Skin Papules – Friday Pop Quiz – 7/12

A 38-year-old African American female presents for management of several pink papules growing on her elbows and groin. She also has multiple soft, skin-colored and hypopigmented blashkolinear nodules with representative pathology shown here. Her daughter and granddaughter have similar skin findings as well as ectrodactyly. Which of the following is true regarding the disorder?

A. The disease is inherited in an X-linked recessive fashion.

B. This is caused by a mutation in the PORCN gene.

C. The disorder progresses through four stages.

D. This condition is associated with an immunodeficiency.

E. Both B and D are correct.

To find out the correct answer and read the explanation, click here.

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