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random 2 Flashcards

0
Q

sturge-weber

A 
sporadic
facial pws usually v1 a/w upside ocular and leptomening abl
glaucoma
seizures
tram track ca
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1
Q

Russell silver syndrome

A

triangular facies
hemihyoeetrophy
clinidactyly of pinky
syndactyly of 2/3rd toes

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2
Q

klippel trenaunay syndrome

A 
sporadic vasc malformation of limb aw 
bone and soft tissue hypertrophy 
gigantism of limb
urinary or gi vasc lesions
can have intermittent claudication, lymph edema , ulcers, recurrent PE

if multiple arteriovenous fistulas associated with skeletal and soft tissue hypertrophy –>called parkes weber

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3
Q

Proteus syndrome

A 
pten sporadic mutation 
"proteus is GONNA Change!"
gigantism
ovarian cystadenomas
nevi,ct
nevi, epidermal
auditory- hyperoatoses of canal
cap malformation( or hemangioma)

lipomas,

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4
Q

Cobb syndrome

A

capillary malformation aw spinal avm

can have neuro deficits

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5
Q

beckwith Weidmann

A 
kip2
linear earlobe crease
circular depressions on helix
Wilms tumor
central midline face vasc malformation 
hepatoblastoma 
hemihypertrophy of tissue /viscera
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6
Q

von hippel lindau

A

bad disease most people die by age 40

bilateral retinal and cerebellar hemangioblastoma

pws of face
inc r/o renal and panc ca
pheo

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7
Q

Rubinstein taybi

A 
creb mutation
broad thumbs 
vasc malformation 
beaked nose 
mr
cong heart
cryptorchidism
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8
Q

mafucci

A

PTH/PTHrP
vascular disorder with enchondromas and increased risk of chondrosarcoma

MafuCCi-Cartilage tumors, chondrosarcoma

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9
Q

blue rubber bleb

A

TIE2
lesions are painful esp at night
lesional hyperhidrosis
gib

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10
Q

Cornelia de Lange

A

vasc syndrome
NIPBL gene
cutis marmorata
unibrow, long lashes, low pitched cry, mr, clinidactyly

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11
Q

hereditary lymph edema

A

FLT4 gene encodes VEGFreceptor3

ASCITES and cystic hygromas

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12
Q

lymphedema-distichiasis sx

A

FOXC2

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13
Q

noonan sx

A

PTPN11
Like leopard sx
look like turners pts but can be boys or girls
hylertelorism, webbed neck, undesc testes,kp atrophicans, low post hairline, pulm stenosis, lymphedema, keloids

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14
Q

merge lymphedema

A

late onset around pubert

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15
Q

pxe

A

abcc6
plucked chicken
angioid streaks - rupture in bruchs membrane
gastric artery hemorrhage

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16
Q

cutis laxa

A

fibulin 5
pulm emphysema
newborn w hypoplastic lungs

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17
Q

congenital contractural arachnodactyly

A

fibrillin 2
crumpled ears long limbs
arachnodactyly

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18
Q

Costello syndrome

A

HRAS GENE MUTATION (proto-oncogene)
aka faciocutaneoskeletal syndrome
delayed development, mr, macrocephaly, low set ears, wide nostrils, thick lips
flexible joints
heart abl
most common benign tumors–>papillomas around mouth/nose/perianal
most common malignant tumor–>rhabdomyosarcoma

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19
Q

What medication can help w progeria and Costello syndrome (HRAS)?

A

farnesyl transferase inhibitors

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20
Q

vemurafenib is a?

can cause?

A

serine/threonine inhibitor

can cause KAs

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21
Q

H syndrome

A 
SCL29A3
slcerodermoid skin changes
Hypertrichosis
Hepatosplenomegaly
Heart abl
Hypogonadism
Hyperglycemia (DM)
Hallux vargus deform
Dec Height
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22
Q

which condition is a/w exuberant reactions to bug bites?

A

CLL

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23
Q

Birt Hogg Dube

A 
Folliculin gene
FAT hog
Fibrofolliculomas
Acrochordons
Trichodiscomas
24
Q

Chronic granulomatous Disease gene?

A

cytochrome B

XLR

25
Q

What is a common cause of airborne contact derm?

A

sesquiterpine lactone

26
Q

most common allergen in shoe dermatitis?

A

MBT

27
Q

familial amyloidosis gene?

A

transthyretin

28
Q

Berardinelli-Seip Congenital LIpodystrophy

A

BSCL2 gene mutation (nuc laminins)
generalized lipodystrophy, hld, acanthosis, insulin res DM, hepatomegaly
cadaveric facies w/ muscular body

29
Q

Familial partial lipodystrophy

A

LMNA gene mutation

symmetric lipoatrophy of trunk/limbs, tuberoeruptive xanthomas, AN, HTG

30
Q

Buschke-Ollendorf syndrome

A

LEMD3
elastomas- yellow papules on trunk, buttocks, arms
osteopoikilosis (ectopic calcifications in bone)-not prone to fracture
BUSHke- think of small bush-like opaque areas w/in bone (osteopoikilosis)

31
Q

Lipoid proteinoisis

A 
ECM1 mutation
string of pearls over eyelids
hoarse voice
bean shaped temporal/hippocampal calcification w/ occ seizures
large wooden tongue
yellow waxy papule son face/OP
32
Q

Beare Stevenson Cutis Gyrata sx

A

FGFR2 gene mutation (fibroblast growth receptor 2)

cutis gyrate, AN, anogenital abl, craniosynostosis, furrowed palms/soles

33
Q

Menkes disease

A

ATP7a, copper transporter
pili torti, trichorrhexis nodosa
CNS deterioration
tortuous arteries

34
Q

Monilethrix

A

hhb1, hhb6 or keratin 81,86

35
Q

Trichorhinophalangeal syndrome (TRP)

A

pear shaped nose
cone shaped epiphyses
AR/AD–> TRPS1 gene

36
Q

uncombable hair

A

pili trianguli et canaliculi (triangular x section w/ longitudinal groove)
spun glass hair, possible improvement w biotin

37
Q

tricho-dento-osseus syndrome

A

DLX3, curly kinky hair at birth that may straighten after puberty, dental pits, inc bone density

38
Q

Bjornstad syndrome

A

pili torti, deafness, normal intell/lifespan

39
Q

Papular atrichia

A

hairless gene mutation, human analog of mouse mutation

40
Q

Nail-patella syndrome

A

LMX1B mutation
triangular lunulae, absent/hypoplastic patella, post iliac horns, thick scapulae, glomerulonephritis, lester iris (hyperpigmented papillary margin of iris), radial head subluxation

42
Q

pachy congenita

A

Type 1= Jodassohn-Lewandowsky–>K6a/16
dystrophic nails, PPK, oral leukokeratosis (benign)

Type 2=Jackson-Lawler–>K6b/17
same as type 1 w/ dystrophic nails and PPK but w/ epidermal cysts, steatocystomas and natal teeth.

43
Q

Icthyosis vulgaris

A

dec or absent profilaggrin
fine white scale on extensor surface, flexures spared, hyperlinear palms, a/w AD
histo: absent or attenduated granular layer, hyperkartosis

44
Q

X linked icthyosis

A

steroid sulfatase
infants w/ mild erythroderma, LARGE transulcent scales
BROWN DIRTY SCALE on extremities, neck, trunk
spares palms/soles/face
mom has low/absent estrogen in urine/amn fluid
labor doesn’t progress
inc r/o testicular cancer
comma shaped corneal opacities!
tests: electrophoresis

45
Q

lamellar icthyosis

A

transglutaminase 1 or ABCA12
COLLODION baby–>evolves to thick dark scale w/ PROMINENT flexural involvement
heat intolerance, PPK< hypernatriema

46
Q

Congenital icthyosiform erythromderma

nonbullous CIE

A

transglutaminase 1 or ALOXE3, ALOX12B
COLLODION baby –> flexures involved
very similar to lamellar but milder

47
Q

Icthyosis bullosa of Siemens

A

keratin 2e defect
@ birth w/ mild erythroderma and mild blistering
evolves into hyperkeartotic brown plaques over joints FLEXURS, dorsal hands, spares palms/sles

48
Q

Epidermolytic hyperkeratosis or Bullous CIE

A

K1/10
initial erythroderma at birth, bullae w/ denuded skin–>Evolves into verrucous plaques, flexural inv, ppk

Histo: cytolysis of suprabasal/granular layers,
FTT, hypernatremia, dehydration, recurrent infections

49
Q

Harlequin

A

ABCA12

usually die early

50
Q

Netherton syndrome

A

SPINK5, serine protease inhibitor LEKT1
at birth: +/- collodon membrane, generalized erythroderma and scaling
triad of: congenital icthyosis (icthyosis linearis circumflexa_ or CIE, trhichorrhexis invaginata, atopy

**Icthyosis linearis circumflexa–>serpiginous or circinate erythematous plaques w double edged scale

51
Q

Sjogren-Larsson syndrome

A

FALDH-fatty aldehyde dehydrogenase
@ birth–>erythema, generalized icthyosis, pruritus(persistent), PPK
Spastic ditetraplegia, perifoveal glistening white dogs in ocular fundus

52
Q

CHILD syndrome

A

Congenital Hemidysplasia w/ Icthyosiform erythroderma and Limb Defects
NSDHL gene, XLD (NADPH steroid dehydrogenase-ike protein
-@ birth w unilat icthyosif erythroderma
ipsilat organ aplasia/agenesis, alopecia, skeletal defects
*stippled epiphyses (resolves)

53
Q

Conradi-Hunermann-Happle Syndrome

XLD chondrodysplasia punctatata

A

EBP gene
impaired cholesterol synthesis
birth–>icthyosiform erythroderma–>hyperkeratosis replaced by follicular atrophoderma and ice-pick like skcars

*stippled epiphyses
cataracts, deafness, scarring alopecia, frontal bossing/flat nasal bridge
CONradi–>CON who becomes crippled w stippled epiphyses

54
Q

Chondrodysplasia punctata, not XLD

A

arylsulfatase E defect, XR or AD

55
Q

Rhizomelic chondrodysplasia punctata

A

AR, PEX7 gene defect
diffuse fine scale, erythema,
alopecia
punctate chondrodysplasia, cleft vertebrae, resp compromise

56
Q

KID syndrome

A

Keratitis, Icthyosis, Deafness
GJB2 or connexin 26
at or near birth w symmetric erythematous hyperkeratotic plaques on knees, elbows, face, PPK w/ grainy/stippled appearance
sensineural deafness, vascularizing keratiits w secndary blindess
inc r/o infection, inc r/p SCC

Can start having KIDS at 26!

57
Q

Refsum Disease

A

PAHX(PHYH) gene
peroxisomal phytanolyl CoA hydroxylase OR PEX7 gene
Excessive accumulation of phytanic acid

mild icthyosis in childhood, cerebellar ataxia, peripheral neuropathy, ‘salt and pepper’ retinitis pigmentosa, deafness

Treatment: restrict phytanic acid in diet

Refsum- the REFS on the Titanic (phytanic) made a pact (PAHX/ PEX) to get acid and salt and pepper (retinitis)for their food (dietary restirction). They tok the acid and got ataxic, deaf and neuropathic (peripheral).

58
Q

Darier’s disease

A

ATP2a2 encodes serca2
hyperkeratotic papules in seborrheic distribution
Acrokeratosis verruciformis of Hopf–>verrucous papules on dorsal hands
palmar keratosis/pits

nails:Red/white alternating bands, v shaped nicks at distal plate, subungual hyperkeratosis
oral cobblestoning, also inAG mucosa

genoderms (3 decks)

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