random 2 Flashcards
sturge-weber
sporadic facial pws usually v1 a/w upside ocular and leptomening abl glaucoma seizures tram track ca
Russell silver syndrome
triangular facies
hemihyoeetrophy
clinidactyly of pinky
syndactyly of 2/3rd toes
klippel trenaunay syndrome
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
Proteus syndrome
pten sporadic mutation "proteus is GONNA Change!" gigantism ovarian cystadenomas nevi,ct nevi, epidermal auditory- hyperoatoses of canal cap malformation( or hemangioma)
lipomas,
Cobb syndrome
capillary malformation aw spinal avm
can have neuro deficits
beckwith Weidmann
kip2 linear earlobe crease circular depressions on helix Wilms tumor central midline face vasc malformation hepatoblastoma hemihypertrophy of tissue /viscera
von hippel lindau
bad disease most people die by age 40
bilateral retinal and cerebellar hemangioblastoma
pws of face
inc r/o renal and panc ca
pheo
Rubinstein taybi
creb mutation broad thumbs vasc malformation beaked nose mr cong heart cryptorchidism
mafucci
PTH/PTHrP
vascular disorder with enchondromas and increased risk of chondrosarcoma
MafuCCi-Cartilage tumors, chondrosarcoma
blue rubber bleb
TIE2
lesions are painful esp at night
lesional hyperhidrosis
gib
Cornelia de Lange
vasc syndrome
NIPBL gene
cutis marmorata
unibrow, long lashes, low pitched cry, mr, clinidactyly
hereditary lymph edema
FLT4 gene encodes VEGFreceptor3
ASCITES and cystic hygromas
lymphedema-distichiasis sx
FOXC2
noonan sx
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
merge lymphedema
late onset around pubert
pxe
abcc6
plucked chicken
angioid streaks - rupture in bruchs membrane
gastric artery hemorrhage
cutis laxa
fibulin 5
pulm emphysema
newborn w hypoplastic lungs
congenital contractural arachnodactyly
fibrillin 2
crumpled ears long limbs
arachnodactyly
Costello syndrome
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
What medication can help w progeria and Costello syndrome (HRAS)?
farnesyl transferase inhibitors
vemurafenib is a?
can cause?
serine/threonine inhibitor
can cause KAs
H syndrome
SCL29A3 slcerodermoid skin changes Hypertrichosis Hepatosplenomegaly Heart abl Hypogonadism Hyperglycemia (DM) Hallux vargus deform Dec Height
which condition is a/w exuberant reactions to bug bites?
CLL
Birt Hogg Dube
Folliculin gene FAT hog Fibrofolliculomas Acrochordons Trichodiscomas
Chronic granulomatous Disease gene?
cytochrome B
XLR
What is a common cause of airborne contact derm?
sesquiterpine lactone
most common allergen in shoe dermatitis?
MBT
familial amyloidosis gene?
transthyretin
Berardinelli-Seip Congenital LIpodystrophy
BSCL2 gene mutation (nuc laminins)
generalized lipodystrophy, hld, acanthosis, insulin res DM, hepatomegaly
cadaveric facies w/ muscular body
Familial partial lipodystrophy
LMNA gene mutation
symmetric lipoatrophy of trunk/limbs, tuberoeruptive xanthomas, AN, HTG
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)
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
Beare Stevenson Cutis Gyrata sx
FGFR2 gene mutation (fibroblast growth receptor 2)
cutis gyrate, AN, anogenital abl, craniosynostosis, furrowed palms/soles
Menkes disease
ATP7a, copper transporter
pili torti, trichorrhexis nodosa
CNS deterioration
tortuous arteries
Monilethrix
hhb1, hhb6 or keratin 81,86
Trichorhinophalangeal syndrome (TRP)
pear shaped nose
cone shaped epiphyses
AR/AD–> TRPS1 gene
uncombable hair
pili trianguli et canaliculi (triangular x section w/ longitudinal groove)
spun glass hair, possible improvement w biotin
tricho-dento-osseus syndrome
DLX3, curly kinky hair at birth that may straighten after puberty, dental pits, inc bone density
Bjornstad syndrome
pili torti, deafness, normal intell/lifespan
Papular atrichia
hairless gene mutation, human analog of mouse mutation
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
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.
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
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
lamellar icthyosis
transglutaminase 1 or ABCA12
COLLODION baby–>evolves to thick dark scale w/ PROMINENT flexural involvement
heat intolerance, PPK< hypernatriema
Congenital icthyosiform erythromderma
nonbullous CIE
transglutaminase 1 or ALOXE3, ALOX12B
COLLODION baby –> flexures involved
very similar to lamellar but milder
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
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
Harlequin
ABCA12
usually die early
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
Sjogren-Larsson syndrome
FALDH-fatty aldehyde dehydrogenase
@ birth–>erythema, generalized icthyosis, pruritus(persistent), PPK
Spastic ditetraplegia, perifoveal glistening white dogs in ocular fundus
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)
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
Chondrodysplasia punctata, not XLD
arylsulfatase E defect, XR or AD
Rhizomelic chondrodysplasia punctata
AR, PEX7 gene defect
diffuse fine scale, erythema,
alopecia
punctate chondrodysplasia, cleft vertebrae, resp compromise
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!
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).
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
