Bafl Exam 3: Adnexal Neoplasms

Front 1

Mutation in keratin 81, 83, 86

Back 1

monolithrix

Front 2

Mutation in keratin 75

Back 2

PFB

Front 3

Multiple fibrofolliculomas? Gene?

Back 3

Birt Hogg Dube (BHD gene for folliculin, ch 17p11.2)

Front 4

What skin manifestations can be seen with Birt Hogg Dube? Internal manifestations?

Back 4

Skin: FAT Hogg- fibrofolliculomas, acrochordon, trichodiscomas

Internal: spontaneous pneumo, chromophobe > ochrocytoma renal cancers

Front 5

Histologic differences between pilar sheath acanthoma and dilated pore of winer?

Back 5

Pilar sheath acanthoma: isthmic origin, head and neck, esp lip, NO granular layer

Winer: infundibular origin, head and neck, + granular layer, finger like projections

Front 6

Trichoepitheliomas can be seen in what syndromes?

Back 6

Brook Spiegler (and subset Rasmussen)

Rombo

Bazex-Dupre-Christol

Front 7

Brook Speigler Syndrome, mutation? Findings?

Back 7

CYLD gene

multiple trichoepitheliomas, cylindromas, spiradenomas, milia

Front 8

How is Rombo syndrome differentiated from Bazex Dupre Christol syndrome?

Back 8

Rombo- AD, milia, hypotrichosis, trichoepitheliomas, BCC, vermiculate atrohoderma, vasodilation with cyanosis

BDC- XLD, follicular atrophoderma, BCC, hypotrichosis, hypohydrosis

Front 9

Back 9

warty dyskeratoma!

only one spot of acantholytic dyskeratosis with corps ronds and grains

Front 10

Trichoepithelioma in contrast to BCC:

staining with ck20

Back 10

Trichoep is CK20 +

BCC is CK20 -

Front 11

Most common growth in sebaceous nevi?

Back 11

trichoblastoma overall

BCC is most common malignant growth

Front 12

Back 12

trichoadenoma

you can ADD them up (looks like eye glasses?)

Front 13

Biopsy report: Basaloid Rollicular Hamartoma

What do you need to watch for?

Back 13

if generalized, work up for myasthenia gravis

Front 14

other cutaneous findings?

Back 14

COWDENS syndrome- oral papillomas

Will also see trichilemmomas, acral keratoses, sclerotic fbromas

Front 15

List a few syndromes with a PTEN mutation, high yield characteristics

Back 15

Cowden syndrome (multiple hamartoma syndrome)- tricholemmomas, acral keratoses, oral papillomas, sclerotic fibromas, gynecomastia, breast, thyroid and GI cancer

Bannayan Riley Ruvalcaba- speckled penis

Protus syndrome- overgrowth of multiple tissues

Lhermitte Duclos disease- dysplastic cerebellar gangliocytoma

Front 16

Back 16

Also cowden's syndrome--- very common to have tricholemmomas behind the ear

Front 17

Mutation in pilomatricoma?

Back 17

B catenin

Front 18

PIlomatricomas can be found in what syndromes?

Back 18

Gardner's syndrome (APC), Myotonic dystrophy (also a B catenin defect), Turner's, Rubinstein Taybi

Front 19

Mutation in organoid nevus?

Mutation in epidermal nevus?

Back 19

Organoid nevus (nevus sebaceous)- HRAS > KRAS

Epidermal nevus- NRAS, PIK3CA, FGFR3, HRAS

Front 20

What is Schimmelpenning-Feuerstein-Mims syndrome?

Back 20

mutation in HRAS or KRAS

nevus sebaceous, skeletal defects, ocular anomalities, nervous system abnormalities

my SON has a sebaceous nevus (epidermal nevus syndrome is sometimes used interchangeably)

Front 21

Progression of a nevus sebaceous?

Back 21

flat at birth --> yellow at pre puberty --> brown and bubbly at puberty

Front 22

Mutations in Muir Torre syndrome?

Back 22

MLH1, MSH2, MSH6, PMS2 -- all microsatellite instability, DNA mismatch repair genes

Front 23

Manifestations of Muir Torre syndrome?

Back 23

multiple sebaceous tumors (sebaceous adenomas most common), epitheliomas, KAs, internal malignancies, colon cancer, breast cancer, GU cancer

Front 24

Which immunohistochemistry stain is the most specific for a sebaceous tumor?

Back 24

Androgen receptor

Front 25

What syndrome is associated with Hydrocystomas? Mutation?

Back 25

Schopf- Schulz- Passarge syndrome

WNT10A

Front 26

Path difference between hidradenoma papilliferum and syringocystadenoma papilliferum?

Back 26

HPAP- looks like a maze, very hidden, so no connection to the surface, vulvar and perianal area

SPAP- looks like a maze, opens to the surface, fronds and fjords, associated with sebaceous nevi in 1/3 of cases

Front 27

Cylindroma?

Back 27

Brook speigler- see cylindroma and trichoepithelioma

Front 28

Syringomas:

eruptive a/w?

clear cell a/w?

Back 28

eruptive- downs sydroma

clear cell- diabetes

Front 29

Mutation in Cloustons syndrome?

Back 29

connexin 30 (part of the gap junction)

Front 30

Why is p63 staining so important?

Back 30

If positive, suggests that primary origin is the skin

If negative, it is metastatic TO the skin

Front 31

Aggressive Digital Papillary Adenocarcinoma characteristically metastasizes where?

Back 31

LUNGS (as opposed to LN with other adnexal tumors)

Front 32

Mucinous (eccrine) carcinoma is one of the only adnexal entities to be p63 negative, why is this weird?

Back 32

negative p63 suggests that the entity is a distant mets from another source, which is not true with this ***

MUCINOUS CARCINOMA IS P63 NEGATIVE ***