What is the underlying defect for the disease shown in picture is?
A. ATP2A2
B. ATP2C1
C. BPAG1
D. BPAG2
E. Collagen type 17
To find out the correct answer and read the explanation, click here. … 
This 8-year-old patient is brought in by his father for the lesions pictured on the lips. The father tells you that the patient is healthy aside from an episode of intestinal intussuusception several months ago. Which of the following is the most likely diagnosis?
A. LEOPARD syndrome
B. Carney complex
C. Peutz-Jeghers syndrome
D. Ba … 
What is the genetic defect of this syndrome?
A. ABCA12 gene
B. Transglutaminase 1 (TGM1)
C. GJB2 (connexin 26) gene
D. Steroid sulfatase (STS) gene
E. Profilaggrin gene
To find out the correct answer and read the explanation, click here. … 
A mutated histidine-rich protein in the patient’s condition is most likely to be
found in highest abundance in which of the following layers of the skin?
A. Stratum basale
B. Stratum corneum
C. Stratum granulosum
D. Stratum lucidum
E. Stratum spinosum
To find out the correct answer and read the explanation, click here. … 
This patient has had over 200 of these lesions. What is the most likely genodermatosis?
A. Cowden
B. Birt-Hogg-Dube
C. Gorlin syndrome
D. Carney
E. Bannayan-Riley-Ruvalcaba
To find out the correct answer and read the explanation, click here. … Continue reading "Genodermatosis – Friday Pop Quiz 5/10/2024"
