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41 Cards in this Set
- Front
- Back
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Mutations in what genes are associated with melanoma?
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-CDKN2A-tumor suppressor gene
-BRAF-T:A to A:T mutation |
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What does CDKN2A encode?
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p 16 ( loss entails loss of G1 checkpoint and no cell cycle arrest after UV radiation) and p14 (upstream reg. of p53)
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Active dermal menlanocytes by the time of birth disappear from all but these 3 locations?
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head and neck, distal extremities, presacral area.
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melanocytes interact with keratinocytes via?
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cadherins
-melanocytes fail to form desmosomal connections with keratinocytes |
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AP3 gene is related to?
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adaptor protein with sorting tyrosinase.
R to Hermansky Pudlak |
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Tyrosinase is an enzyme that requires what cofactor?
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Copper
-Menkes is a disease with a defective Cu-ATPase, so the kinky hair is hypopigmented. |
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Why does PKU have pigmentary dilution?
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Elevated levels of L-phenylalanine result from a deficiency in PHENYLALANINE HYDROXYLASE that converts L-phenylalanine to L-tyrosine.
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OCA2-what gene and what gene product?
("Tyrosinase Positive Albinism") |
OCA2 gene, product is P protein (transmembrane protein in the ER that regulates trafficking of tyrosinase)
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Syndrome with mosaic activating mutation in gene that encodes the G protein Gsa with result of the CamP cascade being permantly turned on?
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McCune-Albright syndrome.
-continued transcription of CREB-controlled genes leads to hyperplasia of long bones and endocrine organs (mosaic fashion) |
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MSH is a post-translational processing product of what major gene?
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POMC
(primarily expressed in pituitary gland) |
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Dykeratosis Congenita?
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M/C XLR,
DKC1 gene produces dyskerin that interacts with telomerase. -reticulated hyperpigmentation of neck in 1st decade, increased risk of malignancies. -leukoplakia -Bone Marrow problems |
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Naegeli-Franceschetti-Jadossohn Syndrome?
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AD, Mut K14
Reticulated hyperpigmentation by 2 yo and fading in adolescence -hypohidrosis and heat intoleracne, dental anomalies -PP hyperkeratosis with absent or decreased dermatoglyphs |
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Dowling-Degos Disease
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Reticulated hyperpigmentation of flexures
-comedome-like lesions on the back and neck -pitted facial scars -AD with variable penetrance -loss of function mutation in gene for K5 |
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Piebaldism has what kind of mutation in c-kit?
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Inactivating
-cannot be activated by steel factor Mastocytosis has an activating c-kit mutation |
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What type of cell-cell connection is between melanocytes and keratinocytes?
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cadherins
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Findings in Hermansky Pudlack?
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AP3, B3a subunit mutation
-Puerto Rican -Pigment incont. -Pulm Fibrosis -Platelet problems -Photophobia -Pigmented Nevi |
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Competitive inhibitors of of tyrosinase?
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hydroquinone, L-phenylalanine
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McCune Albright gene mutation?
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GNAS1
"GNasty" |
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Defece in Griscelli syndrome associated with neurologic problems?
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MYOSIN 5Amicrotubule related
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Griscellis syndrome gene defect associated with CD8 T cells and hematophagocytic syndrome?
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RAB27A-microtubule related
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What receptor is defective in people with red hair?
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MC1-R, oxygen radicals related to increased pheomelanin production (Cysteinyl dopas in pheomelanin)
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3 types of primary cutaneous amyloidosis?
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Macular-upper back
lichenoid-M/C, extensor surfaces nodular |
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Other names for pigmentary demarcation lines?
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Futcher's lines
Ito's lines Voight's lines |
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Inheritance and gene defect in Peutz-Jueghers?
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AD, STK11
hamartomatous polyps |
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Leopard syndrome presentation? Gene? Allelic to what?
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Lentiges, EKG, Ocular hypertelorism, Pulm stenosis, Abnl genitalia, Ret growt, Deafness.
PTPN11 gene allelic to Noonan's |
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Carney's syndrome presentation? Other names? Gene?
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NAME or LAMB syndrome
Lentigines, Atrial myxomas, mucocutaneous myxomas, blue nevi -psammomatous melanotic schwannoma's on path are pathognomonic. PRKAR1A gene |
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Jewelry thiefs have nice hair is referring to what?
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Absent or hypoplastic drematoglyphs in Naegeli-Franceschetti-Jadosson syndrome
-K14 mutation -no alopecia |
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Dyskeratosis Congenita (aka Zinsser-Engman-Cole Syndrome) has a defect in? inheritance? presentation?
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DKC1 gene, XLR
encodes dyskerin that effects telomerase hTR and hETR -no chromosomal breakage with mitomycin C challenge -leukoplakia, nail dystrophy, reticulate dyspigmentation |
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Similar to dyskeratosis congenita, but with radial bone defects?
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Fanconi's anemia
AR, rare XLR -more generalized diffuse hyperpigmentation than Dyskeratosis congenita |
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Dowling Degos Disease?
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REticulate hyperpigmentation of flexures, AD dominant, symptoms in 20s-30s.
-K5 LOF mutation (DEGOS has 5 letters) |
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Acantholytic form of Dowling Degos?
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Galli-Galli
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Dyschromatosis Symmetrica Hereditaria?
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DSRAD gene--->adenosine deaminase
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Dyschromia Kitumura?
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pits on palms and soles.
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Atypical mole syndrome families often have a defect in CDKN2A. This is on what chromosome?
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CDKN2A on chr. 9
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Which is associated with congenital megacolon? Piebaldism or Waardenburg's?
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Wardenburg is associated with congenital megacolon.
Waardenburg's is a failure of melanocytes to migrate |
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MITF is in Waardenburg type 2, it normally activates that gene that encodes what enzyme?
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tyrosinase
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Pax-3 and Sox-10 bind to what region of MITF?
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PAX3 and SOX10 bind to the promoter region of MITF and activate it.
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Tyrosinase activity is greatest in what stage melanosome?
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Stage II
stage I melanosomes express gp100, which is recognized by HMB-45 amt of melanin is greatest in stage III and IV melanosomes |
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Rate limiting step in melanin synthesis?
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Dopa --->Dopaquinone via Tyrosinase
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PAX3 and SOX10 bind to what?
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Promoter region of MITF
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Type of melasma accentuated by woods lamp?
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Epidermal melasma is accentuated on wood's lamp exam.
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