ASCP Derm

Question 1

Two names for the collagen trapping thing in dermpath

Answer 1

Dermatofibroma
Fibrous histiocytoma
(Ankle type fibroma is one with more lipid on the ankle)

Note: angiofibroma = small vessel proliferation

Question 2

The 6 mutations tested on fish for melanoma

Answer 2

Gains: RREB1 
Loss: MYB 
Gain: CCND1 
Loss: CDKN2A
Loss: MYC

Question 3

What is epidermodysplasia veruciformis (including its associated mutation)

Answer 3

Genodermatosis with mutation in EVER1/TMC6. They are susceptible to HPV leading to wart like lesions across the body.
(“Ever”y one gets warts)

Neurological changes and IgM def are also found

Question 4

What is reed syndrome, including its mutation.

Answer 4

Multiple cutaneous and uterine lyomyomas. Plus papillary renal cell cancer.
Mutation in fumarate hydratase.

Question 5

Mutation for Muir-torre syndrome

Answer 5

MSH6/MSH2/MSH1/PMS2

Question 6

Mutation and findings with cowden syndrome

Answer 6

PTEN
Multiple trichilemmomas.
Multiple hamartomas.
Risk of thyroid, endometrial and breast cancer (endocrine organs)

Question 7

gorlin syndrome

Answer 7

PTCH1

“Nervoid bcc syndrome”

Question 8

Immune phenotype of leukemia cutis

Answer 8

CD68 (macrophages), lysozyme (in tears/eggs to breakdown bacteria) and CD43 (gene stem cells) - positive. CD20 (b cells) negative.

Question 9

List two Derm lesions associated with external beam radiation and the stain to distinguish them.

Answer 9

Atypical vascular lesion (proliferation of small vessels) and well differentiated angiosarcoma (which is MYC positive).

Question 10

Stain for malignant peripheral nerve sheath tumors

Answer 10

Loss of H3K27me3

Question 11

Brooke-spiegler syndrome: mutation and findings

Answer 11

Cylindromas

CYLD gene

Question 12

Birt-Hogg-dube syndrome

Answer 12

FLCN MUTATION

Folliculin mutation