Adnexal Tumour Genoderms

Question 1

Genoderm a/w fibrofolliculomas?

Answer 1

Birt-Hogg-Dube MA: Birds don’t have follicles :P ddx: TS and MEN1 (angiofibromas)

Question 2

What is mode of inheritance and gene for Birt-Hogg-Dube?

Answer 2

AD FLCN = folliculin MA: +++ fibrofolliculomas

Question 3

What does FLCN = folliculin do?

Answer 3

involved in cell:cell adhesion

Question 4

What are 3 tumours classic for Birt-Hogg-Dube?

Answer 4

fibrofolliculomas

trichodiscomas

acrochordon-like lesions

MA: birds and hogs DJ’ing - discs, getting acrochordons in axilla

also: angiofibromas

Question 5

List 4 systemic s&s of Birt-Hogg-Dube?

Answer 5

spontaneous pneumothoraces

lung cysts

renal cell carcinomas

incr. colonic polyps

incr connective tissue nevi

incr. melanomas (controversial)

Question 6

When should you suspect Birt-Hogg-Dube?

Answer 6

5+ facial or truncal papules, 1+ fibrofolliculoma or angiofibroma

Question 7

Tx for Birt-Hogg-Dube?

Answer 7

Lifestyle: fulll exam, stop smoking (pneumothorax, cysts), annual renal MRI (RCC), careful anesthesia ( reduce chance of pneumo)

Question 8

What 2 conditions is nevus sebaceous associated with?

Answer 8

• Shimmelpenning syndrome - sporadic mutation; neurocutaneous disease with nevus sebaceous, seizures, mental retardation, dental anomalies, optho abn and heart defects
• MA: sebaceous nevus is yellow like Shimmering Penny
• Phakomatosis pigmentokeratotica – nevus sebaceous plus speckled lentiginous nevus
• MA: Fat PPK

Question 9

What is Schimmelpenning syndrome? inheritance?

Answer 9

Shimmelpenning syndrome - sporadic mutation; neurocutaneous disease with nevus sebaceous, seizures, mental retardation, dental anomalies, optho abn and heart defects

neurocutaneous so: brain+ eyes + skin + teeth and heart here

Question 10

What is phakomatosis pigmentokeratotica?

Answer 10

Phakomatosis pigmentokeratotica – nevus sebaceous (organoid, looks almost epidermal) plus speckled lentiginous nevus

Question 11

What are two syndromes associated with trichoepitheliomas?

Answer 11

• Brooke dz aka Brooke-Spiegler Syndrome
• Multiple Familial Trichoepitheliomas

Think of Brooke plucking her hair

Question 12

What is mode of inheritance and gene in Brooke (Spiegler) syndrome?

Answer 12

• CYLD aka cylindromatosis gene
• AD

Question 13

Clinical presentation of Brooke- Spiegler syndrome?

Answer 13

• centrofacial distribution of
  
  • trichoepitheliomas
  • cylindromas (CYLD gene!)
  • spiradenomas
  • increased risk of BCCs
  • risk of salivary and parotid gland tumours (Alikhan)
• Brooke gets BCCs and loves TCS = trichoeps, cylindromas, spiradenomas

Question 14

What is mutation and clinical presentation of multiple familial trichoepitheliomas?

Answer 14

• like Brooke - > CYLD, AD
• just trichoepitheliomas (no cylindromas or spiradenomas)

Question 15

List 3 syndromes a/w pilomatricomas?

Answer 15

rock hard bluish nodule on cheeks of children; loves head and neck

• myotonic dystrophy
• Gardner (AD, APC - see next slide)
• Turner - 45XO

MA: got a PILE in the GARDEN but will TURN it into something good with some MYOtonic (muscle use)

Question 16

Mutation and key features of Gardner Syndrome?

Answer 16

• AD, ATP
• epidermoid cysts and pilomatricomas (piles of soil - > epidermoid cysts and pilomatricomas)
• MSK - osteomas of the jaw
• GI: colorectal polyposis with 100% transformation to adenoCA
• eyes: congenital hypertrophy of retinal pigment epithelium
• teeth: supernumerary teeth, etc

Question 17

What syndrome is associated with spiradenomas?

Answer 17

Brooke - Spiegler, AD mutation in CYLD

Brooke is into TCS - trichoeps, cylindromas, spiradenomas

Question 18

What conditions (including a trisomy syndrome) are associated with syringomas?

Answer 18

Down syndrome

DM

Question 19

Which syndrome is associated with tricholemmomas? Mutation, inheritance?

Answer 19

Cowden’s

PTEN - AD

other PTEN syndromes: SOLAMEN, Banyan Riley Ruvalcaba

cutaneous: PPPTEN - pigmented macules on glans penis

palmo-plantar punctate keratoses and acral keratoses

oral Papillomas and mucosal neuromas

tricholemmomas

Question 20

List 5 skin tumours in Cowden?

Answer 20

A COw has gone POSTAL!!!

Punctate keratoses

Oral papillomas

Sclerotic fibromas

TricholeMOOOOOmas

Acral keratotic papules

Lipomas

Question 21

Most frequent tumours in Cowden? (non-skin)

Answer 21

1 breast, #2 thyroid

also GU (uterine etc) and GI (polyps, but may transform)

Question 22

What syndrome is tumour of follicular infundibulum/ infundibuloma associated with?

Answer 22

rarely Cowdens (not one of key tumours)

Question 23

What syndrome is associated with multiple sebaceomas/sebacous carcinomas?

Answer 23

Muir-Torre

Question 24

Gene and inheritance of Muir - Torre syndrome?

Answer 24

AD: MSH 2, MSH 6, MLH1

Question 25

List 4 skin tumours of Muir-Torre?

Answer 25

multiple sebaceous neoplasms: sebaceous adenoma, sebaceoma, and sebaceous carcinomas

multiple keratoacanthomas (often w/ sebaceous differentiation)

Question 26

What are non-skin tumours in Muir-Torre?

Answer 26

colon (most common, 50%) > GU (second most common) > gastric, ovarian, endometrial cancers, and lymphoma

extrafacial sebaceous neoplasms are very strongly a/w Muir-Torre (more so than facial lesions)

think Christina Torres (Greys) but as Gen Surg - > anyting in abdo cavity -> colon, GU, gastric, ovarian, endometrial And lymphoma

Question 27

What syndrome is associated with spiradenomas and cylindromas?

Answer 27

Brooke-Spiegler, AD CYLD (TCS)