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57 Cards in this Set

  • Front
  • Back
NF: inheritance pattern
AD
NF: what chromosome is NF1 gene on and what signaling pathway does it involve
17q11
Ras
internal tumors
optic gliomas
malignant peripheral nerve shealth tumors
pheochromocytomas
CNS tumors
juvenile CML
Other tumors that patients with NF may develop
NF: incidence
1/3000
NF: 5 clinical characterizations
cafe-au-lait macules
NF
freckling in axillae and groin
Lisch nodules in iris
bony defects
vestibular schwannomas
NF2
cafe-au-lait macules only
NF6
segmental NF
NF5
Tuberous sclerosis: inheritance
AD
spontaneous mutation rate 75%
Tuberous sclerosis: 4 cutaneous features
hypopigmented macules
facial angiofibromas
collagenomas
periungual fibromas
hamartomas in eye, brain, kidneys, heart and lungs w/ seizures mental deficits
Tuberous sclerosis
TS: genes involved
TSC1 on 9q34--> hamartin
TSC2 on 16p13 --> tuberin
acanthosis with elongated bulbous rete ridges, hypogranulosis, hyper and parakeratosis, dilated BV, lymphocytes
Psoriasis
psoriasis: major systemic manifestation
arthritis of small joints of hands and feet
the development of typical lesions after trauma
koebner phenomenon seen in psoriasis, vitiligo, lichen planus
Which type of psoriasis has systemic complications
erythrodermic psoriasis
fever/hypothermia and tachycardia
hepatosplenomegaly
dehydration
protein loss, peripheral edema
high output cardiac failure, ARDS
erythrodermic psoriasis
3 nail changes in psoriasis
pits
yellow/brown macules
serve onychodystrophy with yellowish keratinous material
erythema nodosum, hilar adenopathy, fever, arthritis
lofgren's
parotid gland enlargement, uveitis, fever, cranial nerve palsy
heerfordts syndrome
sarcoidosis: first clinical sign
cutaneous manifestations: red/brown papules and plaques or erythema nodosum
noncaseating epithelioid granulomas
histiocytes
no lymphocytic inflammation
negative for infection
sarcoidosis
which tx for sarcoidosis should not be given to pt with G6PD deficiency
chloroquine
Tx of sarcoidosis
corticosteroids
chloroquine
methoterxate
infliximab
abrupt onset of papular lesions
target lesions
erythema multiforme minor
prodrome
necrosis of 2+ mucosal sites
target-like cutaneous lesions
lasts 3+ weeks
stevens-johnson syndrome
erythema multiforme minor: causes
HSV
Stevens-Johnson: causes
drugs: NSAIDS, sulfonamides, anticonvulsants, penicllines, tetracyclines, doxy
intraepidermal blisters
acantholysis
retention of basal layer keratinocytes
pemphigus
Pemphigus vulgaris: pathogenesis
IgG autoAb against desmoglein 3 and 1
flat, round, pigmented, sharply demarcated, slowing enlarging lesions (over years) on trunk; lightly pigmented basaloid cells
seborrheic keratosis
nodular, slowing enlarging lesions MC on head and trunk
basal cell carcinoma
atypical spindle to epitheloid cells that invade dermis. Change appearance over weeks to months
melanoma
most aggressive type of melanoma
nodular
pruritic, purple, polygonal papules with bandlike infiltrate of lymphocytes at dermal-epidermal junction
lichen planus
17yo with hundreds of dark brown pigmented lesions with irregular contours
dysplastic nevus
dysplastic nevus: complicaton
may transform into malignant melanoma
dysplastic nevus: gene
p16INK4a (CDNK2) gene
1.2cm nodule with central keratin-filled crater surrounded by proliferating epithelium. Regresses and disappears in 1mo
keratoacanthoma
0.3cm pearly nodule on upper eyelid
basal cell carcinoma
psoriasis: what areas are MC involved
extensor surfaces of elbows and knees
scalp
sacral area
psoriasis: itchy?
No
deposits of IgA at hte tips of dermal papillae
Dermatitis herpetiformis associated with celiac disease
pigmented macule caused by melanocytic hyperplasia in the epidermis
lentigo
precursor lesion to squamous cell carcinoma
actinic keratosis
scaling, indurated, ulcerated nodule
associated with sun-exposure, arsenic, radiation, x-ray
squamous cell carcinoma
what % of SCC met
less than 5
SCC: tx
excision is curative
cancer involving the lower part of the face
SCC
cancer involving the upper part of the face
Basal cell carcinoma
invasion of dermis by sheets and islands of neoplastic epidermal cells, often with keratin pearls
SCC
MC skin tumor
basal cell carcinoma
pearly papule with overlying telangietctatic vessels
basal cell carcinoma
clusters of darkly staining basaloid cells with a typical palisade arrangement of nuclei.
basal cell carcinoma
what % of basal cell carcinoma met
none
basal cell carcinoma: tx
cured by surgical resection
MCC melanoma
sunlight