Skin Path CIS Flashcards
Biopsy of 3 of 100 tan to brown macules (2mm-8mm) all over the body in non/sun exposed areas. Biopsy show single and clustered atypical melanocytes at the DE junction w/o upward migration, linear fibrosis of the superficial dermis, and sparse inflammatory infiltrate in dermis.
dysplastic nevus syndrome
*melanocytes
increased pigment in basal keratinocytes
ephelis
Tumor on legs of middle-age and young women. Asx or tender. indolent behavior. Hx of antecedent trauma. Factor 13a-positive dermal dendritic cells.
B9 Fibrous Histiocytoma (dermatofibroma)
Firm, tan to brown papules. B9, spindle shaped cells. Many cases demonstrate a peculiar form of overlying epidermal hyperplasia, characterized by downward transformation….
B9 Fibrous Histiocytoma (dermatofibroma)
may suddenly appear in large numbers as part of a paraneoplastic syndrome (leser trelate sign) due to stimulation of keratinocytes by transforming GF-alpha produced by tumor cells of the GI tract. FGFR3
seborrheic keratoses
Flat, coin like, waxy plaques
seborrheic keratoses
scaly, red brown patches
Mycosis Fungoides (CTCL)
CDNK2A gene LoF (skin)
dysplastic nevi
“peculiar linear fibrosis” (skin)
dysplastic nevi
BRAF (skin)
prognosis?
sporadic melanoma
better - have monoclonal antibody to BRAF
FGFR2 (skin)
SK’s and acanthosis nigricans (PCOS), achondropalsia
MSH2, MLH1 (skin)
HNPCC and Muir Torre
SHH (skin)
BCCa
34year old white F for moles that have become darker, larger, more numerous.
PE: chloasma and linea nigra present. 15 pigmented macules present; all
achrocordons (skin tag/fibroepithelial polyp)
Change in size and color during pregnancy
achrocordons (fibrepithelial polyp/skin tag) melanocytic nevi (pigmented nevus, mole)
genetic abnormaltiy of myxoid
…??
eccrine poroma location
sweat glands
pilar cyst or wen
epithelial or follicular inclusion cyst
69 year old farmer with male baldness with lesion on top of his head.
PMH: orthotopic cardiac transplant at 60yo for hypertrophic cardiomyopathy
PE: well healed scars from prior sclap excicional biopsies. Red-tan, nodular and centrally ulcerated 14cm lesions on scalp. SCattered red/tan hyperkaratotic lesions on face, scalp, arms.
Biopsy of nodular mass reveals atypical polygonal cells with intercellular bridges extending into dermis and involving lymphtics.
Squamous cell carcinoma
risk factors for SCCa
- immunosuppression (transplant)
- ionizing radiation (**UV light –> DNA damage)
urticaria pigmentosa, darier sign (wheal/erythema/edema), dermatographism (“skin drawing”)
mastocytosis
KIT
Mastocytosis, AML, GIST, hematologic diseases
Characteristic storiform (swirling) alignment of spindle cells (skin)
Dermatofibrosarcoma protuberans (DFSP)
TP53 (skin)
squamous cell carcinoma
Precursor lesions to SCCa skin
AK's (TLRs) Epidrermodysplasia verriciformis (HPV) Xeroderma pigmentsum (pyrimidine dimers) Lichen planus (chronic inflammation)
SEE MOLECULAR SLIDE FROM DOBSON
SEE SYNDROMES/SIGNS FROM DOBSON
FOR CHAPTER 25!!!
FOR CHAPTER 25
19year old female for multiple macules.
- PMH: ovarian fibroma with ascites and hydrothorax.
- PE: multiple pearly papules, some appear pigmented. Vascular telangiectasia. Some erythematous and ulcerated. Multifocal islands of basophilic cells in a mucinous matrix. Periphery palisading.
- What does she have?
- What germline mutation?
PTCH (Nevoid BCCa Syndromes or Gorlin syndrome)
table 25-3:
NBCCasyndrome
cowden
Femailial
see table
**BRAF (skin)
LoF CDKN2A
melanocytic lesions
FGFR3 (two entities)
seborrheic keratosis
acanthosis nigricans
FGFR3, IGFR1, TGF-alpha
acanthossi nigricans
PTEN
trichilmmomas and breast/endometrial/other Cancers
cowden
CYLD
brooke spiegler
CTNNB1
pilomatricoma
***TLRs
actinic keratosis (horns!)
TP53
SCCa
**SHH/PTCH
BCCa
**PDGF-beta
COL1A1
Dermofibrosarcoma protuberans
KIT
mastocytosis
TNF
psoriasis (and HLA-C)
TLR2
rosacea
dysplastic nevus syndrome has high risk of ___.
melanoma
Leser Trelat sydrome is…
sudden appearance of Seborrheic keratosis and paraneoplastic syndrome is
Birt-Hogg-Dube syndrome is…
fibroeptihelial polyps and perifollicular mesenchymal tumors
trichoepithelioma and cylindroma (CYLD mutation) is ___syndrome
brooke-spigler syndrome
Muir-Torre syndrome is what two thigng?
internal malignancy (Hereditary NonPolyposis Colorectal Carcinoma syndrome) and sebaceous adenoma
BCCa’s and other tumors (ovarian fibroma, medulloblastoma)
Gorlin/NBCCS/Basal cell nevus
mycosis fungoides with blood involvement = ___sundrome
Sezary sydrome
dermal edema and erythema (wheal) after rubbing lesion in mastocytosis is ___sign
darier sign
febrile form of erythema multiforme
SJS
ausptiz sign
punctate bleeding in psoriasis when scale is lifted