Skin Disease for Specialists

Question 1

T1 neurofibromatosis

Answer 1

AD disease, mutations in neurofibromin 1

Question 2

cutaneous findings of neurofibromatosis

Answer 2

neurofibromas, cafe au lait, freckling, plexiform neurofibroma (like bag of worms)

Question 3

systemic manifestations of NF1

Answer 3

ocular lisch nodules or gliomas

skeletal dysplasia

pheocrhomocytoma

learning disabilities

Question 4

tx for NF

Answer 4

excision of changing or dx neurofibromas

optic and pheochromocytoma screening

Question 5

patho of tuberous sclerosis

Answer 5

cutaneous lesions and peripheral CNS neoplasms

Question 6

inheritance of tuberous sclerosis

Answer 6

AD w/ incomplete penetrance

mutation of TSC1 and TSC2

Question 7

cutaneous clin pres of tuberous sclerosis

Answer 7

facial angiofibromas

hypomelanotic macules, shagreen patch (leather like, connective tissue nevi), periungual fibromas (toes)

Question 8

systemic manifestations of tuberous sclerosis

Answer 8

oral, ocular, cardiac (myocardial rhabdomyoma), neurological (seizures), renal

Question 9

pyoderma gangrenosum def

Answer 9

uncommon recurrent cutaneous ulcerative skin disease

related to IBD or heme malignancy, half idiopathic

Question 10

dx of pyoderma gangrenosum

Answer 10

exclude infection w/ biopsy and culture

hx of undelrying disorder

rapid resposnse to systemic CS

pathergy

Question 11

debridements w/ pyoderma

Answer 11

multi can be devastating- continual wound breakdown

Question 12

tx for pyoderms

Answer 12

CS

immunomodulation

Question 13

def lichen sclerosis

Answer 13

inflammatory disease leading to white scar atrophy, either anogenital or extragenital (less common)

Question 14

pres of lichen sclerosis

Answer 14

pain, fissures, pruritis

can cause scarring, vaginal urethral stenosis

Question 15

tx for lichen sclerosis

Answer 15

high potency topicals (clobetasol)

Question 16

pres of delusions of parasitosis

Answer 16

usually 50s-60s

long term sx, multi physicians

hx of pesticide use, changing residence

all derm findings self induced

Question 17

morgellons vs delusions of parasitosis

Answer 17

morgellons- “fibers” coming from skin

delusions- infested w/ parasites

Question 18

helpful meds w/ delusions

Answer 18

antipsychotics- pimozide and risperidone have been helpful

Question 19

pato of infantile hemangioma

Answer 19

benign growth of endothelial tissue, most common tumor in infants

Question 20

risks for hemangioma

Answer 20

female, prematurity

Question 21

deep vs superficial hemagioma

Answer 21

superficial bright red

deep is blue nodule

Question 22

complications of hemangioma

Answer 22

ulceration, disfigurement

part of PHACES syndrome (cardiac, eye, sternal, arterial abnormalities)

Question 23

risk w/ diffuse neonate hemangiomas

Answer 23

high output cardiac failure

Question 24

tx for hemangiomas

Answer 24

observation if low risk

high risk or large: tx w/ propanalol, CS or vincristine second and third line

Question 25

patho of port wine stain

Answer 25

congenital capillary malformaion, well demarcated red macules and patches at birth

Question 26

clin assoc w/ PWS

Answer 26

surge weber syndrome- PWS in V1/V2 assoc w/ leptomeningeal angiomas (develop delay, seizures, ocular abnormalities)

midline lumbosacral assoc w/ spinal dysraphism

Question 27

mistaken for PWS

Answer 27

nevus simplex- angel kiss or stork bite

more prominenet w/ crying, many fade on their own

Question 28

PWS tx

Answer 28

latser therapy, better when treated young

Question 29

define kaposi sarcoma

Answer 29

endothelial neoplasm linked to HHV8, most common in AIDS or transplant pts

Question 30

pres of kaposi

Answer 30

dark, violaceous plaques or nodules

Question 31

tx for kaposi

Answer 31

prevent w/ HAART

advanced tx w/ systemic chemo

Question 32

patho of hidrenitis suppurativa

Answer 32

aka acne inversa

inflammatory disorder of hair follicle- causes abscesses nodules and sinuses (tunnels connected to skin surface)

not from infection or hygeine

Question 33

tx for hidrenitis supp

Answer 33

long term abx

OCPs and spironolactone for women

systemic anti inflammatories- adalimumab

I and D acutely, sometimes wide excision