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32 Cards in this Set
- Front
- Back
Mutation in keratin 81, 83, 86 |
monolithrix |
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Mutation in keratin 75 |
PFB |
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Multiple fibrofolliculomas? Gene? |
Birt Hogg Dube (BHD gene for folliculin, ch 17p11.2) |
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What skin manifestations can be seen with Birt Hogg Dube? Internal manifestations? |
Skin: FAT Hogg- fibrofolliculomas, acrochordon, trichodiscomas
Internal: spontaneous pneumo, chromophobe > ochrocytoma renal cancers |
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Histologic differences between pilar sheath acanthoma and dilated pore of winer? |
Pilar sheath acanthoma: isthmic origin, head and neck, esp lip, NO granular layer
Winer: infundibular origin, head and neck, + granular layer, finger like projections |
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Trichoepitheliomas can be seen in what syndromes? |
Brook Spiegler (and subset Rasmussen)
Rombo
Bazex-Dupre-Christol |
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Brook Speigler Syndrome, mutation? Findings? |
CYLD gene
multiple trichoepitheliomas, cylindromas, spiradenomas, milia |
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How is Rombo syndrome differentiated from Bazex Dupre Christol syndrome? |
Rombo- AD, milia, hypotrichosis, trichoepitheliomas, BCC, vermiculate atrohoderma, vasodilation with cyanosis
BDC- XLD, follicular atrophoderma, BCC, hypotrichosis, hypohydrosis |
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warty dyskeratoma!
only one spot of acantholytic dyskeratosis with corps ronds and grains |
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Trichoepithelioma in contrast to BCC:
staining with ck20 |
Trichoep is CK20 +
BCC is CK20 - |
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Most common growth in sebaceous nevi? |
trichoblastoma overall
BCC is most common malignant growth |
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trichoadenoma
you can ADD them up (looks like eye glasses?) |
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Biopsy report: Basaloid Rollicular Hamartoma
What do you need to watch for? |
if generalized, work up for myasthenia gravis |
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other cutaneous findings? |
COWDENS syndrome- oral papillomas
Will also see trichilemmomas, acral keratoses, sclerotic fbromas |
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List a few syndromes with a PTEN mutation, high yield characteristics |
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
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Also cowden's syndrome--- very common to have tricholemmomas behind the ear |
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Mutation in pilomatricoma? |
B catenin |
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PIlomatricomas can be found in what syndromes? |
Gardner's syndrome (APC), Myotonic dystrophy (also a B catenin defect), Turner's, Rubinstein Taybi |
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Mutation in organoid nevus?
Mutation in epidermal nevus? |
Organoid nevus (nevus sebaceous)- HRAS > KRAS
Epidermal nevus- NRAS, PIK3CA, FGFR3, HRAS |
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What is Schimmelpenning-Feuerstein-Mims syndrome? |
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) |
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Progression of a nevus sebaceous? |
flat at birth --> yellow at pre puberty --> brown and bubbly at puberty |
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Mutations in Muir Torre syndrome? |
MLH1, MSH2, MSH6, PMS2 -- all microsatellite instability, DNA mismatch repair genes |
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Manifestations of Muir Torre syndrome? |
multiple sebaceous tumors (sebaceous adenomas most common), epitheliomas, KAs, internal malignancies, colon cancer, breast cancer, GU cancer |
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Which immunohistochemistry stain is the most specific for a sebaceous tumor? |
Androgen receptor |
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What syndrome is associated with Hydrocystomas? Mutation? |
Schopf- Schulz- Passarge syndrome
WNT10A
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Path difference between hidradenoma papilliferum and syringocystadenoma papilliferum? |
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 |
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Cylindroma? |
Brook speigler- see cylindroma and trichoepithelioma |
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Syringomas:
eruptive a/w?
clear cell a/w? |
eruptive- downs sydroma
clear cell- diabetes |
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Mutation in Cloustons syndrome? |
connexin 30 (part of the gap junction) |
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Why is p63 staining so important? |
If positive, suggests that primary origin is the skin
If negative, it is metastatic TO the skin |
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Aggressive Digital Papillary Adenocarcinoma characteristically metastasizes where?
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LUNGS (as opposed to LN with other adnexal tumors) |
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Mucinous (eccrine) carcinoma is one of the only adnexal entities to be p63 negative, why is this weird? |
negative p63 suggests that the entity is a distant mets from another source, which is not true with this ***
MUCINOUS CARCINOMA IS P63 NEGATIVE *** |