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Question 1: Which of the following is characterized by red blood cell (RBC) porphyrins?

  1. Erythropoietic Protoporphyria (EPP)

  2. Porphyria Cutanea Tarda (PCT)

  3. Hereditary Coproporphyria

  4. Acute Intermittent Porphyria (AIP)

  5. Variegate Porphyria (VP)

 

Acute Intermittent Porphyria (AIP) has normal porphyrins in RBCs.

Variegate Porphyria (VP) has normal porphyrins in RBCs.

Question 2: A patient of Puerto Rican heritage presents to clinic with cream colored hair, photophobia, and frequent nosebleeds. On physical exam, the patient is noted to have multiple petechiae and pigmented nevi. What syndrome does this patient have?

 

  1. Oculocutaneous Albinism Type II

  2. Griscelli Syndrome

  3. Chediak-Higashi Syndrome

  4. Piebaldism

  5. Hermansky-Pudlak Syndrome

 

Oculocutaneous Albinism Type II is characterized by autosomal recessive inheritance, mutation in P gene with decreased eumelanin synthesis, generalized pink-white/cream color, blue to yellow-brown irides, nystagmus, photophobia, pigmented nevi, and increased squamous/basal cell carcinoma.

Griscelli Syndrome is characterized by autosomal recessive inheritance, mutations in Rab 27A and MyO5A (myosin V), silvery hair, partial albinism, pancytopenia with increased infections, progressive neurologic deterioration.

Chediak-Higashi Syndrome is characterized by autosomal recessive inheritance, LYST gene mutation, light blond/silvery hair, oculocutaneous albinism, ataxia, giant lysosomal granules, recurrent infections, photophobia, ataxia, muscle weakness, and other hematologic abnormalities.

Piebaldism is characterized by autosomal dominant inheritance, mutation in c-kit proto-oncogene, depigmented patches with islands of hyperpigmentation and white forelock.

 

Dermatology MOC Question Bank

Over 900 Dermatology MOC:PQRS targeted review questions (and ABD Exam). The BoardVitals Dermatology MOC qbank offers questions, answers, explanations, and images specific to the Dermatology exam.

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BoardVitals offers an excellent set of Dermatology Board Review Questions… this question bank has the images, questions, and explanations that together make for an Excellent Dermatology Practice Exam.” - Tamara Lazic, MD, Attending, Department of Dermatology, Mount Sinai