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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
Q

Classical complement pathway

A

proteins indicated By C followed by #

C1, C2, C3, C4

IgG4 does NOT activate classical pathway

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26
Q

Alternative complement pathway

A

Factor B, D, H, C3 and properdin

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27
Q

hbeta d-2 and LL37 are down in____, up in ______?

A

down in AD

up in psoriasis

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28
Q

Mast cell preformed mediators

A

histamine, heparin, trypatase, chymase, carboxypeptidase A, cathepsin G

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29
Q

Mast cell newly-formed mediators

A

prostaglandin D2 (PGD2) leukotrienes (LTC4, LTD4, LTE4, platelet activating factor (PAF)

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30
Q

Immunoglobulins

A

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

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31
Q

psoriatic arthritis HLA?

A

B27

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32
Q

Behchet’s disease HLA?

A

B51

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33
Q

psoriasis most definitive HLA?

A

Cw-6

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34
Q

LP HLA?

A

DR1

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35
Q

LP pemphigus vulgaris?

36
Q

chronic urticaria

37
Q

DH HLA?

A

DQ2 (DQw2)

38
Q

Goltz Syndrome

(Focal Dermal Hypoplasia)

A

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
Q

Beckwith-Wiedemann Syndrome

A

KIP2 gene

circular depression over helix rim, linear earlobe creases, midline facial vasc malformation, macroglossia, visceromegaly, hemihypertrophy, wilms tumor and hepatoblastoma

40
Q

Basal cell nevus syndrome

(Gorlin’s syndrome)

A

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
Q

NF Type 1 Criteria

A

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
Q

Carney syndrome

(tumor suppression)

A

PRKAR1A gene

NAME:nevi, atrial myxoma, myxoid tumor, ephilides

LAMB: lentigines, atrial myx, mucocut myxomas, blue nevi

*psammomatous melanotic schwannomas

43
Q

Muir Torre syndrome

Tumor suppression syndrome

A

MLH1, MSH2

DNA mismatch repair genes

seb neoplasms, KAs

inc r/o colon adenoca

*subtype of HNPCC*

More and more sebacous neoplasms!

44
Q

Tuberous sclerosis

Tumor suppression syndrome

A

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
Q

Cowden Syndrome (Multiple hamartoma sx)

Tumor suppression syndrome

A

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
Q

PTEN syndromes

A

1) Cowden’s
2) Banayan-Zonana
3) Lhermite-Duclos syndrome

47
Q

MEN 1

A

men1 gene mutation

aka Wermer syndrome

Panc, para, pit

macular and lichen amyloid, angiofibromas, collagenomas, lipomas, CALMs

48
Q

MEN 2a

A

Sipple syndrome

RET mutation

lichen or macular amyloid , hemangiomas, genital lentigines, hamartomas, lipomas

parathyroid, phaeochromo, medullary thyroid

2a=amyloid, sipple=rippled

49
Q

MEN 2b

A

ret mutation

aka multiple mucosal neuroma sx

medullary, phaeochromo, mucosal neuromas, marfanoid habitus

2b=blueberry lips 2/2 mucosal neuromas

50
Q

Bannayan-Riley-Ruvacalba syndrome

A

AD

PTEN

genital lentiines, lipomas, hamartomas, hemangiomas, MR, macrocephaly

brown banana

51
Q

LEOPARD syndrome (multiple lentigines syndrome)

(tumor suppression syndrome)

A

PTPN11

AD

Lentiines

ECG abl

Ocular hypertelorism

Pulmonic stenosis

Abl genitalia

Retarded growth

Deafness

52
Q

Peutz Jeghers Syndrome

(tumor suppression syndrome)

A

STK11/LKB1 gene encodes serine threonine kinase

inc r/o GI adenoca

53
Q

Gardner syndrome

(tumor suppression syndrome)

A

APC gene

epidermoid cysts, osteomas, supernumerary teeth, odontomas, fibromas, CHRPE

GI adenoCA (inevitable, need colectomy)

birds chrp in the garden

54
Q

Birt-Hogg-Dube Syndrome

(tumor suppression syndrome)

A

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
Q

Dysplastic Nevus Syndrome

(tumor suppression syndrome)

A

CDKN2A

pancreatic CA, astrocytomas, melanoma

56
Q

Clouston syndrome

A

connexin 30

57
Q

KID + Vohwinkel

A

Connexin 26

58
Q

erythrokeratoderma variabilis

A

connexin 31, 30.3

59
Q

duhrigs dz=?

gene?

A

dermatitis herpetiformis

transglutaminase 3

60
Q

mold a/w paronychia + distal onycholysis?

A

scytalidium dimidiatum

61
Q

most specific gene in sjogrens?

A

anti-fodrin

62
Q

what activates NK cells?

63
Q

what downregulates TH2 response?

what downregulates TH1 reponse?

A

IFN downreg th2

IL 10 down reg th1 resp

64
Q

PTEN syndromes (3)

A

Cowden’s

Proteus

BRRS

65
Q

Richner Hanhart Syndrome

A

Painful PPK + pseudoherpetic keratitis

needs diet low in tyrosine/phenylalanine

66
Q

Stewart-Treves syndrome

A

angiosarcoma a/w chronic lymphedema

>20 yrs

67
Q

strep iniae causes?

A

hand cellulitis in fish handlers (tilapia)

68
Q

De Sanctis Cachione Syndrome

A

XP variant w/ MR, dwarfism, gonadal hypoplasia

69
Q

Werner Syndrome

(Adult progeria)

A
  • 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
Q

Progeria

A

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
Q

Familial chronic mucocutaneous candidiasis

A

recurrent, progressive candidal infections (skin/nails/mucosa)

crusted plaques, nail dystrophy and thrush

72
Q

Hyper-IgE syndrome (Job syndrome)

A

STAT3 gene

AR

Inc IgE levels, peripheral eosinophilia, pna, retained primary teeth, eczematous derm, lung abscesses, pneumatocele, otitis media, osteopenia w recurrent fractures

73
Q

Wiskott-Aldrich syndrome

A

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
Q

SCID

A

JAK3 or adenosine deaminase (ADA)

XLR

deficiency of gamma chain of IL2

def or absence of circulating lymphs

75
Q

APECED

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

A

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
Q

OCA Type 1a

A

tyrosinas deficiency

no melanin, white hair, amelanotic nevi, inc skin ca, nystagmus, strabismus, dec visual acutity

77
Q

OCA Tybe 1b

A

aka yellow mutant

dec tyrosinase activity

little or no pigment at birth, can get some pigment over time, milder eye sx

78
Q

OCA type 2

(tyrosinase positive)

A

P gene (dec eumelanin production)

MOST common, OCA, broad phenotype, pigmented nevi dev over time, light brown skin/hair

79
Q

OCA Type 3

(Rufous)

A

TYRP1 (tyrosinase related protein 1)

light brown hair, skin, blue or brown irides, nystagmus, dec visual acuity

80
Q

Chediak Higashi syndrome

A

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
Q

Hermansky-Pudlack Syndrome

A

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
Q

Griscelli syndrome

A

myosin 5A, Rab27a

pigment dilution, silver hair, pyogenic infxns, pnacytopenia, neuro inv, immune def, UNEVEN clumps of melanin in medulla-unlike Chediak HIgashi*

83
Q

Hypomelanosis of Ito

A

whorled/linear/patchy hypopigmentation

84
Q

IP

A

NEMO mutation (NFkB)

XLD

  1. Vesicular
  2. verrucous
  3. hyperpigmented
  4. hypopigmented
  • absent/peg shaped teeth, alopecia, etc
85
Q

Piebaldism

A

c-kit

defective melanocyte migration

white forlock

see kit get hit in the face w a pie and get piebaldism!

86
Q

Waardenberg Syndrome

A
  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

genoderms (3 decks)

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