Genetic Pathways, Part 2
As part of our commitment to resident education, Cutis is excited to offer this monthly section with board-relevant, easy-to-review material.
This fact sheet details some of the important tumor suppressor pathways in dermatology and the clinical manifestations seen with these genetic derangements.
1. A 6-month-old male infant presented to your dermatology clinic with an ash-leaf macule on the right back. What is the most common gene defect seen in this condition?
a. tuberin
b. merlin
,c. neurofibromin
d. smoothened
e. hamartin
2. Bilateral acoustic neuromas are associated with what gene mutation?
a. NF1 (neurofibromin 1)
b. NF2 (neurofibromin 2)
c. PTCH1 (patched 1)
d. TSC1 (tuberous sclerosis 1)
e. TSC2 (tuberous sclerosis 2)
3. Which of the following would least likely be seen in neurofibromatosis types 1 or 2?
a. angiofibromas
b. café au lait macules
c. gliomas
d. Lisch nodules
e. neurofibromas
4. What protein is the patched 1 gene a receptor for?
a. fused
b. glioma-associated oncogene
c. smoothened
d. sonic hedgehog
e. suppressor of fused
5. A 20-year-old woman presented to your dermatology clinic with a history of numerous basal cell carcinomas. On physical examination, it is noted that she has numerous palmar pits. What finding could you find from radiograph of the head?
a. calcification of the dura
b. calcifications of the temporal lobe
c. cysts of the mandible
d. thickening of the corpus callosum
e. tumor of the cerebellum
