Pathology (Sections 1-10) Flashcards
Pathophysiology:
Wiskott-Aldrich Syndrome
Xp11.23 Mutation
Depleted systemic T-Cell Population;
Paradoxical increase in IgA, IgE
Leading cause of Mental Retardation Oblique Palpebral Fissures Epicanthal Folds Acute Megakaryoblastic Leukemia Endocardial Cushion Defect
Down Syndrome
“Dewdrops on a Rose Petal” intraepithelial vesicles
VZV
Pathophysiology:
Down Syndrome
Trisomy 21
MC: Non disjunction of Chromosome 21
Pathophysiology:
von Gierke Disease
Glucose-6-Phosphatase Deficiency
Pathophysiology:
Pompe Disease
Lysosomal Acid Maltase Deficiency
Metabolism characterized by high glucose uptake with marked preference for fermentation.
Seen in cancer cells
Warburg Metabolism
Plasma Cells with cytoplasmic granules containing immunoglobulins
Seen in Trypanosomiasis
Mott Cells
Pathophysiology: Hunter Syndrome (MPS II)
L-Iduronosulfate Sulfatase Deficiency
X-Linked
Eunuchoid Body Habitus
Mitral Valve Prolapse (50%)
Male Hypogonadism
T2DM, MS
Klinefelter Syndrome
Gaucher Cells
Distended Phagocytes:
“Crumpled Tissue Paper” Appearance
Gaucher Disease
Most common sexually-transmitted bacterial pathogen
Chlamydia trachomatis
Histology:
Maltese Cross Pattern,
Parasites without Hemozoin
Babesia
MoA: p53 Tumor Suppressor Gene
Central monitor of stress;
Synthesis of p21 arrests cycle at G1-S
Libman-Sacks Endocarditis
Systemic Lupus Erythematosus
Triad of Wiskott-Aldrich Syndrome
- Thrombocytopenia
- Immunodeficiency
- Eczema
Etiologic Agent: Stomach CA, Esophageal CA
Nitrosamine
Expressivity
Variability of phenotype expression
Etiologic Agent: Urothelial Bladder CA
Aniline
Commonly involved heart valve in fungal endocarditis
Tricuspid Valve
Pathophysiology: Hurler Syndrome (MPS I)
Alpha-L-Iduronidase Deficiency
Autosomal Recessive
Etiologic Agent: Acute Myeloid Leukemia
Benzene
Necrotizing pneumonia
Target Lesions
Sepate Hyphae at acute angles
Aspergillosis
Alternating RBC-rich and -depleted areas within thrombi?
Lines of Zahn
Autoantibody of choice for SLE screening?
ANA
Pathophysiology: Chediak-Higashi Syndrome
Defect in phagolysosome membrane traffic
Etiologic Agent: Malignant Mesothelioma
Asbestos
Beefy red ulcers with indurated borders
Klebsiella granulomatis
Granuloma inguinale
Pathophysiology: Gaucher Disease
Glucerebrosidase Deficiency
Routes of Metastasis
Carcinoma: Lymphatic
Sarcoma (+ liver, lung, and kidney): Hematogenous
Transforming Virus
Paracortical Hyperplasia at LN
Heterophile (+)
EBV
Macro-orchidism (90%)
Second leading cause of Mental Retardation
Large Mandible
Everted Ears
Fragile X Syndrome
Pathogen: Bladder SCCA
Schistosoma haematobium
Migratory Thrombophlebitis
Trosseau Syndrome
Pathophysiology: Lemierre Syndrome
Fusobacterium necrophorum infection of the lateral pharyngeal space with septic jugular vein thrombosis
Pathophysiology: Glanzmann Thrombasthenia
Gp IIb/IIIa Deficiency
Pathophysiology: Patau Syndrome
Trisomy 13
Leishmaniasis (Old World)
Visceral:
L. donovani
L. infantum
Cutaneous:
L. major
L. tropica
Oncogenes that promote VEGF production
Ras, Myc, Mapk
PTEN Mutation
Breast CA, Endometrial CA
Central coagulation necrosis surrounded by palisading macrophages and fibroblasts with abundant plasma cells in infiltrate.
Seen in Tertiary Syphilis
Gumma
Hamartoma
Disorganized histology, normal location
N-formylmethionine
Bacterial Product
Bony changes in Congenital Syphilis
Saber Shins (excessive bone growth) Saddle Nose (destruction of Vomer) Hutchinson Teeth (peg-shaped) Osteochondritis Periostitis
Pathophysiology: Hyper IgM Syndrome
Absent CD40L; Class switching not possible for B-Cells
Pathophysiology: Tay-Sachs Disease
Defective alpha-subunit of Hexosaminidase A;
Accumulation of GM2 Ganglioside
Pathophysiology: Turner Syndrome
Complete or Partial X-Chromosome Monosomy (MC: 45 XO, 57%)
Meyer-Kouwenaar Bodies
Dead worms surrounded by hyaline embeded in epithiloid granulomas
(Filariasis)
Lipofuschin
“Wear and Tear” Pigment
Sign of Free Radical Injury
Pathophysiology: Bernard-Soulier Syndrome
Gp Ib Deficiency
Pathophysiology: Ehler-Danlos Syndrome
Heterogenous group of disorders involving fibrillar collagen synthesis
(Autosomal Dominant)
Pathophysiology: Hereditary Angioedema
Decreased Response to C1 Inhibitor
Pathophysiology: Cori Disease
Debranching Enzyme Deficiency
Homogentistic Acid
Ochronosis
Seen in Alkaptonuria
Mental Retardation
Ataxic Gait
Seizures
“Happy Puppet”
Angelman Syndrome
Pathophysiology: Caisson Disease
Chronic Air Emboli in Skeletal Tissue
Pathophysiology: Anderson Disease
Branching Enzyme Deficiency
Parotid Involvement,
Testicular Swelling,
Pancreatic Fat Necrosis,
CNS Demyelination
Mumps
Leading cause of preventable blindness in Sub-Saharan Africa
Leopard/Lizard/Elephant Skin
Anterior Chamber: Iridocyclitis, Glaucoma
Atrophy of Choroid and Retina
Onchocerca volvulus
Etiologic Agent: Prostatic CA
Cadmium
Most common lysosomal storage disorder?
Gaucher Disease
Hyperkalemia
Hyperphosphatemia
Hyperuricemia
Hypocalcemia
Tumor Lysis Syndrome
Pathophysiology: Niemann-Pick Type A & B
Sphingomyelinase Deficiency;
Accumulation of Sphingomyelin
Pale, airless lungs in stillborn infants
Pneumonia Alba
Pathophysiology: Hers Disease
Hepatic Glycogen Phosphorylase Deficiency
Pathophysiology: Familial Hypercholesterolemia
LDL Receptor Mutation
Autosomal recessive types of Ehler-Danlos?
Kyphoscoliosis (VI),
Dermatosparaxis (VIIC)
Pathophysiology: Combined Variable Deficiency
Unknown
Sirtuin
Promotes longevity.
Increased activity during fasting state.
Pathophysiology: Huntington Disease
CAG Expansion
HTT Gene
Ch4p16.3
Penetrance
Proportion of a given genotype to express a certain phenotype
Nurse Cells
Infected skeletal muscle cells with loss of striations (Trichinosis)
Pathophysiology: Marfan Syndrome
Fibrillin-1 Defect
Autosomal Dominant
Pathophysiology: DiGeorge Syndrome (Velocardiofacial Syndrome)
Chromosome 22q11.2 Deletion
Pathophysiology: Paroxysmal Nocturnal Hemoglobinuria
Decreased Decay Accelerating Factor (DAF), and CD59
Cytoplasmic Inclusions:
Whorled or “Onion-skin” Configuration
Cherry Red Spot (Retina)
Tay-Sachs Disease
PTCH1 Mutation
Gorlin Syndrome
Mental Retardation Hypotonia Hyperohagia Obesity Hypogonadism Small Hands and Feet
Prader-Willi Syndrome
Hepatosplenomegaly
Cherry Red Spot (Macula)
Zebra Bodies
Niemann-Pick Disease (Type A & B)
Pathophysiology: Chronic Granulomatous Disease
Defective Oxidative Burst
Myositis Ossificans
Ectopic Bone in Muscle
Metaplasia
Mikulicz Syndrome
ANY inflammation and enlargement of the lacrimal or salivary glands
Pathophysiology: Edward Syndrome
Trisomy 18
Pathophysiology: Severe Combined Immunodeficiency
Loss in cytokine receptor function; impaired early developmnt of T-Cells (X-Linked)
ADA Deficiency; impaired DNA synthesis via deoxyadenosine accumulation (Autosomal Recessive)
Most common form of EPTB
Scrofula
Features of DiGeorge Syndrome?
CATCH 22:
Cardiac Anomalies Abnormal Facies Thymic Hypoplasia Cleft Palate Hypocalcemia
Pathophysiology: Klinefelter Syndrome
At least two X-Chromosomes and at least one Y-Chromosome (MC: XXY, 90%)
LC3
Marker for Autophagy
Pathophysiology: Prader-Willi Syndrome
Deletion of Paternal Ch15q11.2q13
Relentlessly progressive dementia and movement disorders from degeneration of Striatal Neurons
Huntington Syndrome
Difference between Ghon Focus and Ghon Complex?
Pulmonary Hilar LN Involvement
Pathophysiology: Angelman Syndrome
Deletion of Maternal Ch15q12
Pathophysiology: Isolated IgA Deficiency
Unknown; may be familial or acquired
Russell Bodies
Intracytoplasmic vacuoles seen in activated Plasma Cells
Pathogen: Chagas Disease
Trypanosoma cruzi
Triad of Sjogren Syndrome
- Dry Eyes (Keratoconjunctivitis sicca)
- Dry Mouth (Xerostomia)
- Rheumatoid Arthritis
Ovarian Streak,
SHOX Haploinsufficiency,
Webbed Neck,
Preductal Coarctation, Bicuspid AV
Turner Syndrome
Autoantibodies involved in Scleroderma?
Anti-DNA Topoisomerase I (Diffuse)
Anti-Centromere (Limited)
Anti-RNA Pol III (Renal Crisis)
Pathophysiology: Ataxia-Telangiectasia
ATM Gene Mutation
Decreased IgA and IgG; thymic hypoplasia
Durck Granulomas
Perivascular ring hemorrhages in CNS
Malaria
Yeast with prominent polysaccharide
PAS (+), Mucicarmine (+)
Soap-bubble lesions in CNS
Cryptococcus neoformans
Most frequent autoantibodies involved in Sjogren Syndrome?
Anti-Ro (SS-A) and Anti-La (SS-B)
Cestodes
Cystercerci
Ovoid, white to opalescent, grape-sized with invaginated scolex
Taenia solium
Subpleural consolidation at either the inferior upper lobe or superior lower lobe of the lung.
Ghon Focus
Pathophysiology: Factor V Leiden
Decreased response to Protein C
Lardaceous/Tapioca Spleen
Amyloidosis
Triad of Scleroderma
- Autoimmunity
- Vascular Damage
- Collagen Deposition
Fleur-de-lis pattern of necrotizing pneumonia (pale necrotic centers with hemorrhagic periphery)
Perivascular Blue Haze (coagulative vascular necrosis)
Pseudomonas aeruginosa
Choristoma
Normal histology, ectopic location
Most Common Malignant Causes of Mortality
- Lung CA
- Breast CA or Prostate CA
- Colorectal CA
Pathophysiology: McArdle Disease
Muscle Glycogen Phosphorylase Deficiency
Most common cause of death in childhood Malaria
CNS Involvement
Synovitis of the fingers
Raynaud Phenomenon
Mild Myositis
Autoantibody: Anti-RNP
Mixed Connective Tissue Disease
Leishmaniasis (New World)
Visceral:
L. chagasi
Cutaneous:
L. mexicana
L. brazilensis
Apical pulmonary consolidations in Secondary PTB
Simmon Focus
Psammoma Bodies
Dystrophic Calcifications
Pathophysiology: Fragile X Syndrome
CGG Expansion
FMR 1 Gene
Chromosome 10
Hepatosplenomegaly
Pancytopenia
Hyperpigmentation
Weight Loss
Kala-azar
Visceral Leishmaniasis
Necrosis, infiltrates, and neovascularization found near the opening of the Stensen Duct in Measles
Koplik Spots
Non-septate hyphae at right angles
Mucormycosis
Most common cause of death in Scleroderma?
PAH and Interstitial Lung Disease
Autoantibody involved in Drug-induced Lupus?
Anti-histone Antibody
Pathophysiology: Tropical Pulmonary Eosinophilia
Type I HSR to microfilariae (Filariasis)
20:4(w-6)
Arachidonic Acid
Cestodes
Hydatid Cyst
Degenerating scolices (Hydatid Sand)
Anaphylactic Reactions
Echinococcus granulosus
CREST Syndrome
Calcinosis Raynaud Phenomenon (MC extracutaneous manifestation) Esophageal Dysmotility Sclerodactyly Telangiectasia
Otherwise known as Limited Scleroderma/lcSSc
Most common site of EPTB along GI Tract
Ileum
Pathogen: Granulomatosis Infantiseptica
Listeria monocytogenes
Most common cause of fungal endocarditis
Yeast that produces a gray-white, dirty-looking pseudomembrane
Candida albicans
Pathophysiology: Bruton X-Linked Agammaglobulinemia
Btk Gene Defect
Arrest in B-Cell development
Autoantibody that correlates disease activity in SLE?
Anti-dsDNA
True or False?
Grading has greater clinical value than Staging.
False
Lepra Cells
Lipid-laden macrophages (Lepromatous Leprosy), with globi
Symbiotic bacteria required for nematode development and reproduction
Wolbachia
Hallmark of Malignancy
Anaplasia
Donvan Bodies
Gram negative coccobacilli in macrophages (Klebsiella granulomatis)
Etiologic Agent: Hepatic Angiosarcoma
Vinyl Chloride, Arsenic
Most common proto-oncogene abnormality in human tumors
RAS
Mononuclear Giant Cells with eosinophilic nuclear and cytoplasmic inclusions
Warthin-Finkeldey Cells (Measles)
MoA: Rb Tumor Suppressor Gene
Phosphorylated: Promote replication
Dephosphorylated: Arrest at G1-S
Painful genital lesions with non-indurated borders and yellow-gray exudates
Haemophilus ducreyi
Chancroid
Onset of TH1 response in Tuberculosis
2-4 weeks post-infection
Intranuclear basopihilic inclusions surrounded by a clear halo (Owl’s Eye)
Heterophile (-)
CMV
Pathogen: Cholangiocarcinoma
Clonorchis sinensis,
Opistorchis viverrni
Multinucleated syncitia with inclusions
Pink to purple intranuclear inclusions (Cowdry Type A)
HSV
Tumor factor that promotes VEGF production
Hypoxia Inducible Factor - 1 Alpha (HIF-1a)
Most common mechanism of evading apoptosis
Disruption of intrinsic apoptotic pathway
Biochemical basis of Cancer Cachexia
TNF-Alpha
Desmoplasia
Formation of abundant collagenous stroma
Pathophysiology: Li-Fraumeni Syndrome
TP53 mutation leading to increased risk of malignancy
Most Common Cancers in Children
- Acute Lymphoblastic Leukemia
- CNS Tumors
- Burkitt Lymphoma
Effect of Carbon Monoxide on ETC
Cytochrome C Oxidase (Complex 4) Inhibitor
Coma and death in Carbon Monoxide poisoning
60-70% Saturation
Ring sideroblasts
Hypochromic, microcytic anemia
Punctate basophilic stippling of RBC’s
Saturnine Gout
Lead Toxicity
Lead toxicity in children
Central neurologic symptoms due to high intestinal absorption
Cerebral Palay
Blindness
Mental Retardation
Methylmercury exposure in utero
Minamata Disease
Increases CNS toxicity of Mercury
Increased lipophilicity (metallic or organic forms)
Pathophysiology: Itai-itai Disease
Osteoporosis, osteomalacia, and renal disease in Cadmium toxicity
Measure of passive smoking
Cotinine
Most commonly abused substance
Alcohol
Microcephaly
Growth Retardation
Facial abnormalities
Reduced mental function
Fetal Alcohol Syndrome
Most common thermal injury
Thermal Burns
Hyperthermia Generalized Vasodilation Hyperkalemia Arrhythmia Rhabdomyolisis
Heat Stroke
Flag Sign (Hair)
“Flaky Paint” Skin
CNS Involvement
Intact SC Fat
Kwashiorkor Syndrome
Small opaque placques of keratin debris (Bitot Spots)
Nyctalopia
Vitamin A Deficiency
Nutritional imbalance causing Pseudotumor cerebri
Vitamin A Excess
Craniotabes
Frontal Bossing
Pectum Carinatum
Rachitic Rosary (Cartilagenous overgrowth at costochondral junction)
Rickets
Vitamin D deficiency increases the risk of developing the followng malignancies:
Colon, Prostate, and Breast
Essential enzyme in Vitamin C synthesis
L-gulonolactone oxidase
Dementia
Dermatitis
Diarrhea
Pellagra
Pathophysiology: Keshan Disease
Cardiomyopathy associated with selenium deficiency and Coxsackie Virus infection
Anorexigenic Compounds
Inreased POMC/CART activity
Leptin
PYY
Amylin
Orexigenic Compounds
NPY
AgRP
Ghrelin
Obstructive Sleep Apnea
Polycythemia
Cor Pulmonale
Pickwickian Syndrome
Obesity Hypoventilation Syndrome
Pathologically related congenital anomalies caused by MULTIPLE initiating defects
Malformation Syndrome
Primary error of morphogenesis
Malformation
Secondary DESTRUCTION of a normally developed organ
Disruption
Secondary DEFORMATION of a normally developed organ
Deformation
Constellation of anomalies caused by a SINGLE initiating abberation
Sequence
Potter Sequence
Oligohydramnios
Drug that interferes with HOX Gene expression
Valproic Acid
In maternal diabetes, inhibits development of Type II pneumocytes
Insulin
Pathophysiology: Retinopathy of Prematurity
Hyperoxia causes vasoconstriction; subsequent hypoxia increases VEGF synthesis
Striking distance in alveolar septation;
Impairment of lung development at saccular stage
Bronchopulmonary Dysplasia
Pneumatosis intestinalis
Loss of GIT mucosal integrity
Mediated by PAF
Necrotizing enterocolitis
Anasarca
Erythroblastosis Fetalis
Extramedullary hematopoiesis
Hydrops Fetalis
Pathophysiology: Cystic Fibrosis
CFTR Gene Mutation, Ch7q31.2
Failure of Chloride influx (Sweat Glands, Pancreas) or efflux (GI and Pulmonary Epithelium)
Sine qua non (Salty sweat)
Meconium ileus
Congenital bilateral absence of vas deferens
Sweat glands morphologically unremarkable
Cystic Fibrosis
Triple Risk Model
Sudden Infant Death Syndrome
- Vulnerable Infant
- Critical developmental period in homeostatic control
- Exogenous Stressor
Only safe sleeping position
Supine
Most common tumor of infancy
Hemangioma
Most common teratoma of childhood
Sacrococcygeal Teratoma
Most common extracranial solid tumor of childhood
Neuroblastoma
Most commonly diagnosed tumor of infancy
Neuroblastoma
Homer-Wright Pseudorosettes
Neuroblastoma
Tumor cells surrounding a neutrophil-rich central space
Indicators of improved prognosis in Neuroblastoma
Age (< 18 months)
Stage (1, 2A, 2B, 4S)
Maturation of Neuroblastoma
Ganglioneuroblastoma
Ganglioneuroma (with Schwannian Stroma)
Most common renal tumor of childhood
Wilms Tumor
Pathophysiology: WAGR Syndrome
WT1 Gene
Wilms Tumor
Aniridia
Genital Anomalies
Mental Retardation
Pahophysiology: Denys-Drash Syndrome
WT1 Gene
Wilms Tumor
Nephropaty
Gonadoblastoma
Pathophysiology: Beckwidth-Weidemann Syndrome
WT2 Gene
Organomegaly Macroglossia Omphalocoele Hemihypertrophy Adrenal Cytomegaly
Triphasic Tumor (Wilms)
- Blastema
- Stromal
- Epithelial
Key initiating event in essential hypertension
Reduced renal sodium excrtion
Pathophysiology: Liddle Syndrome
Gain-of-function mutation of ENaC channels in cortical collectng ducts
Hyperplastic Arteriosclerosis
“Onion-skin” Lesions
Smooth muscle cells with reduplicated BM
Necrotizing Arteriolitis
Seen in Malignant Hypertension
Vascular pathology in Essential Hypertension
Hyaline Arteriosclerosis
Calcifications of internal elastic membrane of muscular arteries without luminal narrowing
Monckeberg Medical Calcific Sclerosis
Morphology: Fatty Streak
Lipid-laden Macrophages
Morphology: Atheromatous Plaque
Fibrous Cap and Lipid Core
Level of occlusion at which tissue ischemia starts
Critical Stenosis
High-intensity Statin Benefit Groups
- Clinical ASCVD
- LDL >190 mg/dL
- T2DM PLUS
40-75 years, LDL 70-189 mg/dL, (-)ASCVD - 10 year risk > 7.5% PLUS
40-75 years, LDL 70-189 mg/dL, (-)ASCVD
Hallmark of vascular wall weakening
Cystic Medial Degeneration
Indication for aggressive management of AAA
> 5 cm
True or False?
AD classified as Stanford A are more lethal than those classified as Stanford B.
True.
Pain along course of Superior Temporal Artery
Headache
Type 4 HSR
Most common vasculitis among older individuals
Giant Cell Arteritis
Occular disturbances
“Pulseless Disease”
Involves branches of the Aorta
Type 4 HSR
Takayasu Arteritis
Visceral Ischemia
Hypertension
No pulmonary involvement
Prominent fibroid necrosis of medium-sized vessels with temporal heterogeniety
Type 3 HSR, associated wth HBV infection
Polyarteritis Nodosa
Fever
Conjunctival Injection
Polymorphous exanthem
Less prominent fibrinoid necrosis of medium-sized vessels, with temporal heterogeniety
Type 3 HSr
Important cause of MI in children
Kawasaki Disease
Hemoptysis
Hematuria
Proteinuria
Temporally homogenous fibrinoid necrosis of small vessels; (+) Leukocytoclasia
P-ANCA
Microscopic Polyangitis
Palpable purpura
GI Bleed
FSGS
Necrotizing granulomas and eosinophils with fibrinoid necrosis of small vessels
p-ANCA
Associated with IgE mediated conditions
Churg-Strauss Syndrome
Persistent pneumonitis with bilateral nodular and cavitary infiltrates
Chronic Sinusitis
Nasopharyngeal Ulcers
Renal Disease
Prominent pulmonary involvement
c-ANCA
Crescentic GN
Granulomatosis with Angiitis
Wegener Granulomatosis
Oral aphtuous ulcers
Genital ulcers
Uveitis
Neutrophilic infiltration of small- and medium-sized vessels
Behcet Syndrome
Raynaud Phenomenon
Intermittent and Instep Claudication
Superficial nodular thrombophlebitis
Thrombosis with microabscesses in small- to medium-sized vssels in the extremities
Smokers
Thromboangitis Obliterans
Buerger Disease
Cardiac Raynaud
Coronary vessel vasospasm
Pathophysiology: Trosseau Syndrome
Migratory surface thrombophlebitis in cancer patients
Pathophysiology: Milroy Disease
Familial primary lymphedema
Most common cause of lymphangitis
Streptococcus pyogenes
Dilated cutaneous blood vessels that regress spontaneously
Most common form of vascular ecthasia
Nevus Flammeus
Birthmark
Nevus Flammeus distributed along course of Trigeminal Nerve
Port-wine Stain
Port-wine Nevi Mental Retardation Seizures Hemiplegia Ipsilateral venous angiomas in cortical leptomeninges
Sturge-Weber Syndrome
Blanching, radial, pulsatile subcutaneous arteries about a central core
Spider Telangiectasia
Pathophysiology: Osler-Weber-Rendu Syndrome (Hereditary Hemorrhagic Telangiectasia)
TGF-Beta Abnormality
Cavernous hemangiomas involvng the ceebellum, brainstem, retina, pamcreas, and liver
Von Hippel-Lindau Disease
Juvenile-type hemangioma
Spontaneously regresses by age 7
Strawberry Hemangioma
Red, pedunculated lesions on the skin, gingiva, and oral mucosa in pregnancy
Granuloma Gravidarum
Type of Capillary Hemangioma
Painful tumors arising from modified smooth muscle cells
Commonly found in the distal digits
Glomus Tumor
Vascular proliferation secondary to Bartonella infection
Bacillary Angiomatosis
Vascular neoplasm secondary to HHV-8 infection
AIDS-defining lesion (Epidemic Type)
Kaposi Sarcoma
Immunostains used for Angiosarcomas
CD31
vWF