Adnexal Tumour Genoderms Flashcards
Genoderm a/w fibrofolliculomas?
Birt-Hogg-Dube MA: Birds don’t have follicles :P ddx: TS and MEN1 (angiofibromas)
What is mode of inheritance and gene for Birt-Hogg-Dube?
AD FLCN = folliculin MA: +++ fibrofolliculomas
What does FLCN = folliculin do?
involved in cell:cell adhesion
What are 3 tumours classic for Birt-Hogg-Dube?
fibrofolliculomas
trichodiscomas
acrochordon-like lesions
MA: birds and hogs DJ’ing - discs, getting acrochordons in axilla
also: angiofibromas
List 4 systemic s&s of Birt-Hogg-Dube?
spontaneous pneumothoraces
lung cysts
renal cell carcinomas
incr. colonic polyps
incr connective tissue nevi
incr. melanomas (controversial)
When should you suspect Birt-Hogg-Dube?
5+ facial or truncal papules, 1+ fibrofolliculoma or angiofibroma
Tx for Birt-Hogg-Dube?
Lifestyle: fulll exam, stop smoking (pneumothorax, cysts), annual renal MRI (RCC), careful anesthesia ( reduce chance of pneumo)
What 2 conditions is nevus sebaceous associated with?
- 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
What is Schimmelpenning syndrome? inheritance?
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
What is phakomatosis pigmentokeratotica?
Phakomatosis pigmentokeratotica – nevus sebaceous (organoid, looks almost epidermal) plus speckled lentiginous nevus
What are two syndromes associated with trichoepitheliomas?
- Brooke dz aka Brooke-Spiegler Syndrome
- Multiple Familial Trichoepitheliomas
Think of Brooke plucking her hair
What is mode of inheritance and gene in Brooke (Spiegler) syndrome?
- CYLD aka cylindromatosis gene
- AD
Clinical presentation of Brooke- Spiegler syndrome?
- 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
What is mutation and clinical presentation of multiple familial trichoepitheliomas?
- like Brooke - > CYLD, AD
- just trichoepitheliomas (no cylindromas or spiradenomas)
List 3 syndromes a/w pilomatricomas?
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)
Mutation and key features of Gardner Syndrome?
- 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
What syndrome is associated with spiradenomas?
Brooke - Spiegler, AD mutation in CYLD
Brooke is into TCS - trichoeps, cylindromas, spiradenomas
What conditions (including a trisomy syndrome) are associated with syringomas?
Down syndrome
DM
Which syndrome is associated with tricholemmomas? Mutation, inheritance?
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
List 5 skin tumours in Cowden?
A COw has gone POSTAL!!!
Punctate keratoses
Oral papillomas
Sclerotic fibromas
TricholeMOOOOOmas
Acral keratotic papules
Lipomas
Most frequent tumours in Cowden? (non-skin)
1 breast, #2 thyroid
also GU (uterine etc) and GI (polyps, but may transform)
What syndrome is tumour of follicular infundibulum/ infundibuloma associated with?
rarely Cowdens (not one of key tumours)
What syndrome is associated with multiple sebaceomas/sebacous carcinomas?
Muir-Torre
Gene and inheritance of Muir - Torre syndrome?
AD: MSH 2, MSH 6, MLH1
List 4 skin tumours of Muir-Torre?
multiple sebaceous neoplasms: sebaceous adenoma, sebaceoma, and sebaceous carcinomas
multiple keratoacanthomas (often w/ sebaceous differentiation)
What are non-skin tumours in Muir-Torre?
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
What syndrome is associated with spiradenomas and cylindromas?
Brooke-Spiegler, AD CYLD (TCS)
