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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

Study These Flashcards
A 
Folliculin gene
FAT hog
Fibrofolliculomas
Acrochordons
Trichodiscomas
24
Chronic granulomatous Disease gene?
cytochrome B | XLR
25
What is a common cause of airborne contact derm?
sesquiterpine lactone
26
most common allergen in shoe dermatitis?
MBT
27
familial amyloidosis gene?
transthyretin
28
Berardinelli-Seip Congenital LIpodystrophy
BSCL2 gene mutation (nuc laminins) generalized lipodystrophy, hld, acanthosis, insulin res DM, hepatomegaly cadaveric facies w/ muscular body
29
Familial partial lipodystrophy
LMNA gene mutation | symmetric lipoatrophy of trunk/limbs, tuberoeruptive xanthomas, AN, HTG
30
Buschke-Ollendorf syndrome
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
Lipoid proteinoisis
``` 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
Beare Stevenson Cutis Gyrata sx
FGFR2 gene mutation (fibroblast growth receptor 2) | cutis gyrate, AN, anogenital abl, craniosynostosis, furrowed palms/soles
33
Menkes disease
ATP7a, copper transporter pili torti, trichorrhexis nodosa CNS deterioration tortuous arteries
34
Monilethrix
hhb1, hhb6 or keratin 81,86
35
Trichorhinophalangeal syndrome (TRP)
pear shaped nose cone shaped epiphyses AR/AD--> TRPS1 gene
36
uncombable hair
pili trianguli et canaliculi (triangular x section w/ longitudinal groove) spun glass hair, possible improvement w biotin
37
tricho-dento-osseus syndrome
DLX3, curly kinky hair at birth that may straighten after puberty, dental pits, inc bone density
38
Bjornstad syndrome
pili torti, deafness, normal intell/lifespan
39
Papular atrichia
hairless gene mutation, human analog of mouse mutation
40
Nail-patella syndrome
LMX1B mutation triangular lunulae, absent/hypoplastic patella, post iliac horns, thick scapulae, glomerulonephritis, lester iris (hyperpigmented papillary margin of iris), radial head subluxation
42
pachy congenita
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
Icthyosis vulgaris
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
X linked icthyosis
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
lamellar icthyosis
transglutaminase 1 or ABCA12 COLLODION baby-->evolves to thick dark scale w/ PROMINENT flexural involvement heat intolerance, PPK< hypernatriema
46
Congenital icthyosiform erythromderma | nonbullous CIE
transglutaminase 1 or ALOXE3, ALOX12B COLLODION baby --> flexures involved very similar to lamellar but milder
47
Icthyosis bullosa of Siemens
keratin 2e defect @ birth w/ mild erythroderma and mild blistering evolves into hyperkeartotic brown plaques over joints FLEXURS, dorsal hands, spares palms/sles
48
Epidermolytic hyperkeratosis or Bullous CIE
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
Harlequin
ABCA12 | usually die early
50
Netherton syndrome
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
Sjogren-Larsson syndrome
FALDH-fatty aldehyde dehydrogenase @ birth-->erythema, generalized icthyosis, pruritus(persistent), PPK Spastic ditetraplegia, perifoveal glistening white dogs in ocular fundus
52
CHILD syndrome
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
Conradi-Hunermann-Happle Syndrome | XLD chondrodysplasia punctatata
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
Chondrodysplasia punctata, not XLD
arylsulfatase E defect, XR or AD
55
Rhizomelic chondrodysplasia punctata
AR, PEX7 gene defect diffuse fine scale, erythema, alopecia punctate chondrodysplasia, cleft vertebrae, resp compromise
56
KID syndrome
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
Refsum Disease
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
Darier's disease
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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