Thyroid Dysfunction – Friday Pop Quiz 1/13/2023
What mutation is responsible for this clinical presentation in a patient with both thyroid dysfunction and chronic candidal infections?
A. Autoimmune regulator (AIRE)
B. Phosphatase and tensin homolog (PTEN)
C. Tyrosine related protein 1 (TRP1)
D. Fumarate hydratase (FH)
E. Lysosomal trafficking regulator (LYST)
To find out the correct answer and read the explanation, …
What mutation is responsible for this clinical presentation in a patient with both thyroid dysfunction and chronic candidal infections?
A. Autoimmune regulator (AIRE)
B. Phosphatase and tensin homolog (PTEN)
C. Tyrosine related protein 1 (TRP1)
D. Fumarate hydratase (FH)
E. Lysosomal trafficking regulator (LYST)
To find out the correct answer and read the explanation, … Continue reading "Thyroid Dysfunction – Friday Pop Quiz 1/13/2023"
An 8-month-old boy is brought in by his mother for concerns of a rash that comes and goes for the last few months, primarily on his face and belly. His older brother suffers from asthma and often has a similar rash on the inside of his elbow and behind his knees.
The gene most commonly mutated in the photograph is also mutated in which of the following?
A.) Palmoplantar keratoderma
B.)� … 
A 2 day-old infant is being seen in the hospital for the following rash. Which of the following is not true about the infant’s disease?
A. Skin lesions typically resolve without scarring
B. There is a strong association with anti-SSA/Ro antibodies
C. There are also reports of the presence of U1RNP antibodies
D. Lesions have a predilection for the face
E. Heart block often deve … 
Which of the following conditions may be associated with dental findings resembling those seen in the genetic condition featured in the picture above?
A. Ectodermal dysplasias
B. Pachyonychia congenita type 2
C. Hyper-IgE syndrome
D. Congenital erythropoietic porphyria
E. Gardner syndrome
F. Letterer-Siwe disease
G. Papillon-Lefevre syndrome
H. Sjogren-Larsson syndrome
… 
A 70-year-old female presents for treatment of a large tumor shown on her face. It has been increasing in size for over 10 years. Which of the following medication is FDA approved for locally advanced basal cell carcinoma that is not amenable to surgical therapy?
A. Ipilimumab
B. Sonidegib
C. Erolitinib
D. Interferon alpha
E. 5-fluorouracil
To find out the correct answer and re … 