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MyDermatology-Bolognia > Genodermatoses-Adults > Flashcards

Genodermatoses-Adults Flashcards

1
Q

What is the function of the gene mutated in BSS

A

Tumor supressor gene that regulates proteins involved in cell growth, specifically it is a deubiquinating enzyme

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2
Q

What genes is mutated in Brooke-Spiegler?

A

Cylindromatosis gene (CYLD) on chromosome 16

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3
Q

Mode inheritance Brooke-Spiegler

A

AD

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4
Q

What are the main skin findings in Brooke Spiegler

A

Trichoepitheliomas (trichoepithelioma papulosum multiplex)
Cylindromas
Spiradenomas

Less frequently milia, epidermoid cysts

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5
Q

Cancers associated with Brooke-Spiegler?

A

Parotid and salivary gland

BCC transformation from trichoepithelioma
Spiradenocarcinoma
Cylindromcarcinoma

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6
Q

What are the limited forms of Brooke Spiegler

A

1) Multiple familial trichoepitheliomas

2) Familial cylindromatosis

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7
Q

Malignant transformation of spiradenoma? cyclindroma? Trichoepithelioma?

A

Spiradenoma–> spiradenocarcinoma
Cylindroma–> cylindromacarcinoma
Trichoepithelioma–> BCC

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8
Q

How do trichoepitheliomas present?

A
  • multiple skin coloured, cystic or solid papules or nodule on face most often with predilection for nose, upper lip and mesolabial folds and eyes
  • lesions often grouped but discrete
  • 2-4mm
  • often symmetric

other locations include scalp, neck, trunk

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9
Q

Lineage of spiradenoma?

A

Apocrine

*has never been on glabrous/non-hair bearing skin

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10
Q

How do spiradenomas present

A

solitary (mostly), deep seated 1 cm nodule, painful, often blue or pink hue with normal overlying skin
*biopsy diagnosis
Upper half body, ventral surface

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11
Q

How to cylindromas present

A

Typically present on the head and neck, especially scalp,

  • single or multiples
  • firm, rubber like
  • pink to blue
  • Can coalesce to form giant tumor on the scalp (turban tumor)
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12
Q

What is this?

A

Cylindroma

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13
Q
A
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14
Q

How does Brook Spiegler present generally

A

Multiple tumors, often head and neck predominant, usually around puberty
Can be trichoepithelioma predominant, cylindroma predominant, or multiple adnexal tumors
-Can be 0.5cm-3 cm or larger
-Can become confluent on scalp
-10-30 or hundreds
-Slow growing (if rapid growing then suspect malignant transformation)

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15
Q

What are some treatment options Brooke-Spiegler

A

electrosurgery, dermabrasion, and laser therapy

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16
Q

What % patients with BSS develop malignant transformation

A

5-10%

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17
Q

What is Muir Torre syndrome

A

AD inherited condition characterized by sebaceous tumors, KAs and internal malignancies, subset of Lynch syndrome

18
Q

What % Lynch syndrome have Muir-Torre

A

around 30%

19
Q

What gene is mutated in Muir-Torre

A

MSH2 > MLH1>MSH6

20
Q

What is type of gene is MSH2, MLH1, MSH6

A

DNA mismatch repair

21
Q

When is onset muir-torre?

A

Mid 50s

22
Q

Skin findings of Muir Torre?

A

Sebaceous tumors: Sebaceous adenoma, sebaceous carcinoma, sebaceous, seboacanthoma, cystic sebaceous tumors

Keratoacanthomas: Sometimes have sebaceous differentiation

23
Q

What is typical distribution sebaceous tumors? Distribution in Muir torre

A

Head/neck
Periocular for sebaceous carcinoma

Muir torre tend to be numerous (>2), extremities/trunk>h/n

24
Q

What internal malignancies are associated with Muir-Torre

A

Colorectal MC
GU-bladder, upper tract
Gyne-Endometrial, ovarian

Others:

  • Breast
  • stomach
  • small intestine
  • head/neck
  • hematolocial
25
Q

What screening is needed in Lynch syndrome

A 
Colonoscopy
EGD
UA + cytology 
TVUS
Endo bx 
Hysterectomy and bilateral salpingo-oophorectomy
26
Q

MENI internal organ findings

A

Parathyroid (think nephrolithiasis)
Pancreatic-duodenal (neuroendocrine)
Pituitary

3 P’s and NO M (no medullary thyroid)

27
Q

MEN1 skin findings

A 
Collagenomas
Lipomas
Angiofibromas
CALMS
hypo pigmented macules
Gingival fibromas
28
Q

MEN IIA internal organ

A

MTC (medullary thyroid cancer)
Adrenal
Parathyroid

MAP

29
Q

Skin findings MEN IIA

A

Lichen and macular amyloidosis

30
Q

MENIIB internal organs

A

MTC
Adrenal
GI ganglionneuromatosis

MAG

31
Q

MENIIB skin findings

A

Mucosal neuromas
Enlarged lips
Marfanoid habitus
Unibrow (synophyrs)

32
Q

MEN4

A 
MTC
Adrenal
Parathyroid
Pituitary 
Pancreatic

MAPPP*

33
Q

MEN4 skin findings

A

maybe combo of both

34
Q

MENI gene?

A

MEN1 -AD

35
Q

MENII gene?

A

RET-AD

36
Q

MEN4 gene

A

CDKN1B-AR

37
Q

What is another name for Cowdens syndrome

A

Multiple hamartoma syndrome

38
Q

Gene and inheritance pattern Cowdens

A

AD
Incomplete penetrance, Variable expressivity,
PTEN

39
Q

What pathway affected in Cowdens

A

m-TOR

40
Q

What non skin features characterize Cowdens

A 
Breast cancer (also fibrocystic changes, fibroadenomas, adenocarcinoma
Thyroid cancer
Endometrial cancer
Others:
Thyroid nodules
fibrocystic breasts
GI polyposis (hamartomatous polyps)
Cerebellar hamartoma

MyDermatology-Bolognia (31 decks)

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