Itchy Skin – Friday Pop Quiz 4/21/2023

A 15-year-old girl comes to the clinic with her mother for dry, itchy skin that waxes and wanes for years. The patient states it worsens in the dry winter, along with during times of stress and anxiety. Examination reveals the findings pictured. What is the function of the gene product most commonly mutated in for this condition?

A. Initiate and maintain intercellular adhesion of keratinocytes and epithelial cells

B. Promotes aggregation and disulfide bonding of keratin filaments in a calcium-dependent process

C. Cross-links structural proteins of the cornified envelope in a calcium-dependent process

D. Facilitates linkage between intermediate filaments and extracellular matrix of the basement membrane

E. Regulates cutaneous barrier and water-holding ability

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


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