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1
Q

juvenile hyaline fibromatosis

A

capillary morphogenesis protein 2

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2
Q

JXG

A

0.5% w ocular involvement a/w: NF1 and juvenile myelomonocytic leukemia (JMML)

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3
Q

Lipomas- a/w

A

bannayan-riley-ruvacalba syndrome gardner syndrome men-1

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4
Q
A

angioma serpiginosum

small, red punctate macules in serpiginous pattern, esp over extremity

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5
Q

x linked recessive diseases

A

CHAD’S Kinky WIFE, CHaNdra

Chronic Granulomatous Disease, Hunter disease, Anhidrotic hypohidrotic ectodermal dysplasia, Dyskeratosis Congenita, SCID, Kinky hair disease, Wiskott aldrich syndrome, Icthyosis, x linked, Fabry dz, Ehlers-danlos (Type V and IX), Chondrodysplasia Punctata NOT Conradi-Hunermann type, Hypohidrotic ED w immunodef, Agammaglobulinemia Bruton, LEsch-Nyhan syndrome

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6
Q

x linked dominant diseases

A

BIG ChOMP

Bazex syndrome, IP, Goltz, CHILD, Oro-Facial-Digital syndrome, MIDAS (micrognathia, dermal aplasia, sclerocornea), Chondrodysplasia Punctata conradi hunermann type

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7
Q

Xeroderma pigmentosum (XP)

A

Nucleotide excision repair pathway

*neuro abl, deafness

XP variant -DNA polymerase- no neuro abl

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8
Q

Cockayne syndrome

A

ERCC6, 8

CS-A and CS-B

AR

unable to repair cyclobutane pyrimidine dimer products after xrt

Cachectic dwarfism, mickey mouse ears, salt and pepper retinitis pigmentosa, dentac caries, basal ganglia calcification, photosensitivity, cataracts

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9
Q

Trichothiodystrophy (TTP)

A

sulfur deficiency in hair- tiger tail deformity, PIBIDS-> photosens, icthyosis, brittle hair, intellectual impairement, decreased fertility, short stature

TTP=2 Ts= ERCC Two, Three

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10
Q

Bloom Syndrome

A

RecQL2 or 3

DNA helicase family

mutation = inc rspont sister chromatid exchanges, breakage and rearrangements

photodistributed erythema/telangectasias over cheeks

short stature, normal intelligente

IMMUNE DEFICIENCY–>respiratory & GI infections, dec fertility, dec IgM, IgA, high pitched voice

BLM–> Butterfly rash, Leukemia/Lymphoma, dec IgM

*INC R/O CANCER->LEUKEMIA, LYMPHOMA,GI ADENO

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11
Q

Rothmund Thompson Syndrome

(Pokiloderma congenitale)

A

ReQL4 (DNA helicase)

photodistributed erythema, vesicles on face in first few mo of life–>evolves to poikiloderma, hypoplastic thumbs, inc r/o osteosarcoma

Rothmund Thomposon–>Reduced Thumbs

ROTH=4 letters, RecQL4

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12
Q

Dyskeratosis Congenita

A

XLR and AD

DKC1 gene–>encodes dyskerin, interacts w/ telomerase, inc sister chromatid exchanges, poikiloderma, premalignant leukoplakia, thrombocytopenia, pancytopenia, inc r/o cancer (mucosal SCC, hodgkins lymphoma, AML)

DYSkeRaTOSis- DYStrophy, mR, Thrombocytopenia, Oral premaligant leukoplakia, Sun avoidance

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13
Q

Ataxia telangectasia syndrome

A

ATM gene mutation

sensitive to ionizing radiation

first syndrome- ataxia

defects in immunity

inc r/o breastCA

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14
Q

Fanconi syndrome

A

inc chromosomal breakage

pancytopenia

hypoplasia of radius and thumb

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15
Q

TH1 cytokines

A

IL-2, IL-12, IFN-y, TNFa

a/w allergic contact derm, tuberculoid leprosy, cutaneous leish, psoriais (latter th17)

cell mediated immunity

*TH2 downregulates INFy*

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16
Q

TH2 cytokines

A

humoral immunity (not cell- mediated)

IL-4, IL5, IL6, IL10

AD, lepromatous leprosy, disseminated leish, sezary syndrome, parasitic infections

IL10 downregulates Th1 response

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17
Q

What two signals do T cells need to activate?

A

CD28/B7 binding

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18
Q

IL1

A

proinflamatory, steroids downregulate IL1 production

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19
Q

IL4

A

part of TH2 response.

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20
Q

IL 8

A

neutrophil chemotaxis

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21
Q

IL10

A

ANTI-inflammatory

downregulates TH1 response

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22
Q

IL12

A

increases Th1 response

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23
Q

INFy

A

inc TH1 response

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24
Q

TGF-beta

A

ANTI-inflammatory

aberrant TGF beta expression = fibrosis in systemic sclerosis

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25
Classical complement pathway
proteins indicated By C followed by # C1, C2, C3, C4 IgG4 does NOT activate classical pathway
26
Alternative complement pathway
Factor B, D, H, C3 and properdin
27
hbeta d-2 and LL37 are down in\_\_\_\_, up in \_\_\_\_\_\_?
down in AD up in psoriasis
28
Mast cell preformed mediators
histamine, heparin, trypatase, chymase, carboxypeptidase A, cathepsin G
29
Mast cell newly-formed mediators
prostaglandin D2 (PGD2) leukotrienes (LTC4, LTD4, LTE4, platelet activating factor (PAF)
30
Immunoglobulins
IgA-mucoosal, activates alternative pathway IgG- opsonization/fixing complement (IgG1, IgG3), cross placenta IgM-pentamer, primary immune response, most efficient at activating complement cascade, NOT a/w opsonization
31
psoriatic arthritis HLA?
B27
32
Behchet's disease HLA?
B51
33
psoriasis most definitive HLA?
Cw-6
34
LP HLA?
DR1
35
LP pemphigus vulgaris?
HLA DR4
36
chronic urticaria
HLA dR4
37
DH HLA?
DQ2 (DQw2)
38
Goltz Syndrome | (Focal Dermal Hypoplasia)
XLD (big chomp) osteopathia striata lobster claw deformity of hands \*think of a lobster using its claw along the sand causing linear striations (osteopathia striata)
39
Beckwith-Wiedemann Syndrome
KIP2 gene circular depression over helix rim, linear earlobe creases, midline facial vasc malformation, macroglossia, visceromegaly, hemihypertrophy, wilms tumor and hepatoblastoma
40
Basal cell nevus syndrome | (Gorlin's syndrome)
**PTCH** gene, inhibits hedgehog singnaling normall **PTCH inhibits smoothened**...when inactivated, smoothened is constitutively activated and activates Gli Multiple BCCs, palmar/plantar pits, odontogenic keratocysts of jaw, frontal bossing, hypertelorism, cataracts, glaucoma, bifid ribs, ca of falx cerebrum, ovarian fibromas, medulloblastoma, meningioma, no corpus callosum
41
NF Type 1 Criteria
2 of 6: 1) 6 or more CALMs *(\>0.5cm prepuberty, \>1.5cm postpuberty),* 2 or more neurofibromas, 1 plexiform nf 2) axillary/inguinal freckling 3) optic glioma 4) lisch nodules 5) sphenoid wing dysp/thinning of long bone 6) 1st deg rel w/ NF
42
Carney syndrome | (tumor suppression)
PRKAR1A gene NAME:nevi, atrial myxoma, myxoid tumor, ephilides LAMB: lentigines, atrial myx, mucocut myxomas, blue nevi \*psammomatous melanotic schwannomas
43
Muir Torre syndrome ## Footnote *Tumor suppression syndrome*
MLH1, MSH2 DNA mismatch repair genes seb neoplasms, KAs inc r/o colon adenoca \*subtype of HNPCC\* *More and more sebacous neoplasms!*
44
Tuberous sclerosis ## Footnote *Tumor suppression syndrome*
hamartin, tuberin (TSC1, TSC2) ash leaf macule (1st finding), facial angiofibromas, ct nevi (shagreen patch), fibromas, CALMS, dental pits, renal angiolypomas, retinal hamartomas, seizures, pulm lymphangioleiomyomatosis, tubers, cardiac rhabdomyoma
45
Cowden Syndrome (Multiple hamartoma sx) Tumor suppression syndrome
PTEN mutation, AD tricheliMOOmas, cobblestone appearance of mucosa, acral keratotic papules, breat ca (1/3 of pts), thyroid follicular ca, GI polyps \*Cows pee ten gallons, PTEN\*
46
PTEN syndromes
1) Cowden's 2) Banayan-Zonana 3) Lhermite-Duclos syndrome
47
MEN 1
men1 gene mutation aka Wermer syndrome Panc, para, pit macular and lichen amyloid, angiofibromas, collagenomas, lipomas, CALMs
48
MEN 2a
Sipple syndrome RET mutation lichen or macular amyloid , hemangiomas, genital lentigines, hamartomas, lipomas parathyroid, phaeochromo, medullary thyroid **2a**=**a**myloid, sipple=rippled
49
MEN 2b
ret mutation aka multiple mucosal neuroma sx medullary, phaeochromo, mucosal neuromas, marfanoid habitus **2b**=**b**lueberry lips 2/2 mucosal neuromas
50
Bannayan-Riley-Ruvacalba syndrome
AD PTEN genital lentiines, lipomas, hamartomas, hemangiomas, MR, macrocephaly brown banana
51
LEOPARD syndrome (multiple lentigines syndrome) (tumor suppression syndrome)
PTPN11 AD Lentiines ECG abl Ocular hypertelorism Pulmonic stenosis Abl genitalia Retarded growth Deafness
52
Peutz Jeghers Syndrome | (tumor suppression syndrome)
STK11/LKB1 gene encodes **serine threonine kinase** inc r/o GI adenoca
53
Gardner syndrome | (tumor suppression syndrome)
APC gene epidermoid cysts, osteomas, supernumerary teeth, odontomas, fibromas, CHRPE GI adenoCA (inevitable, need colectomy) birds chrp in the garden
54
Birt-Hogg-Dube Syndrome | (tumor suppression syndrome)
BHD gene, encodes folliculin multiple fibrofolliculomas, trichodiscomas, skin tags a/w renal cell ca, medullary thyroid ca, **spont pneumothorax (multiple pulm cysts)** \*Birt HOGG Dube- hog w/ rough skin bc of fibrofulliculomas and trichodiscomas\*
55
Dysplastic Nevus Syndrome | (tumor suppression syndrome)
CDKN2A pancreatic CA, astrocytomas, melanoma
56
Clouston syndrome
connexin 30
57
KID + Vohwinkel
Connexin 26
58
erythrokeratoderma variabilis
connexin 31, 30.3
59
duhrigs dz=? gene?
dermatitis herpetiformis transglutaminase 3
60
mold a/w paronychia + distal onycholysis?
scytalidium dimidiatum
61
most specific gene in sjogrens?
anti-fodrin
62
what activates NK cells?
IL 2
63
what downregulates TH2 response? what downregulates TH1 reponse?
IFN downreg th2 IL 10 down reg th1 resp
64
PTEN syndromes (3)
Cowden's Proteus BRRS
65
Richner Hanhart Syndrome
Painful PPK + pseudoherpetic keratitis needs diet low in tyrosine/phenylalanine
66
Stewart-Treves syndrome
angiosarcoma a/w chronic lymphedema \>20 yrs
67
strep iniae causes?
hand cellulitis in fish handlers (tilapia)
68
De Sanctis Cachione Syndrome
XP variant w/ MR, dwarfism, gonadal hypoplasia
69
Werner Syndrome (Adult progeria)
* RECQL2, encodes helicase * normal growth until 2nd decade, then short stature/thin limbs, grey hair, central obesity, **beaked nose**, pinched facial expression, high picthced voice, mottled hyperpig., **sclerodermoid** changes, cataracts, DM, _premature atherosclerosis, chronic leg ulcers_ * inc r/o soft tissue sarcomas, osteosarcomas, scc
70
Progeria
Lamin-A mutation (LMNA) median lifespan is 12 y/o, large cranium, prominent scalp veins, beaked nose, micrognathia, plucked bird appearance, sclerodermoid sin, alopecia, high pictched voice, avg intelligence, SEVERE premature atherosclerosis
71
Familial chronic mucocutaneous candidiasis
recurrent, progressive candidal infections (skin/nails/mucosa) crusted plaques, nail dystrophy and thrush
72
Hyper-IgE syndrome (Job syndrome)
STAT3 gene AR Inc IgE levels, peripheral eosinophilia, pna, retained primary teeth, eczematous derm, lung abscesses, pneumatocele, otitis media, osteopenia w recurrent fractures
73
Wiskott-Aldrich syndrome
WASP gene (controls assembly of actin filaments) * TCP, plt dysf, petechiae and echymoses of skin, epistaxis, melena, hematemesis, hematuria * AD * HSM, LAD * r/o lymphoma (non-Hodgkins) * death is from infxn\>hemorrhage\>malignancy * **BM transplant**
74
SCID
JAK3 or adenosine deaminase (ADA) XLR deficiency of gamma chain of IL2 def or absence of circulating lymphs
75
APECED Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
AIRE gene (autoimmune regulator gene) candida, endocrione issues (thyroid, parathyroid DM, hypoadrenocorticism), skin AI d/o like aa, vitiligo, pernicious anemia FTT, chronic diarrhea, multiple infections
76
OCA Type 1a
tyrosinas deficiency no melanin, white hair, amelanotic nevi, inc skin ca, nystagmus, strabismus, dec visual acutity
77
OCA Tybe 1b
aka yellow mutant dec tyrosinase activity little or no pigment at birth, can get some pigment over time, milder eye sx
78
OCA type 2 | (tyrosinase positive)
P gene (dec eumelanin production) MOST common, OCA, broad phenotype, pigmented nevi dev over time, light brown skin/hair
79
OCA Type 3 | (Rufous)
TYRP1 (tyrosinase related protein 1) light brown hair, skin, blue or brown irides, nystagmus, dec visual acuity
80
Chediak Higashi syndrome
**LYST/CHS1** gene mutation lysosomal trafficking regulator GIant intracytoplasmic granultes **albinism w/ immuno deficiency, silvery metallic hair, recurrent infections, neurologic deterioration**, slate gray skin color -accelerated phase- pancytopenia, lymphohistiocytic infiltrate of reticuloendothelial system Tx: stem cell transplant \*\*evently distributed chunks of melanin\*
81
Hermansky-Pudlack Syndrome
HPS gene mutation or AP3B1 OCA, hemorrhagic diathesis, ABSENT DENse boDies in platelet (different from Chediak Higashi, which has giant inclusions), ecchymosis, **pulm fibrosis, granulomatous colitis** **albino bleeding acrobats, fall in net and get pulm fibrosis, granulomatous colitis**
82
Griscelli syndrome
myosin 5A, Rab27a pigment dilution, silver hair, pyogenic infxns, pnacytopenia, neuro inv, immune def, UNEVEN clumps of melanin in medulla-unlike Chediak HIgashi\*
83
Hypomelanosis of Ito
whorled/linear/patchy hypopigmentation
84
IP
NEMO mutation (NFkB) XLD 1. Vesicular 2. verrucous 3. hyperpigmented 4. hypopigmented * absent/peg shaped teeth, alopecia, etc
85
Piebaldism
c-kit defective melanocyte migration white forlock see kit get hit in the face w a pie and get piebaldism!
86
Waardenberg Syndrome
1. Type 1- PAX3- heterochromia iridis, synophrys, dystopia canthorusm\* 2. Type 2-MITF- deafness common 3. Type 3-PAX3-upper limb alb 4. SOX10 or endothelin-hirschsprungs pack your mitts, pack your sox and endothelin! eyes, ears, arms, belly
87

genoderms (3 decks)

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