lait macules with irregular coast of Maine periphery, slightly increased risk of osteosarcoma

Term
Lesch-Nyhan Syndrome
Definition
Hypoxanthine guanine phosphoribosyl transferase (HGPRT) enzyme deficiency, mental retardation, choreoathetosis, hyperreflexia, clonus, self-mutilation with biting of lips, cheeks, & fingertips, early death in 2nd or 3rd decade due to infection or renal failure secondary to sodium urate deposits
Term
Osteogenesis imperfecta
Definition

Type II lethal in infancy, deforming type III, majority autosomal dominant, x-ray generalized osteopenia with multiple bone fractures, short stature, abnormalities in synthesis of type 1 collagen, blue sclera, gray opalescent teeth with chips/fractures due to dentinogenesis imperfecta

Term
Osteopetrosis
Definition
infantile severe/fatal, infection & bleeding pancytopenia due to loss of medullary cavity, no bone marrow elements, no marrow signal by MRI in infancy, bone fractures, cranial nerve palsies, carbonic anhydrase II deficiency, loss of osteoclastic activity, primitive bone & primary spongiosa, chalk white bones on x-ray with increased density and striped appearance
Term
Achondroplasia
Definition

Point mutation in Fibroblast Growth Factor Receptor 3 on 4p16.3, short extremities due to premature deposition of bony struts at growth plate, overgrowth of disorganized chondrocytes not in columns, large head with prominent forehead & depressed nasal root, normal intelligence, normal reproductivity, sporadic mutations, autosomal dominant

Term
Rickets
Definition

Vitamin D deficiency in children, causes include malnutrition, liver disease, renal insufficiency, lack of sunlight exposure, bowing of legs, knobbiness/nodules “rachitic rosary” at costochondral junctions, flattened occiput if infant, disorderly arrangement of chondrocytes with lack of columns, excess unmineralized osteoid, x-ray widened growth plate with cup shaped metaphysis and generalized osteopenia

Term
Osteomalacia
Definition

Vitamin D deficiency in adults, excess unmineralized osteoid with widened osteoid seams, generalized osteopenia, fractures, deformities with kyphoscoliosis

Term
Osteoporosis
Definition

Primary postmenopausal Type I due to decreased estrogen, decreased osteoprotegerin & increased osteoclastic activity, primary senile Type 2 in males and females, secondary causes include endocrine, e.g., Cushing’s disease or syndrome, drugs, thinning/loss of trabeculae with normal mineralization, compression fractures in thoracic/lumbar spine so short stature, increased fracture risk

Term
Hyperparathyroidism
Definition

Associated with increased serum calcium due to increased parathyroid hormone, primary single pituitary adenoma, secondary with nodular hyperplasia of 4 parathyroid glands with renal insufficiency/failure; dissecting osteitis with tunneling, increased osteoclastic activity with bone resorption, fibroblastic replacement

Term
Renal osteodystrophy
Definition
Dissecting osteitis with increased osteoclastic activity
Term
Gaucher's Disease
Definition
Usually type I, splenomegaly, pancytopenia, bone pain in long bones or spine, present in 30s-40s, autosomal recessive inheritance, mineralized infarct, widened metadiaphysis with Erlenmeyer flask appearance, replacement of marrow by sheets of histiocytes with abundant PAS+ cytoplasm resembling wrinkled tissue paper
Term
Paget's disease of bone
Definition
Caucasian, northern European, US, M>F, older males 50 plus, thickened skull bones so tight hat, headaches, hearing loss, high output cardiac failure; bowing of long bones; classic osteosclerotic phase with prominent cement lines resembling jigsaw puzzle piece or mosaic, coarse “cotton wool” trabeculae on x-ray with widened cortex and flame or blade of grass sign at end of bone, fatal secondary osteosarcoma, increased alkaline phosphates in active phase with osteoclastic resorption; increased urinary hydroxyproline in inactive osteoblastic phase with prominent cement lines ‘jigsaw puzzle pieces
Term
Osteoid osteoma
Definition
< 2 cm, young, 1st 2 decades, nocturnal pain relieved with aspirin, long bones, classic x-ray with mineralized nidus, lytic zone, and peripheral osteosclerosis, central woven bone, next to loose connective tissues with vascular proliferation, peripheral osteosclerosis, zonation (geographic IA)
Term
Enchondroma
Definition
Benign intramedullary tumor of hyaline cartilage, lobules of cartilage with one nucleus in a lacunar space, x-ray showing rings & arcs, stippled or flocculent densities, if multiple & involve hands & feet think of Maffucci syndrome or Ollier’s disease
Term
Chondrosarcoma
Definition
 Middle to old age, axial skeleton, pelvic or shoulder girdle, multiple pleomorphic nuclei in a single lacuna, mitoses, pleomorphism, conventional, low grade with favorable prognosis, high grade III 70% mets usually to lung
Term
Mesenchymal chondrosarcoma
Definition

2nd-3rd decade, diaphysis of long bones, small blue round cell tumor with islands of hyaline cartilage, poor prognosis 28% at 5 years, lytic lesion on x-ray

Term
Osteochondroma
Definition
Developmental 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
Term
Osteoma
Definition

Involve bones of sinus (ethmoid or frontal) or maxilla, thickened bony trabeculae with woven and lamellar bone, if multiple involving mandible think of Gardner syndrome 

Term
Osteosarcoma
Definition

Most common primary matrix producing malignancy of bone, malignant osteoblasts, more common in males, 2 peaks with largest in 2nd-3rd decade and second peak in elderly as secondary osteosarcoma which is unresponsive to therapy with grave prognosis; early hematogenous spread to lungs, 20% with primary osteosarcoma have lung mets at presentation, painless or painful mass most often around knee (distal femur, proximal tibia)

Term
Secondary osteosarcoma
Definition
Found in elderly, associated with radiation therapy, Paget’s disease of bone, infarct, chronic osteomyelitis
Term
High grade intramedullary osteosarcoma
Definition

Codman triangle lifting of periosteum with discontinuity forming a triangle, ivory like density on x-ray, extension of ivory like density into soft tissue indicative of cortical destruction with soft tissue extension, pathognomonic “lacy” or lacelike osteoid, many mitoses often some atypical, pleomorphic osteoblasts, osteoblastic type has ivory like density, amount of necrosis inversely related to prognosis, poor survival with increased necrosis

Term
Fibrous dysplasia
Definition
Monoostotic or polyostotic, pediatric lesion, widened cortex with ground-glass appearance, irregular bony trabeculae with Chinese letter appearance without osteoblastic rimming & fibrous stroma, facial bones, ribs, femur/hip with shepherd’s crook deformity, polyostotic form 27% without endocrinopathy; 3% McCune-Albright or Mazabraud with café-au-lait spots and GNAS1 mutation by PCR; Mazabraud cutaneous myxomas
Term
Giant cell tumor of bone
Definition
More common in females unusual among bone tumors, eccentric lytic epiphyseal lesion with sclerotic rim (geographic IA), proliferating mononuclear type cell growing in a syncytium & osteoclastic type multinucleated cells, benign, recurs if incompletely excised
Term
Ewing sarcoma/primitive neuroectodermal tumor
Definition

t(11;22), small blue round cell tumor, 1st-2nd decades, permeative moth-eaten diaphyseal lesion with cortical destruction & soft tissue extension, abnormal lamellated periosteal reaction, many mitoses, necrosis, PAS+ cytoplasm due to glycogen, CD99+, vimentin+,

aggressive tumor, requires chemotherapy, radiation, confirmation t(11;22)

Term
Plasma cell myeloma
Definition
Hypercalcemia with constipation & lethargy, low back pain, 50-80 years, multiple lytic bone lesions or generalized osteopenia, “spike” in gamma globulin region of SPEP, Bence Jones protein in urine with “spike” and free monoclonal light chains, IgG > IgA, light chain types, in marrow sheets of plasma cells with eccentric nuclei, nucleoli, and multinucleation, most common primary malignancy in bone, Rouleaux formation with RBCs in peripheral blood smear resembling stacks of coins
Term
Acute pyogenic osteomyelitis
Definition

Permeative or motheaten on x-ray with continuous periosteal reaction, necrotic bone with empty lacunae and neutrophils, most common cause Staphylococcus aureus so see Gram positive cocci in clusters, other causes if IVDU or urinary tract infection include Klebsiella species, Escherichia coli, or Pseudomonas aeruginosa; Salmonella species in sickle cell anemia patients, also Salmonella in stool; Hemophilus influenzae type b or Streptococcus agalactiae (Group B strep) in pediatric cases, lytic lesion with periosteal reaction in x-ray in chronic phase, hematogenous in infant/child or direct spread/continguous infectious focus or implanted via trauma

Term
Chronic osteomyelitis
Definition
Chronic inflammation with plasma cells, fibroblastic proliferation, necrotic bone with empty lacunae called sequestrum, overlying woven bone on necrotic bone involucrum
Term
Tuberculous osteomyelitis
Definition
If involve spine, called Pott’s disease, granulomas with central caseation and peripheral Langhans giant cells and T lymphocytes
Term
Osteoarthritis
Definition

Also known as degenerative joint disease, increasing incidence at >50+ years, principally due to mechanical wear and tear injury, increased TNFalpha & IL-1, fibrillation of articular cartilage with 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 without decrease in symptoms with activity

Term
Rheumatoid arthritis
Definition

autoimmune condition, HLADR4+, activated T lymphocytes, cytokines, female predominance, relapsing/remitting, present in 20s-30s, systemic condition so can have fever, proliferative synovitis with classic finding of lymphoid nodules & also plasma cells, proliferating synovium forms pannus which grows over and destroys articular cartilage and extends to involve supporting tendinoligamentous structures with joint instability, principally involves small joints of hands & feet, symmetric, stiffness in morning abates with activity, positive rheumatoid factor of IgM type; newer specific marker anti-cyclic citrillinated peptide positive very early in course; PIP & MCP principally involved, ulnar deviation, Swan neck deformity, subluxation at MCP joints, rheumatoid nodule with central fibrinoid necrosis and peripheral palisading of histiocytes &

lymphocytes over flexor surfaces – elbows or in visceral organs

Term
Ochronosis/alkaptonuria
Definition

Inborn error of metabolism with autosomal recessive inheritance, homogentisic oxidase deficiency, early diagnosis if mother notices black color in diaper, brown-black conjunctiva, early onset of crippling osteoarthritis with brown-black pigment deposits in articular cartilage with erosion, low back pain initially due to spine involvement, later hips & knees, many loose bodies, renal stones & renal failure, early onset of angina, coronary atherosclerosis, MI

Term
Gout
Definition
Caused by deposits of sodium urate crystals which are thin, needle-shaped showing strong negative birefringence (blue perpendicular to axis of compensation & yellow parallel), large aggregates of sodium urate called tophi seen with recurrent disease usually after history of 12+ years, treat with allopurinol, abort attack with colchicine & NSAIDs, exacerbate symptoms with 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 
Term
Suppurative arthritis
Definition
Joint most often involved is knee, causative agents include Staphylococcus aureus (Gram positive cocci), Neisseria gonorrhoeae (Gram negative cocci in pairs), Gram negative bacilli (Escherichia coli, Salmonella) Neisseria gonorrhoeae with neutrophils as well as intracellular and extracellular Gram negative cocci in pairs (diplococci)
Term
Li-Fraumeni syndrome
Definition
p53 mutation on 17p13, increased risk of osteosarcoma or chondrosarcoma, soft tissue sarcoma including rhabdomyosarcoma, breast carcinoma, brain tumors, adrenal cortical carcinoma
Term
Stage-Weber
Definition
port wine stain with ipsilateral venous angiomatosis of leptomeninges, seizures, mental retardation
Term
Carney complex
Definition
2p16, cutaneous, mucocutaneous, and atrial myxomas; melanotic schwannoma, large cell calcifying Sertoli cell tumor of testis, mucosal lentigenes, endocrine overactivity
Term
Stewart-Treves
Definition
Chronic lymphedema due to axillary dissection after radical mastectomy, violaceous tumor mass due to angiosarcoma with anastomosing vascular channels lined with CD31+ pleomorphic endothelial cells
Term
Nodlar fasciitis
Definition
Children & young adults, volar forearm, reaction to repetitive trauma (chest wall of weight lifter), rapid growth, central myxoid change with “tissue culture” like appearance, proliferating mitotically active fibroblasts, well circumscribed, benign
Term
Lipoma
Definition
Most common benign tumor, benign tumor of mature fat, middle age & older, rearrangements of 12q14-15, 6p, 13q
Term
Spindle cell lipoma
Definition
Classic mass on posterior neck/scapular region/upper back of male 60 years or older, CD34+ spindle cells with bipolar cytoplasmic processes, myxoid change, ropey collagen, admixed with mature fat, floret-like giant cells, deletion of 16q or less often deletion of 13q
Term
Angiolipoma
Definition
teens-20s, forearm, painful, mature fat and proliferation of capillaries containing fibrin thrombi 
Term
Liposarcoma
Definition

S100 protein+, diagnostic cell is lipoblast which is pleomorphic cells with varying sized fat vacuoles which indent central enlarged hyperchromatic nucleus, or signet-ring like lipoblast with 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 with worse prognosis, marker ring & giant chromosomes derived from 12q13-15

Term
Myxoid lipsarcoma
Definition

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

Term
Fibromatosis
Definition
Benign proliferation of fibroblasts with long sweeping fascicles of bland spindle cells, focal keloidal type collagen, widely infiltrative difficult to completely excise, involves abdominal wall after pregnancy; classic intra-abdominal fibromatosis called desmoid found in Gardner syndrome
Term

Malignant fibrous histiocytoma

(AKA pleomorphic sarcoma)

Definition
Middle aged adult, deep soft tissue or retroperitoneal mass, diagnosis of exclusion, pleomorphic spindle cells with storiform pattern, malignant tumor giant cells
Term
Rhabdomyosarcoma
Definition

Malignancy of skeletal muscle, classic nuclear stain with myogenin and MYOD1

Term
Ebryonal rhabdomyosarcoma
Definition

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 with increased cellularity, underlying myxoid change with scattered tadpole cells and cells with eosinophilic cytoplasm & cross striations, nuclear myogenin & MYOD1 positive. not otherwise specified, 1st decade, intermediate prognosis, most often head & neck area 

 

Term
Alveloar rhabdomyosarcoma
Definition
1st-2nd decade, deep soft tissue of extremities or buttocks, worst prognosis, nested appearance, clusters of small to medium sized cells some with eosinophilic cytoplasm, central necrosis causing dropout leading to an alveolar appearance, fibrous stroma around nests with giant cells having a wreathlike arrangement of nuclei, nuclear MYOD1+, nuclear myogenin+
Term
Leiomyoma
Definition
Uterus most common location, benign tumor of smooth muscle, can occur in esophagus or skin, interlacing fascicles of spindle cells with eosinophilic myofilaments, intersecting at 90 degree angle, perinuclear vacuoles
Term
Leiomyosarcoma 
Definition
Malignant tumor of smooth muscle, > 3 mitoses per 10 HPF suspicious for malignancy outside uterus, desmin positive pleomorphic spindle cells with red myofilaments by trichrome stain, geographic necrosis, middle aged adult, mass in deep soft tissue of extremity or retroperitoneum
Term
Alveolar soft part sarcoma
Definition
der(17)t(X;17), poor prognosis, 15-35 years, deep soft tissues of thigh or less often buttocks, hematogenous spread with mets to lung, vascular invasion seen at presentation, nested pattern, large polygonal TFE3 positive cells, prominent nucleoli, granular eosinophilic cytoplasm and cytoplasmic PAS+ crystalline inclusions, cell of origin unknown
Term
Synovial sarcoma
Definition
Classic t(X;18), 15-35 years, popliteal mass with calcification, most often biphasic tumor with BCL2+ CD99+ short spindle cells having overlapping nuclei and clusters of EMA+ cytokeratin+ epithelioid cells which may form gland-like spaces, relatively poor prognosis with late fatal lung metastases
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