What syndrome is fibrofolliculoma associated with?
Birt-Hogge-Dube syndrome
- Multiple fibrofolliculomas
- Increased risk of renal oncocytomas
- May present initially in adolescence with spontaneous pneumothorax
What are the derm path buzzwords for trichofolliculoma?
- “Fingers of fully formed follicles forming follicular fibers”
- “Mama and her babies”
At scan, if you see a red lobular tumor with ducts, what it is likely to be?
An acrospiroma
At scan, if you see a blue lobular tumor with ducts, what it is likely to be?
What syndrome is Muir-Torre syndrome a subtype of?
What is it due to?
What markers do you look for specifically? (at least 2)
Lynch syndrome
Due to microsatellite instability
Lumpy bumpy face (sebaceous adenomas, aggressive keratoacanthomas)
MSH-2 (more important) and MSH-6 (less important) are dimers
MLH-1 (more important) and PMS (less important) are dimers
What is the oral chemotherapy form of 5-fluorouracil?
Capecitabine
Can be used in patients with aggressive keratoacanthomas associated with Muir-Torre syndrome
What stains can be used to stain sebocytes? (3)
- EMA (outlines every vacuole)
- Androgen receptor
- NF (nuclear factor)-13a
Most things that are superficial in the dermis and look like a BCC but have clearly pilar stroma (i.e., concentric fibrous/fibroblast-rich stroma with papillary mesenchymal bodies and without tumor-stroma retraction spaces) are what, according to Elston?
The well-differentiated, superficial subtype of trichoblastoma, which are deeper soft tissue tumors
What is the special term for when something may look like a trichoepithelioma composed of 1-2 layers of basaloid cells with a conspicuous lymphohistiocytic infiltrate at the center?
What syndromes are associated with multiple trichoepitheliomas? (2)
- Brooke-Spiegler syndrome (cylindromas, trichoepitheliomas)
- Rombo syndrome
What are the histologic findings of a dilated pore of Winer versus a pilar sheath acanthoma?
- Infundibulum-like opening with little, fat, red fingers coming off of that
- “If your fingers are really fat, then it is a pilar sheat acanthoma, and if your fingers are really skinny, then it is a dilated pore of Winer.”
- These look just like the punctum of an EIC.
How may a proliferating pilar cyst and a pilomatricoma be similar?
- Both have “rolls and scrolls”
- A proliferating pilar cyst has abrupt homogenous keratinization and “looks like a redder vsion of a pilomatricoma”
- A pilomatricoma keratinizes with shadow cells and is blue
What are the features of a trichilemmoma?
What syndrome is this associated with?
- Glycogenated cells
- Palisaded
- Thickened, glassy basement layer
- “It looks like the ORS of a hair follicle.”
- Associated with Cowden syndrome (multiple hamartomas of the GI tract, aggressive breast cancer, thyroid cancer, warty facial bumps)
- Bilateral mastectomies are often performed with Cowden syndrome patients
What are the histologic findings of a pilomatricoma?
Multiple pilomatricomas are associated with what disease?
- Well-defined basaloid islands, sometimes with a “rolls and scrolls” appearance
- Keratinizes into “ghost cells” like the hair matrix
- If multiple → consider myotonic dystrophy
What is a nevus sebaceus associated with?
- Trichoblastoma (most common)
- SPAP
- BCC
What is the likely diagnosis for red “donuts or sometimes paired as eyeglasses” in the dermis?
- Trichoadenoma
- Differentiates towards the infundibulum of the hair follicle
What is the name of a tumor that differentiates toward every part of the hair follicle?
- Benign tumor
- Not associated with any syndromes
