Syndromes

Question 1

What are the four major features of Gorlin Syndrome?

Answer 1

1. multiple BCCs
2. Palmar plantar pitting
3. Odontogenic cysts
4. Calcification of Falx cerebri

Question 2

What is the genetics of Gorlin Syndrome?

Answer 2

Autosomal dominant

Question 3

What are three minor features of Gorlin syndrome?

Answer 3

1. Skeletal abnormalities
2. Tumors
3. Mental retardation

Question 4

How do you make the diagnosis of Gorlin syndrome?

Answer 4

two major features
one major feature and 1st degree relative
two minor features and 1st degree relative
multiple childhood BCCs

Question 5

List five skeletal abnormalities that can occur with Gorlin syndrome?

Answer 5

bifid ribs
macrocephaly
frontal bossing
cleft plate
ectopic calcifications

Question 6

Name two tumors besides bcc that may be associated with Gorlin syndrome.

Answer 6

medulloblastoma

ovarian fibroma

Question 7

What is the genetic pattern of Rombo syndrome

Answer 7

Autosomal dominant

Question 8

What malignancy is associated with Rombo syndrome.

Answer 8

BCC

Question 9

What other tumors is associated with Rombo syndrome?

Answer 9

trichoepithelioma

Question 10

Besides BCC name four features of Rombo syndrome.

Answer 10

1. Telangiectasia and peripheral dilation
2. Hypotrichosis
3. atrophoderma vermiculata, (mostly cheeks and forehead)
4. milia

Question 11

what are the genetics of Bazex-Dupre syndrome

Answer 11

x linked autosomal dominant

Question 12

Besides bcc list five features of Bazex-Dupre syndrome

Answer 12

1. Hypotrichosis (and fragil hair trichorrhexis nodosa, pili torti)
2. Hypohydroisis
3. Follicular atrophoderma (circumscribed areas dorsum of hands and feet sometimes arms and legs)
4. Mila
5. Epidermal cysts

Question 13

Three things that Bazex-Dupre syndrom share with Rombo syndrome

Answer 13

BCC
Milia
hypotrichosis

Question 14

Two things that Bazex-Dupre syndrome doesn’t share with Rombo syndrome.

Answer 14

Rombo Syndrome has telangiectasia and peripheral dilation.

Bazax-Dupre has hypohidrosis.

Question 15

How do the atrophodermas differ between Rombo and Bazex syndrome

Answer 15

Rombo is vermicularis of the face

Bazex is follicular of the dorsum of hands and feet.

Question 16

Ferguson-Smith syndrome is what?

Answer 16

Rapid onset of multiple KAs

Question 17

What is the leading cause of death in Dystrophic Epidermolysis Bullosa?

Answer 17

SCC

Question 18

Oculocutaneous Albinism has increase risk of what cancer?

Answer 18

SCC

Question 19

Epidermodysplasia Verruciformis has increased risk of what type of cancer?

Answer 19

SCC

Question 20

What virus types are associated with Epidermodysplasia Verruciformis

Answer 20

5 and 8

Question 21

Name three features of Muir Torre syndrome

Answer 21

sebaceous tumors
Multiple KAs
Cancers of the colon and GU system

Question 22

BAP1 tumor syndrome is what?

Answer 22

A hereditary autosomal dominant mutation in one of your BAP1 genes which is a tumor suppressor gene.

Question 23

What are Bapomas?

Answer 23

benign reddish brown intradermal 5mm papules composed of epithelioid melanocytes with large vesicular nuclei.

Question 24

Where is the most common site of melanoma in BAP1 tumor syndrome

Answer 24

Uveal

Question 25

Besides Uveal melanoma what are some other malignant tumors associated with BAP1 syndrome?

Answer 25

mesothelioma, renal cell carcinoma, lung, ovarian, breast and pancreatic cancer

Question 26

What are the three most common cutaneous lesions associated with BAP1 syndrome?

Answer 26

Malignant melanoma BCC Bapomas

Question 27

What is the second most common cancer in FAMMM

Answer 27

pancreatic

Question 28

Name four features of FAMMM

Answer 28

1. >50 nevi 2. melanoma before 30 3. Fam hx of melanoma or pancreatic cancer 4. Mutation CDKN2A (P16 and P14) tumor suppressor gene.

Question 29

What is the risk for melanoma in FAMMM

Answer 29

1 every three years.

Question 30

what is the Li-Fraumeni syndrome

Answer 30

sarcomas (like leiomyosarcoma) leukemias and brain cancer P53 mutation but no increase SCCs or BCCs

Question 31

90% of autosomal dominant Murr Torre syndrome is due to the mutation in which gene

Answer 31

MSH2

Question 32

Epidermodysplasia verruciformis which has hypopigmented tinea versicolor macules and verruca plana like papules is associated with what genes and virus

Answer 32

Ever1 & Ever2 | HPV 5&8

Question 33

Epidermodysplasia verruciformis undergoes malignant transformation in what %

Answer 33

35 to 50%

Question 34

Name 3 syndromes you are likely to see multiple KAs

Answer 34

1. Ferguson-Smith (inherited) 100s spontaneously resolve 2. Grzybowski syndrome 100s-1000s may not resolve. not inherited, don't progress to SCC, persist if not txed. 3. Muir Torre syndrome tendency to develop KAs

Question 35

which treatment gives best clearing for AKs in immunosuppressed patients? Photodynamic therapy or 5FU

Answer 35

In immunosuppressed pts it is Photodynamic therapy.

Question 36

What is the gene mutation in Muir-Torre syndrome

Answer 36

MSH2