Porphyria cutanea tarda

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Porphyria cutanea tarda

EXam 1

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Blood components

Erythropoietin

Blood groups and transfusions

Platelet plug formation (primary hemostasis)

Coagulation (secondary hemostasis)

Role of Vitamin K in coagulation

Clot retraction and fibrinolysis

Introduction to the immune system

Cytokines

Innate immune system

Complement system

T-cell development

B-cell development

MHC class I and MHC class II molecules

T-cell activation

B-cell activation and differentiation

Cell-mediated immunity of CD4 cells

Cell-mediated immunity of natural killer and CD8 cells

Antibody classes

Somatic hypermutation and affinity maturation

VDJ rearrangement

Contracting the immune response and peripheral tolerance

B- and T-cell memory

Anergy, exhaustion, and clonal deletion

Vaccinations

Type I hypersensitivity

Type II hypersensitivity

Type III hypersensitivity

Type IV hypersensitivity

Skin anatomy and physiology

Hair, skin and nails

Wound healing

Iron deficiency anemia

Beta-thalassemia

Alpha-thalassemia

Sideroblastic anemia

Anemia of chronic disease

Lead poisoning

Hemolytic disease of the newborn

Glucose-6-phosphate dehydrogenase (G6PD) deficiency

Autoimmune hemolytic anemia

Pyruvate kinase deficiency

Paroxysmal nocturnal hemoglobinuria

Sickle cell disease (NORD)

Hereditary spherocytosis

Aplastic anemia

Fanconi anemia

Megaloblastic anemia

Folate (Vitamin B9) deficiency

Vitamin B12 deficiency

Diamond-Blackfan anemia

Acute intermittent porphyria

Porphyria cutanea tarda

Hemophilia

Vitamin K deficiency

Bernard-Soulier syndrome

Glanzmann's thrombasthenia

Hemolytic-uremic syndrome

Thrombotic thrombocytopenic purpura

Von Willebrand disease

Disseminated intravascular coagulation

Heparin-induced thrombocytopenia

Antithrombin III deficiency

Factor V Leiden

Protein C deficiency

Protein S deficiency

Antiphospholipid syndrome

Hodgkin lymphoma

Non-Hodgkin lymphoma

Chronic leukemia

Acute leukemia

Myelodysplastic syndromes

Polycythemia vera (NORD)

Myelofibrosis (NORD)

Essential thrombocythemia (NORD)

Langerhans cell histiocytosis

Multiple myeloma

Monoclonal gammopathy of undetermined significance

Waldenstrom macroglobulinemia

Microcytic anemia: Pathology review

Non-hemolytic normocytic anemia: Pathology review

Intrinsic hemolytic normocytic anemia: Pathology review

Extrinsic hemolytic normocytic anemia: Pathology review

Macrocytic anemia: Pathology review

Heme synthesis disorders: Pathology review

Coagulation disorders: Pathology review

Platelet disorders: Pathology review

Mixed platelet and coagulation disorders: Pathology review

Thrombosis syndromes (hypercoagulability): Pathology review

Lymphomas: Pathology review

Leukemias: Pathology review

Plasma cell disorders: Pathology review

Myeloproliferative disorders: Pathology review

Food allergy

Anaphylaxis

Asthma

Rheumatic heart disease

Myasthenia gravis

Graves disease

Pemphigus vulgaris

Serum sickness

Systemic lupus erythematosus

Poststreptococcal glomerulonephritis

Graft-versus-host disease

Contact dermatitis

Transplant rejection

Cytomegalovirus infection after transplant (NORD)

Post-transplant lymphoproliferative disorders (NORD)

X-linked agammaglobulinemia

Selective immunoglobulin A deficiency

Common variable immunodeficiency

IgG subclass deficiency

Hyperimmunoglobulin E syndrome

Isolated primary immunoglobulin M deficiency

Thymic aplasia

DiGeorge syndrome

Severe combined immunodeficiency

Adenosine deaminase deficiency

Ataxia-telangiectasia

Hyper IgM syndrome

Wiskott-Aldrich syndrome

Leukocyte adhesion deficiency

Chediak-Higashi syndrome

Chronic granulomatous disease

Complement deficiency

Hereditary angioedema

Asplenia

Thymoma

Ruptured spleen

Immunodeficiencies: T-cell and B-cell disorders: Pathology review

Immunodeficiencies: Combined T-cell and B-cell disorders: Pathology review

Immunodeficiencies: Phagocyte and complement dysfunction: Pathology review

Assessments

Porphyria cutanea tarda

Flashcards

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USMLE® Step 1 questions

0 / 2 complete

High Yield Notes

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Flashcards

Porphyria cutanea tarda

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Questions

USMLE® Step 1 style questions USMLE

of complete

A 45-year-old man presents to the office for evaluation of a blistering skin rash. He was out in the sun with his family at a baseball game several days ago. Later that evening, he developed a severe blistering rash on the forearms, hands, neck, and legs. He has tried over-the-counter topical emollients but to little effect. The patient has had similar rashes in the past that eventually self-resolved. The first of such episodes occurred around 10-years ago. Past medical history is also significant for hyperlipidemia and chronic hepatitis C virus infection. He does not consume alcohol, tobacco, or illicit substances. Vitals are within normal limits. Physical examination reveals small ruptured blisters diffusely across the forearms, hands, neck, and lower legs.

 

A defect in which of the following steps of the heme biosynthesis pathway is most likely responsible for this patient’s symptoms?

External References

First Aid

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Porphyria cutanea tarda p. 432

Sporadic porphyria cutanea tarda p. 171

Summary

Porphyria cutanea tarda is a rare metabolic disorder that is caused by an abnormality in the enzyme uroporphyrinogen decarboxylase. Symptoms of this disorder usually involve the skin, as it can lead to blisters and skin discoloration. Treatment for this disorder usually involves medications such as hydroxychloroquine and phlebotomy, as well as lifestyle changes such as avoiding alcohol.

Elsevier

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