Porphyria cutanea tarda

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Porphyria cutanea tarda

Pathology

Anemias

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

Anemia of chronic disease

Aplastic anemia

Fanconi anemia

Megaloblastic anemia

Folate (Vitamin B9) deficiency

Vitamin B12 deficiency

Fanconi anemia

Diamond-Blackfan anemia

Heme synthesis disorders

Acute intermittent porphyria

Porphyria cutanea tarda

Lead poisoning

Coagulation disorders

Hemophilia

Vitamin K deficiency

Platelet disorders

Bernard-Soulier syndrome

Glanzmann's thrombasthenia

Hemolytic-uremic syndrome

Immune thrombocytopenic purpura

Thrombotic thrombocytopenic purpura

Mixed platelet and coagulation disorders

Von Willebrand disease

Disseminated intravascular coagulation

Heparin-induced thrombocytopenia

Thrombosis syndromes (hypercoagulability)

Antithrombin III deficiency

Factor V Leiden

Protein C deficiency

Protein S deficiency

Antiphospholipid syndrome

Lymphomas

Hodgkin lymphoma

Non-Hodgkin lymphoma

Leukemias

Chronic leukemia

Acute leukemia

Leukemoid reaction

Leukemoid reaction

Dysplastic and proliferative disorders

Myelodysplastic syndromes

Polycythemia vera (NORD)

Myelofibrosis (NORD)

Essential thrombocythemia (NORD)

Langerhans cell histiocytosis

Mastocytosis (NORD)

Plasma cell dyscrasias

Multiple myeloma

Monoclonal gammopathy of undetermined significance

Waldenstrom macroglobulinemia

Hematological system pathology review

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

Assessments

Porphyria cutanea tarda

Flashcards

0 / 7 complete

USMLE® Step 1 questions

0 / 2 complete

High Yield Notes

4 pages

Flashcards

Porphyria cutanea tarda

of complete

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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