Genetic Mutation – Friday Pop Quiz 8/6/2021
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A 20-year-old male presents with jaundice, hepatomegaly, blue lunulae, and the ocular finding as shown. What is the genetic mutation in this condition?
A. Phenylalanine hydroxylase (PAH) gene
B. α-galactosidase A (GLA) gene
C. ATP7B gene
D. Glucocerebrosidase (GBA) gene
E. Cystathionine β-synthase (CBS) gene
To find out the correct answer and read the explanation, click here. …
A 20-year-old male presents with jaundice, hepatomegaly, blue lunulae, and the ocular finding as shown. What is the genetic mutation in this condition?
A. Phenylalanine hydroxylase (PAH) gene
B. α-galactosidase A (GLA) gene
C. ATP7B gene
D. Glucocerebrosidase (GBA) gene
E. Cystathionine β-synthase (CBS) gene
To find out the correct answer and read the explanation, click here. … Continue reading "Genetic Mutation – Friday Pop Quiz 8/6/2021"
A 28-year-old male presents with follicular pustules on the upper trunk and mid-chest. Many of the lesions are arising on an erythematous base. On exam, you notice the eruption favors areas with terminal hairs and is also present on the scalp and beard, buttocks and lower extremities. You suspect he may have superficial folliculitis. What is the most common cause of this condition which would … 
What is the most likely diagnosis in an otherwise well appearing 3-year-old child with a spontaneous eruption of the rash seen below?
A. Pityriasis rosea
B. Erythema dyschromicum perstans
C. Café-au-lait macules
D. Pigmentary mosaicism
E. None of the above
To find out the correct answer and read the explanation, click here.
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Additional manifestations of which disorder range from poikiloderma of the scalp to central flagellate erythema to erosions and ulcerations:
A. Systemic lupus erythematosus
B. Scleroderma
C. Sarcoidosis
D. Dermatomyositis
E. Behcet's disease
To find out the correct answer and read the explanation, click here.
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A 4-month-old African-American male presents for the rash shown. The rash has been present for the past two months. The mother describes that the baby tends to be bothered by this rash and can be seen trying to rub his feet together. Which of the following tests should be performed next?
A. KOH
B. Mineral oil prep
C. Skin biopsy
D. Bacterial culture
E. Fungal culture
To find o … 