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Derm Surg questions > Syndromes > Flashcards

Syndromes Flashcards

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Dermatology Board Prep flashcards
1
Q

What are the four major features of Gorlin Syndrome?

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

What is the genetics of Gorlin Syndrome?

A

Autosomal dominant

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3
Q

What are three minor features of Gorlin syndrome?

A
  1. Skeletal abnormalities
  2. Tumors
  3. Mental retardation
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4
Q

How do you make the diagnosis of Gorlin syndrome?

A

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

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5
Q

List five skeletal abnormalities that can occur with Gorlin syndrome?

A 
bifid ribs
macrocephaly
frontal bossing
cleft plate
ectopic calcifications
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6
Q

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

A

medulloblastoma

ovarian fibroma

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7
Q

What is the genetic pattern of Rombo syndrome

A

Autosomal dominant

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8
Q

What malignancy is associated with Rombo syndrome.

A

BCC

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9
Q

What other tumors is associated with Rombo syndrome?

A

trichoepithelioma

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10
Q

Besides BCC name four features of Rombo syndrome.

A
  1. Telangiectasia and peripheral dilation
  2. Hypotrichosis
  3. atrophoderma vermiculata, (mostly cheeks and forehead)
  4. milia
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11
Q

what are the genetics of Bazex-Dupre syndrome

A

x linked autosomal dominant

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12
Q

Besides bcc list five features of Bazex-Dupre syndrome

A
  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
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13
Q

Three things that Bazex-Dupre syndrom share with Rombo syndrome

A

BCC
Milia
hypotrichosis

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14
Q

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

A

Rombo Syndrome has telangiectasia and peripheral dilation.

Bazax-Dupre has hypohidrosis.

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15
Q

How do the atrophodermas differ between Rombo and Bazex syndrome

A

Rombo is vermicularis of the face

Bazex is follicular of the dorsum of hands and feet.

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16
Q

Ferguson-Smith syndrome is what?

A

Rapid onset of multiple KAs

17
Q

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

A

SCC

18
Q

Oculocutaneous Albinism has increase risk of what cancer?

A

SCC

19
Q

Epidermodysplasia Verruciformis has increased risk of what type of cancer?

A

SCC

20
Q

What virus types are associated with Epidermodysplasia Verruciformis

A

5 and 8

21
Q

Name three features of Muir Torre syndrome

A

sebaceous tumors
Multiple KAs
Cancers of the colon and GU system

22
Q

BAP1 tumor syndrome is what?

A

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

23
Q

What are Bapomas?

A

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

24
Q

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

A

Uveal

25
Q

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

A

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

26
Q

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

A

Malignant melanoma
BCC
Bapomas

27
Q

What is the second most common cancer in FAMMM

A

pancreatic

28
Q

Name four features of FAMMM

A
  1. > 50 nevi
  2. melanoma before 30
  3. Fam hx of melanoma or pancreatic cancer
  4. Mutation CDKN2A (P16 and P14) tumor suppressor gene.
29
Q

What is the risk for melanoma in FAMMM

A

1 every three years.

30
Q

what is the Li-Fraumeni syndrome

A

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

31
Q

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

A

MSH2

32
Q

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

A

Ever1 & Ever2

HPV 5&8

33
Q

Epidermodysplasia verruciformis undergoes malignant transformation in what %

A

35 to 50%

34
Q

Name 3 syndromes you are likely to see multiple KAs

A
  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
35
Q

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

A

In immunosuppressed pts it is Photodynamic therapy.

36
Q

What is the gene mutation in Muir-Torre syndrome

A

MSH2

Derm Surg questions (26 decks)

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