Clinical Aspects of Skin and Bleeding Disorders

Questions and Answers

What is the primary etiology of the condition described?

Elevated EPO levels due to renal failure

JAK2 mutation in hematopoietic precursor cells (correct)

Abnormality in multiple myeloid progenitor cells

Autoimmune destruction of red blood cells

Which complication is NOT associated with the described condition?

Budd-Chiari syndrome

Mesenteric infarction

Pulmonary embolism

Hypotension (correct)

Which condition can cause secondary elevation of EPO levels?

Iron deficiency anemia

Dehydration

Chronic lung disease (correct)

Acute kidney injury

What percentage of cases may experience life-threatening hemorrhages?

5-10% Signup and view all the answers

Which of the following is a potential thrombotic complication?

Stroke Signup and view all the answers

What is a primary cause of elevated hemoglobin levels?

Elevated EPO levels Signup and view all the answers

Which of the following can lead to thrombosis in affected individuals?

Increased cell turnover Signup and view all the answers

What are the hematologic criteria for diagnosing the condition mentioned?

Platelet count > 500,000 platelets/mm³ Signup and view all the answers

Which symptom is related to histamine release in this condition?

Pruritus Signup and view all the answers

Hyperuricemia in this context is primarily caused by what?

High cell turnover Signup and view all the answers

What is the likely white blood cell count range in affected individuals?

12,000 - 50,000 cells/mm³ Signup and view all the answers

Which type of thrombosis is commonly observed in this condition?

Thrombosis in the mesenteric vein Signup and view all the answers

Which of the following symptoms could be a result of blood stagnation?

Cyanosis Signup and view all the answers

What is a characteristic sign observed when removing the scale from a plaque in certain skin conditions?

Auspitz sign Signup and view all the answers

Which condition is characterized by significant thickening and scaling of the skin due to cytokine release?

Psoriasis Signup and view all the answers

Which of the following environmental factors can trigger certain dermatological conditions?

Infections Signup and view all the answers

What is the primary role of the MYC gene in the pathogenesis of Burkitt lymphoma?

Increasing MYC protein expression Signup and view all the answers

Which type of Burkitt lymphoma is recognized as being associated with the Epstein-Barr Virus (EBV)?

African Burkitt Lymphoma Signup and view all the answers

Which symptoms are generally observed in lesions associated with delayed hypersensitivity reactions?

Fever and malaise Signup and view all the answers

What is NOT typically caused by a dermatophyte when considering skin conditions triggered by yeast?

Thickened scales on plaques Signup and view all the answers

How does Burkitt lymphoma typically present in terms of growth rate?

Fastest-growing human tumors Signup and view all the answers

What is the effect of 3 gene deletions in α-thalassemia?

Moderate anemia and hypoxia Signup and view all the answers

Which condition is characterized by all 4 gene deletions?

Hydrops Fetalis Signup and view all the answers

What is a potential treatment option for Hydrops Fetalis?

Hematopoietic stem cell transplantation Signup and view all the answers

How is primary Antiphospholipid Syndrome (APS) characterized?

It occurs in patients without a known autoimmune disorder Signup and view all the answers

What role does β2-glycoprotein I play in the pathogenesis of APS?

It binds to phospholipids and activates certain cells. Signup and view all the answers

What is the primary risk associated with Factor V Leiden mutation?

Increased risk of venous thrombosis Signup and view all the answers

What complication is associated with lifelong dependence on blood transfusions in Hydrops Fetalis?

Iron overload Signup and view all the answers

What does the Factor IXa/Factor VIIIa complex primarily activate in the coagulation cascade?

Factor X Signup and view all the answers

What are the quantitative defects in vWF associated with?

Type 1 and Type 3 von Willebrand disease Signup and view all the answers

What characterizes Type 2 von Willebrand disease?

Qualitative defects in vWF Signup and view all the answers

What is a common symptom of Hemophilia A?

Internal bleeding Signup and view all the answers

How is Hemophilia B inherited?

X-linked recessive Signup and view all the answers

What factor is deficient in Hemophilia A?

Factor VIII Signup and view all the answers

What is the typical age range for diagnosing Hemophilia B?

Around birth to a few months Signup and view all the answers

What type of bleeding is often associated with Hemophilia A?

Joint bleeding Signup and view all the answers

What is the expected laboratory finding in Hemophilia B?

Normal PT with prolonged PTT Signup and view all the answers

Which of the following is NOT a complication of Hemophilia?

Kidney failure Signup and view all the answers

What is a common pathogenic theory regarding melanocyte destruction in skin disorders?

Genetic defects affecting structure Signup and view all the answers

Which of the following correctly describes the manifestations of Hemophilia A?

Excessive bruising and joint swelling Signup and view all the answers

What indicates that someone may be affected by moderate to severe Hemophilia A?

Bleeding episodes requiring immediate medical attention Signup and view all the answers

Which of these factors is associated with a higher likelihood of developing dysplastic nevi?

Number of dysplastic nevi present Signup and view all the answers

What is the primary mechanism implicated in the development of Rhus dermatitis?

T-cell mediated hypersensitivity Signup and view all the answers

Which symptom is NOT typically associated with contact dermatitis?

Fever Signup and view all the answers

Which factor is cited as a major cause of genetic defects in the epidermal barrier leading to certain skin conditions?

Filaggrin protein mutations Signup and view all the answers

In which population is contact dermatitis most commonly observed?

Children Signup and view all the answers

What type of lesions are commonly observed in contact dermatitis?

Thickened plaques Signup and view all the answers

What is a characteristic feature of lesions associated with Rhus dermatitis?

Vesicular lesion formation Signup and view all the answers

Which of the following statements correctly describes the progression of contact dermatitis over time?

Improves with age and changes in exposure Signup and view all the answers

Which condition is characterized by pruritic, oozing, and crusting lesions?

Rhus dermatitis Signup and view all the answers

Which von Willebrand disease is associated with qualitative defects in vWF?

Type 2 von Willebrand disease Signup and view all the answers

What is the typical laboratory finding in patients with Hemophilia B?

Normal PT and prolonged PTT Signup and view all the answers

What age is typically associated with the diagnosis of Hemophilia A?

Around 36 months Signup and view all the answers

Which complication is commonly seen in patients with Hemophilia A?

Internal bleeding Signup and view all the answers

What genetic inheritance pattern does Hemophilia B follow?

X-linked recessive Signup and view all the answers

Which symptom is specifically associated with prolonged bleeding in Hemophilia?

Joint swelling Signup and view all the answers

What underlying condition may contribute to melanocyte destruction according to pathogenic theories?

Genetic defects Signup and view all the answers

Which type of bleeding is characteristic for patients with either mild or moderate Hemophilia A?

Secondary to trauma Signup and view all the answers

What is a characteristic clinical manifestation of Hemophilia A?

Moderate bruising Signup and view all the answers

What factor level should be checked in females who carry the Hemophilia B gene?

Factor IX Signup and view all the answers

What is a significant characteristic of dysplastic nevi compared to malanocytic nevi?

Dysplastic nevi have irregular borders and may have target-like lesions. Signup and view all the answers

Which genetic mutation is predominantly associated with dysplastic nevi?

CDKN2A mutations. Signup and view all the answers

In what way do malanocytic nevi typically present in terms of physical characteristics?

They appear as flat macules with uniform pigmentation. Signup and view all the answers

What is the significance of the genetic inheritance pattern in dysplastic nevi?

It follows an autosomal dominant inheritance pattern. Signup and view all the answers

What feature distinguishes dysplastic nevi from normal nevi regarding their appearance?

Dysplastic nevi can exhibit a 'pebbly' surface. Signup and view all the answers

What potential complication is associated with dysplastic nevi?

Higher likelihood for melanoma development. Signup and view all the answers

Which of the following statements about malanocytic nevi is incorrect?

They exhibit variable border irregularity. Signup and view all the answers

At what stage of life do malanocytic nevi become more prominent?

During pregnancy. Signup and view all the answers

What term describes the age-related changes that affect cells within the skin leading to malanocytic nevi?

Oncogenic senescence. Signup and view all the answers

Which type of nevi typically shows a tendency for greater size and ascent due to dysplastic features?

Dysplastic nevi. Signup and view all the answers

What is a common type of rash associated with Stage I of the disease described?

Erythema migrans Signup and view all the answers

What distinguishes absolute polycythemia from relative polycythemia?

Actual increase in total red cell mass due to intrinsic abnormalities Signup and view all the answers

Which of the following symptoms is associated with the late-stage of the disease?

Oligoarticular arthritis Signup and view all the answers

Which mechanism is primarily responsible for the clinical symptoms in polycythemia vera?

Red cell proliferation leading to increased blood viscosity Signup and view all the answers

What typically triggers the reactivation of Varicella-Zoster Virus (VZV)?

Compromised immune system Signup and view all the answers

What type of pain is often associated with shingles when the trigeminal nerve is involved?

Radiculoneuritis Signup and view all the answers

How does the JAK2 tyrosine kinase mutation influence the pathophysiology of polycythemia vera?

It reduces the requirements for growth factors like EPO Signup and view all the answers

What is a potential long-term consequence of polycythemia vera as it progresses?

Marrow fibrosis and extramedullary hematopoiesis Signup and view all the answers

What is a key feature of the vesicular lesions during the initial chickenpox infection?

They progress quickly from vesicles to crust Signup and view all the answers

Which of the following describes the immune response associated with the disease mentioned?

It induces significant inflammation Signup and view all the answers

What distinguishes primary absolute polycythemia from secondary polycythemia?

Intrinsic abnormalities in marrow and blood cell production Signup and view all the answers

Which of the following systems can be affected by the disease described?

Musculoskeletal system Signup and view all the answers

What is the expected appearance of the rash in shingles?

It consists of vesicular lesions along dermatomes Signup and view all the answers

During what stage do neurological manifestations become prominent in the disease process?

Stage II Signup and view all the answers

What is one characteristic feature of the rash that develops during chickenpox?

Lesions emerge in waves Signup and view all the answers

Study Notes

Dysplastic Nevus

Increased number of dysplastic nevi correlates with higher risk of melanoma.

Von Willebrand Disease

Type 1 and Type 3: Quantitative defects in von Willebrand factor (vWF).
Type 2: Qualitative defects in von Willebrand factor.

Hemophilia A

Characterized by tachycardia, pallor, bruising, abdominal pain, and prolonged PTT.
Caused by congenital deficiency of factor VIII leading to excessive bleeding.
Typically diagnosed around 36 months of age with various severities of symptoms.

Hemophilia B

Also known as Christmas disease; linked to mutations in F9 gene.
Involves prolonged PTT with normal PT; bleeding commonly occurs in joints.
Often diagnosed in the early years of life, typically identified in males.

Cutaneous Manifestations and Conditions

Sudden onset of symptoms may relate to autoimmune or viral conditions, or genetic defects.
Skin lesions typically appear as well-demarcated pink to salmon-colored plaques with silvery scales.
Auspitz sign indicates proximal vasculature with bleeding upon scale removal.
Nails can exhibit yellow-brown discoloration, pitting, and other irregularities.

Environmental Triggers

Conditions can be exacerbated by stress, infections, trauma, or medication.

Fat Tissue and Connective Tissue Conditions

Affects fat lobules with most cases localized to the lower legs, presenting with palpable lesions.
Common lesions flatten over time, transitioning to bruise-like marks as they resolve.
Infections linked to β-hemolytic streptococcal infections, tuberculosis, and certain medications.

Burkitt Lymphoma

Three types: African (Endemic), Sporadic (Non-Endemic), and HIV-Associated.
Involves translocation of the MYC gene on chromosome 8, leading to rapid cell proliferation.
Epstein-Barr Virus (EBV) linked to most endemic cases, and a subset of sporadic and HIV-associated cases.

Polycythemia Vera

Characterized by plethoric and cyanotic appearance, and elevated blood counts.
Symptoms include headaches, dizziness, hypertension, and gastrointestinal discomfort.
Complications may include thrombosis, hyperuricemia, and risk of life-threatening bleeding.

α-Thalassemia

Commonly found in Asian and African populations; severity varies with genetic deletions.
Silent carriers are asymptomatic while HbH disease results in moderate anemia.
Hydrops Fetalis is a severe condition during pregnancy, leading to significant fetal distress.

Antiphospholipid Syndrome (APS)

Associated with antiphospholipid (aPL) antibodies targeting cellular phospholipids.
Can occur independently (primary APS) or in conjunction with autoimmune diseases (secondary APS).
Leads to increased thrombosis risk due to endothelial dysfunction and complement activation.

Coagulation Pathway Factors

Factor V Leiden mutation causes resistance to inactivation, heightening thrombotic risk.
The coagulation cascade is intricate, involving multiple factors for activation and clotting.

Contact Dermatitis

T-cell mediated hypersensitivity (Type IV) characterized by pruritic, oozing, crusting lesions.
Rhus dermatitis is the most common form and is often caused by exposure to plants like poison ivy.
Genetic defects in the epidermal barrier, such as filaggrin issues, increase susceptibility to contact dermatitis.
Clinical manifestations can include thickened papules and coalescent plaques.
Commonly observed in children with improvement in symptoms as they age.

Hematological Conditions

Type 1 and type 3 von Willebrand disease involve quantitative defects in von Willebrand factor (vWF).
Type 2 von Willebrand disease features qualitative defects in vWF.

Hemophilia

Hemophilia A: Inherited disorder due to factor VIII deficiency, typically inherited from one or both parents, leading to excessive bleeding.
Common symptoms include pallor, bruising, abdominal pain, and prolonged activated partial thromboplastin time (aPTT).
Hemophilia B: X-linked recessive disorder caused by a deficiency in factor IX, mostly affects males.
Characterized by hemarthrosis (bleeding into joints) and prolonged aPTT, while PT remains normal.

Autoimmune Skin Conditions

Sudden onset with symptoms like severe itching, often presenting at night.
Pathogenic theories suggest genetic, viral, or autoimmune mechanisms may be involved.
Inflammation plays a significant role in skin manifestation.

Lyme Disease Stages

Stage I: Erythema migrans rash (Bull's eye), flu-like symptoms.
Stage II: Neurological complications, like meningitis and cranial nerve palsies.
Stage III: Chronic manifestations, including oligoarticular arthritis affecting large joints.

Varicella-Zoster Virus (VZV)

Primary infection (Chickenpox) begins with a rash that spreads from torso to extremities.
Reactivation leads to shingles (herpes zoster), characterized by vesicular lesions along dermatomes.
Shingles can cause severe pain (radiculoneuritis) and potential complications like Ramsay Hunt syndrome.

Tissue Repair

Regeneration refers to restoring damaged tissue to its normal state by replacing cells.

Polycythemia

Defined as an abnormal increase in circulating red blood cells and hemoglobin levels.
Can be relative (due to dehydration) or absolute (actual increase in red cell mass).
Polycythemia vera (PCV): A primary form characterized by increased bone marrow production due to JAK2 tyrosine kinase mutation, leading to panmyelosis and potential complications such as organomegaly.

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Description

This quiz covers essential clinical aspects of skin and bleeding disorders, including dysplastic nevi, von Willebrand disease, and hemophilia types A and B. It highlights key symptoms, diagnosis, and underlying genetic factors related to these conditions.