Patho Exam 3 Worksheet PDF

Patho Exam 3 Worksheet **Instructions:** For each condition listed below, complete the following components: 1. **Pathophysiology:** Describe the underlying pathophysiological mechanisms, including any relevant genetic defects or mutations. 2. **Physical Examination:** Detail the characteri...

Patho Exam 3 Worksheet **Instructions:** For each condition listed below, complete the following components: 1. **Pathophysiology:** Describe the underlying pathophysiological mechanisms, including any relevant genetic defects or mutations. 2. **Physical Examination:** Detail the characteristic findings on physical examination, such as lesion types, rash characteristics, or alterations in blood cells (RBC, WBC). 3. **Etiology:** Explain the causes of the disease, including any non-genetic factors if applicable. 4. **Complications/Prognostic Indicators:** Identify possible complications of the disorder and any prognostic indicators that could impact morbidity or mortality. 5. **Age Considerations:** Discuss how the age of the patient might influence the likelihood of the disorder. - *Impetigo contagiosa*: smaller pustules - *Impetigo bullosa*: larger pustules - **A**symmetry, irregular **B**order, variegated **C**olor, increasing **D**iameter, **E**volution or change over time (especially rapid) - [Mast-cell dependent, IgE dependent]- exposure to many different antigens (pollens, foods, drugs, insect venom) and is an example of a localized immediate hypersensitivity (type I) reaction triggered by the binding of antigen to IgE antibodies that are attached to mast cells through Fc receptors. - [Mast-cell dependent, IgE independent]- results from substances that directly incite the degranulation of mast cells, such as opiates, certain antibiotics, and radiographic contrast media. - [Mast-cell independent, IgE independent]- triggered by local factors that increase vascular permeability. One form is initiated by exposure to chemicals or drugs, such as aspirin, that inhibit cyclooxygenase and arachidonic acid production. The precise mechanism of aspirin-induced urticaria is unknown. A second form is hereditary angioneurotic edema, caused by an inherited deficiency of C1 inhibitor that results in excessive activation of the early components of the complement system and production of vasoactive mediators. +-----------+-----------+-----------+-----------+-----------+-----------+ | | Patho | Exam | Etiology | Complicat | Age | | | | | | ions | | +-----------+-----------+-----------+-----------+-----------+-----------+ | **[Eczema | Results | Red | Exposure | As long | | | tous | from | papuloves | to | as the | | | Dermatiti | external | icular | allergens | allergen | | | s | applicati | crusted | | remains | | | (atopic)] | on | lesions | 5 types | on the | | | {.underli | of an | in a | | skin it | | | ne}** | antigen | sometimes | 1. Atopic | can be | | | | (e.g., | linear | 2.Allergi | spread to | | | | poison | fashion | c | non | | | | ivy) or a | that is | contact | exposed | | | | reaction | persisten | | areas | | | | to an | t | 3\. Drug | (rolling | | | | internal | can | related | around in | | | | circulati | develop | | bed | | | | ng | acanthosi | 4. | without | | | | antigen | s | Photoecze | showering | | | | (which | and | matous | ) | | | | may be | hyperkera | | | | | | derived | tosis | 5. | | | | | from | and | Primary | | | | | ingested | appear as | irritant | | | | | food or a | raised | | | | | | drug). | scaling | | | | | | T-cell | plaques | | | | | | mediated | | | | | | | Hypersens | | | | | | | itivity | | | | | | | (IV) | | | | | | | | | | | | | | Rhus | | | | | | | Dermatiti | | | | | | | s | | | | | | | is most | | | | | | | common | | | | | +-----------+-----------+-----------+-----------+-----------+-----------+ | **[Contac | Genetic | Lesions | Genetic | Aesthetic | Most | | t | defects | pruritic, | atopy | considera | common in | | Dermatiti | in the | oozing, | | tion | children | | s]{.under | epidermal | crusting, | | | but | | line}** | barrier | coalescen | | | improves | | | protein | t | | | with age | | | filaggrin | papule; | | | | | | have been | thickenin | | | | | | cited as | g | | | | | | a major | of the | | | | | | cause. | skin or | | | | | | The | lichenifi | | | | | | stratum | cation | | | | | | corneum | occurs | | | | | | layers | | | | | | | with this | | | | | | | mutation | | | | | | | (loss-of- | | | | | | | function | | | | | | | of | | | | | | | filaggrin | | | | | | | ) | | | | | | | have | | | | | | | lower | | | | | | | levels of | | | | | | | natural | | | | | | | moisturiz | | | | | | | ing | | | | | | | factor | | | | | | | and are | | | | | | | also | | | | | | | deficient | | | | | | | in | | | | | | | extracell | | | | | | | ular | | | | | | | lipids | | | | | | | including | | | | | | | ceramides | | | | | | |. | | | | | +-----------+-----------+-----------+-----------+-----------+-----------+ - Infections like HSV, Mycoplasma, histoplasmosis, coccidioidomycoses, typhoid, leprosy - Exposure to sulfa, pcn, barbiturates, salicylates, hydantoins, and antimalarials. - Cancer - Collagen vascular disease like SLE, dermatomyositis, polyarteritis nodosa ------------ ---------------------------------------------------------------------------------------------------------------------------------------------------------- -------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- -------------------------- -------------------------------------------------------------------------------------------------- --------------------------------- Patho Exam Etiology Complications Age Malnocytic As the cells age they sink in the skin and go through oncogenetic senasence which is why they are rarely every melanoma producing. Tan to brown realiticely flat macules, uniformly pigmented, or small raised paupules with round even boarders Genetic inheritance seen None really More prominent during pregnancy Dysplastic Autosomal dominant, mutations in NRAS and BRAF as well. Inherited loss of function of CDKN2A which encodes p16 and negative regulator for CDK4 and CDK6. Larger in size than malanocytic, \> 5mm, with dysplatic nevi sydnroms could have hundreds of them. flat macules, slightly raised plaques with a "pebbly" surface, or **target-like lesions** with a darker raised center and irregular flat periphery. Genetic inheritance Increaed likelihood for melanoma development. The more dysplastic nevus the higher the liklihood ------------ ---------------------------------------------------------------------------------------------------------------------------------------------------------- -------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- -------------------------- -------------------------------------------------------------------------------------------------- --------------------------------- - *Type 1 and type 3 von Willebrand disease are associated with quantitative defects in vWF.* - *Type 2 von Willebrand disease is characterized by qualitative defects in vWF* +-----------+-----------+-----------+-----------+-----------+-----------+ | | Patho | Exam | Etiology | Complicat | Age | | | | | | ions | | +-----------+-----------+-----------+-----------+-----------+-----------+ | Hemo A | a | tachycard | Typically | Internal | the | | | hereditar | ia, | inherited | bleeding, | median | | | y | pallor, | from one | inflammat | age at | | | hemorrhag | bruising, | or both | ion | diagnosis | | | ic | abdominal | parents | of joint | is 36 | | | disorder | pain and | | lining, | months | | | resulting | distensio | | bruising, | for | | | from a | n, | | infection | people | | | congenita | hypotensi | | , | with mild | | | l | on, | | adverse | hemophili | | | deficit | and | | reaction | a, | | | of factor | muscle or | | to | 8 months | | | VIII that | joint | | clotting | for those | | | manifests | swelling | | factor | with | | | as | | | treatment | moderate | | | protracte | prolonged | | | hemophili | | | d | PTT and a | | | a, | | | and | normal PT | | | and 1 | | | excessive | | | | month for | | | bleeding | | | | those | | | either | | | | with | | | spontaneo | | | | severe | | | usly | | | | hemophili | | | or | | | | a | | | secondary | | | | | | | to trauma | | | | | +-----------+-----------+-----------+-----------+-----------+-----------+ | Hemo B | **an | Hemarthro | caused by | bleeding | usually | | | inherited | sis; | an | inside | diagnosed | | "Christma | disease | muscle | inherited | your | **around | | s | caused by | hematoma | X-linked | body, | birth or | | Disease) | a defect | | recessive | especiall | within | | | in the F9 | PTT is | trait | y | the first | | | gene**, | prolonged | | in your | few years | | | leading | and the | Hemophili | knees, | of life** | | | to | PT is | a | ankles | | | | insuffici | normal | B is most | and | | | | ent | | commonly | elbows | | | | productio | | identifie | | | | | n | | d | | | | | of the | | in males; | | | | | blood | | however, | | | | | clotting | | females | | | | | factor IX | | who carry | | | | | | | the gene | | | | | | | may have | | | | | | | mild or, | | | | | | | rarely, | | | | | | | more | | | | | | | severe | | | | | | | symptoms | | | | | | | of | | | | | | | bleeding | | | | | | | and | | | | | | | should | | | | | | | have | | | | | | | their | | | | | | | factor IX | | | | | | | level | | | | | | | checked | | | +-----------+-----------+-----------+-----------+-----------+-----------+ - Sudden onset of the condition - Pathogenic theories: Autoimmune involvement, viral cases, decreased melanocyte survival, genetic defects affecting melanocyte structure, neurochemical destruction of melanocytes. - Severe, constant itching, especially at night,is a hallmark symptom. - Much of the disease pathology is due to the immune response to the bacteria and the accompanying inflammation. - Affects skin, nervous system, heart, and musculoskeletal system - Stage I: - Single or multiple erythematous papules, forming a "Bull's eye" rash (erythema migrans) - rash may burn, itch, or sting. - Flu-like symptoms: fever, chills, fatigue, HA, and myalgia. - Stage II: - Neurological manifestations: meningitis, cranial nerve palsies (facial nerve), and peripheral neuropathy - Stage III: - Late-stage. Oligoarticular arthritis, commonly affecting large joints like the knees. - After initial infection (chickenpox), VZV establishes latent infection in sensory ganglia (particularly dorsal root ganglia). - Reactivation, years later, leads to SHINGLES. Occurs more frequently in dermatomes innervated by the trigeminal ganglia. - VZV can evade immune responses and is reactivated when the immune system is compromised. - Transmitted via respiratory aerosols during chickenpox, causing widespread vascular skin lesions. - Primary infection - Chickenpox - Rash appears \~2 weeks after respiratory infection - Lesions emerge in waves, starting on the torso and spreading to the head and extremities. - Lesions progress rapidly from macules and vesicles ("dew drops on a rose petal"), then rupture and crust over within a few days. - Usually heals without scarring unless vesicles are superinfected by bacteria. - Reactivation - SHINGLES - Vesicular lesions appear along dermatomes, often unilaterally. - Intense itching, burning, or sharp pain (radiculoneuritis) accompanies the lesions. - Pain is severe when trigeminal nerves are involved, possibly leading to Ramsay Hunt syndrome (facial paralysis if the geniculate nucleus is involved). - If lesions involve the eye (ophthalmic division of the trigeminal nerve) - ***MEDICAL EMERGENCY*** - 2 processes for tissue repair - Regeneration: restoration of damaged tissue to its normal state by replacing damaged components with new cells. - Scar formation (Connective tissue deposition): When tissues are incapable of regeneration, or the damage to supporting structures is too severe, the injury is repaired by laying down connective (fibrous) tissue, resulting in scar formation. - Regeneration - Dependent on the proliferative capacity of the cells and the integrity of the extracellular matrix (ECM) - Proliferation is stimulated by growth factors and driven by stem cells (in labile tissues) - Requires a fully intact structural framework to regenerate - Scar formation - Involves angiogenesis, fibroblast migration, collagen synthesis, and tissue remodeling. - Repair starts with the formation of granulation tissue and ends with fibrous tissue deposition. - Growth factors (e.g., TGF-β) regulate fibrogenesis and ECM balance via matrix metalloproteinases (MMPs) and tissue inhibitors (TIMPs). - Primary closure: - Edges of the wound are closely approximated allowing healing by primary intentions. (e.g, sutures, staples, or adhesive) - Secondary closure: - Wound edges are left open and heal by secondary intention, with new tissue filling in from the base and sides of the wound (scarring) - Delayed primary closure: - The wound is left open initially (e.g., to treat infection or swelling) and later closed either primarily or with *graft or flap*. - The rickettsiae enter the bloodstream and multiply, infecting endothelial cells of blood vessels, leading to vasculitis and inflammation throughout the body. - Initial presentation: The tick bite may appear as a papule or macule, often with or without a central punctate mark. - 4-8 days post-bite: onset of HA, fever, N/V, and muscle aches. - Rash development: typically starts on the writs and ankles and may spread to the trunk, palms, and soles - Rash can be macular (flat), maculopapular (raised), or petechial (small red spots due to bleeding under the skin). - Nonspecific and can mimic other conditions like ehrlichiosis and anaplasmosis, which have similar clinical presentations. - Involves HLA gene variants, which sensitized CD4+ T-cells. These cells infiltrate the skin, triggering the overexpression of cytokines, including TNF-ɑ and various interleukins. - The cytokine release stimulates keratinocyte proliferation, leading to the characteris thickened, scaly skin lesions. This causes a cycle of exaggeration and remission. - Typical lesion: well-demarcated, pink to salmon-colored plaques covered by loosely silver-while scales. - *Auspitz sign*: Removal of the scale from the plaque reveals small bleeding points due to proximity of vessels to the overlying skin. - Nails - yellow-brown discoloration (resembling an oil slick), pitting, dimpling, thickening, and separation of the nail plate from the nail bed (onycholysis) - Triggered by environmental factors such as stress, infections, trauma, and certain medications. - This ***yeast*** is part of the normal skin flora but can overgrow under certain conditions, leading to hypopigmented or hyperpigmented patches on the skin. - It is *not caused by a dermatophyte*, differentiating it from other fungal infections. - A fine peripheral scale is often noted, when the lesions are scraped. -- -- -- -- -- -- -- -- -- -- -- -- - Affects the lobules of fat or the connective tissue separating fat into lobules. - Most commonly affecting the lower legs and presenting with subacute onset - Pathogenesis is unclear but is thought to involve delayed hypersensitivity reaction to microbial or drug-related antigens. - Lesions are more palpable. - Fever and malaise. - Lesions flatten over weeks and become bruise-like as they resolve without residual scarring. - Infections: β-hemolytic streptococcal infection, TB, coccidioidomycosis, histoplasmosis, leprosy. - Medications: sulfonamides, oral contraceptives - Systemic: sarcoidosis, inflammatory bowel disease - 3 categories: 1. African (Endemic) Burkitt Lymphoma 2. Sporadic (Non-Endemic) Burkitt Lymphoma 3. HIV-Associated Burkitt Lymphoma - Pathogenesis involves translocations of ***MYC gene on chromosome 8***, leading to increased MYC protein expression, driving rapid cell proliferation. - Burkitt lymphoma is the fastest-growing human tumors - ***[Epstein-Barr Virus (EBV) is associated with nearly all cases of endemic Burkitt]*** lymphoma, 25% of HIV-associated cases, 15-20% of sporadic cases. -------------------------------------------------------------------------------------------------------------------------- -------------------------------------------------- -------------------------------------------------------------------------------------------------------- **Endemic Burkitt Lymphoma** **Sporadic Burkitt Lymphoma** **HIV-associated Burkitt Lymphoma** Mass involving the ***[mandible]*** and may involve abdominal viscera (kidneys, ovaries, and adrenal glands) Mass in the ***[ileocecal region]*** Share features of both endemic and sporadic forms, but more commonly linked with systemic involvement. -------------------------------------------------------------------------------------------------------------------------- -------------------------------------------------- -------------------------------------------------------------------------------------------------------- - ***[MYC gene translocation on chromosome 8]*** - EBV - major factor in endemic - About 75% of patients have type 1 antibodies that block vitamin B12 from binding IF. - Type II antibodies prevent the binding to vitamin B12. - Autoreactive T-cell response triggers gastric mucosal injury and the formation of autoantibodies. This leads to the destruction of IF-secreting cells, causing vitamin B12 deficiency. - ***Demylination of the dorsal and lateral spinal tracts can lead to CNS lesions, spastic, paraparesis, sensory ataxia, and severe paresthesia of the lower limbs.*** - ***[Elevated homocysteine and methylmalonic acid levels.]*** - Serum antibodies - ***[Shiny,glazed,"beefy" red tongue (atrophic glossitis) and CNS lesion.]*** - Diagnosis confirmed by an outpouring of reticulocytes and a rise of hematocrit levels after parenteral vitamin B12 administration. +-----------------------+-----------------------+-----------------------+ | | ***POLYCYTHEMIA*** | **POLYCYTHEMIA VERA | | | | (PCV)** | +-----------------------+-----------------------+-----------------------+ | **PATHO** | **-** Abnormally high | \- A primary absolute | | | number of circulating | polycythemia caused | | | red cells, usually | by increased marrow | | | with increased | production of red | | | hemoglobin levels. | cells, granulocytes, | | | | and | | | \- Can be: | platelets(panmyelosis | | | | ). | | | 1\. Relative: | | | | Hemoconcentration | \- Red cell | | | from | proliferation is | | | ***[dehydration]{.und | responsible for most | | | erline}*** | clinical symptoms. | | | (no actual increase | | | | in red cell mass). | \- JAK2 tyrosine | | | | kinase mutation | | | 2\. Absolute: Actual | results in decreased | | | increase in total | requirements for EPO | | | red cell mass due | and other growth | | | to intrinsic | factors. | | | abnormalities or | | | | response to | \- Progresses to a | | | ***[elevated | spent phase with | | | erythropoietin | marrow fibrosis and | | | (EPO) | increased | | | levels]** | extramedullary | | | *. | hematopoiesis in the | | | | spleen and liver, | | | \- Primary (*in bone | causing organomegaly. | | | marrow*) results from | | | | intrinsic | | | | abnormalities of | | | | hematopoietic | | | | precursors. | | | | | | | | \- Secondary | | | | (*another mediator*) | | | | due to elevated EPO | | | | levels. | | +-----------------------+-----------------------+-----------------------+ | **EXAM** | Plethoric and | \- Hemoglobin \> 16 | | | cyanotic due to blood | g/dL, hematocrit ≥ | | | stagnation and | 55%. | | | deoxygenation in | | | | peripheral vessels. | \- White cell count: | | | | 12,000 - 50,000 | | | \- Symptoms: HA, | cells/mm³. | | | dizziness, HTN, | | | | gastrointestinal | \- Platelet count: \> | | | discomfort. | 500,000 | | | | platelets/mm³. | | | \- ***[Pruritus and | | | | peptic ulceration due | \- Thrombosis: DVT, | | | to histamine release. | MI, stroke in 25% of | | | ]*** | cases; hepatic, | | | | portal, and | | | \- ***[Hyperuricemia | mesenteric vein | | | from high cell | thrombosis possible. | | | turnover,]{.underline | | | | }*** | \- Bleeding | | | gout seen in 5-10% of | (epistaxis, gum | | | cases. | bleeding); | | | | life-threatening | | | | hemorrhages in 5-10% | | | | of cases. | +-----------------------+-----------------------+-----------------------+ | **ETIOLOGY** | **-** Primary: | \- Caused by JAK2 | | | Intrinsic | mutation in | | | hematopoietic | hematopoietic | | | precursor | progenitor cells, | | | abnormality. | leading to | | | | uncontrolled red cell | | | \- Secondary: | production. | | | Elevated EPO levels | | | | from chronic hypoxia | | | | (e.g., lung disease, | | | | high altitude) or | | | | EPO-secreting tumors. | | +-----------------------+-----------------------+-----------------------+ | **COMPLICATIONS** | Thrombosis/bleeding | Thrombosis: DVT, MI, | | | | CVA, Budd-Chiari | | | Hyperuricemia/gout | syndrome, portal vein | | | | thrombosis, | | | | mesenteric | | | | infarction. | | | | | | | | Bleeding: epistaxis, | | | | gym bleeding, | | | | | | | | Hyperuricemia | | | | | | | | ***Spent phase***: | | | | marrow fibrosis → | | | | pancytopenia and | | | | increased | | | | extramedullary | | | | hematopoiesis | +-----------------------+-----------------------+-----------------------+ | **AGE** | Common in older | Older adults (median | | | adults | age - 60 years) | +-----------------------+-----------------------+-----------------------+ - α-Thalassemia is ***[caused by inherited deletions in the α-globin genes, leading to reduced or absent synthesis of α-globin chains.]*** - A normal individual has four α-globin genes ***[(two on each chromosome 16)]***, and the severity of α-thalassemia depends on how many α-globin genes are affected. - Anemia results from both inadequate hemoglobin synthesis and the accumulation of excess unpaired β, γ, and δ-globin chains. - ***Silent Carrier State***: Barely detectable reduction in α-globin chain synthesis; individuals are asymptomatic with slight microcytosis (small red blood cells). - ***α-Thalassemia Trait*** (minor): Presents similarly to β-thalassemia minor with microcytosis, minimal or no anemia, and no abnormal physical signs. Normal or low levels of HbA2. - ***HbH Disease**:* Characterized by moderately severe anemia, similar to β-thalassemia intermedia, due to accumulation of HbH (β-globin tetramers) which leads to tissue hypoxia and intracellular inclusions. - ***Hydrops Fetalis***: The most severe form, involving severe fetal anemia due to the formation of hemoglobin Barts (γ-globin tetramers), leading to fetal distress. 1. Silent Carrier: 1 gene deleted 2. Α-thalassemia train: 2 genes deleted 3. HbH Disease: 3 genes deleted 4. Hydrops Fetalis: All 4 genes deleted - Common in Asians or African. More frequent in Asians. - Silent Carrier: Asymptomatic, no complications. - α-Thalassemia Trait: No significant complications, though it may affect offspring if one parent carries the −/− haplotype. - HbH Disease: Leads to moderate anemia and hypoxia. - Red cell sequestration and phagocytosis in the spleen due to HbH oxidation, causing splenomegaly. - Hydrops Fetalis: - Severe fetal distress in the third trimester. - Lifelong dependence on blood transfusions with a high risk of iron overload. - Potential curative treatment with hematopoietic stem cell transplantation. - Silent Carrier and a-Thalassemia Trait: adulthood - HbH Disease: childhood - Hydrops Fetalis: in utero with fetal distress in 3rd trimester of pregnancy - Can be primary or secondary to other autoimmune diseases (e.g., SLE) - Pathogenesis is complex and not fully understood, but aPL antibodies target anionic phospholipids or phospholipid-associated proteins (e.g., cardiolipin, ***[β2-glycoprotein I]***). - β2-glycoprotein I binds to phospholipids on endothelial cells, monocytes, platelets, and thromboplasts, and is believed to play a major role in APS by activating these cells. - APS leads to a prothrombotic state due to complement activation, inhibition of fibrinolysis, and endothelial dysfunction. - Primary APS: Occurs in patients without a known autoimmune disorder (accounts for \~50% of APS cases). - Secondary APS: Associated with other autoimmune diseases, most commonly systemic lupus erythematosus (SLE). - The production of aPL antibodies (including anti-β2-glycoprotein I antibodies) is central to the pathogenesis. - Deficiencies in Factor V and other clotting factors (e.g., VII, VIII, IX, X) are associated with moderate to severe bleeding disorders, while prothrombin deficiency is usually incompatible with life. - ***Factor V Leiden is a mutation that makes Factor V resistant to inactivation by protein C, leading to hypercoagulability and an increased risk of venous thrombosis.*** - In the coagulation cascade: - The Factor VIIa/tissue factor complex activates Factor IX. - The Factor IXa/Factor VIIIa complex is the most important activator of Factor X. - Thrombin also plays a significant role by activating Factors V, VIII, and XI in a feedback mechanism to amplify coagulation. - Primary hypercoagulability (genetic) due to Factor V Leiden and secondary hypercoagulability (acquired).