Special Skin Cases

Question 1

what disease presents with abnormal skin findings and neurologic anomalies?

Answer 1

neurofibromatosis type 1

Question 2

how is neurofibromatosis type 1 inherited

Answer 2

AD

Question 3

name the four skin findings in neurofibromatosis type 1?

Answer 3

neurofibromas
cafe au lait
axillary and inguinal freckling
plexiform neurofibroma

Question 4

what is a plexiform neurofibroma?

Answer 4

a big neurofibroma that feels like a sack of worms

big skin patch that is brown

Question 5

what are cafe au lait macules?

Answer 5

brown patches that have regular borders and unifrom pigmentation

Question 6

what are the 2 eye findings in neurofibromatosis type 1?

Answer 6

lisch nodules and optic gliomas

Question 7

how do you manage the neurofibromas in neurofibromatosis type 1?

Answer 7

should excise any rapidly changing ones

Question 8

what disorder presents with cutaneous lesions and peripheral/CNS neoplasms?

Answer 8

tuberous sclerosis

Question 9

how is tuberous sclerosis inherited

Answer 9

AD

Question 10

what are two genes in tuberous sclerosis?

Answer 10

TSC1 and 2

Question 11

name the four skin findings in tuberous sclerosis

Answer 11

angiofibromas
hypomelanotic macules
shagreen patch
periungal fibromas

Question 12

what is a shagreen patch?

Answer 12

connective tissue nevi that is hyper or hypopigmented

Question 13

how do shagreen patches feel?

Answer 13

leather like

Question 14

what other organs have issues in tuberous sclerosis?

Answer 14

cardiac
renal
oral
optic
neurological

Question 15

what is a neuro finding in tuberous sclerosis/

Answer 15

seizures

Question 16

what is a oral finding in tuberous sclerosis?

Answer 16

gingival fibromas and dental enamel pits

Question 17

spontaneous quickly growing painful ulcers on legs are likely to be what?

Answer 17

pyoderma gangrenosum

Question 18

what does pyoderma gangrenosum start as and what does it lead to?

Answer 18

papulopustule leads to a big ulcer

Question 19

where is pyoderma gangrenosum commonly found?

Answer 19

lower extremities

Question 20

what is pyoderma gangrenosum associated with?

Answer 20

IBD

Question 21

what can trigger pyoderma gangrenosum?

Answer 21

surgery and wound debridement

Question 22

what is treatment for pyoderma gangrenosum?

Answer 22

wound management and systemic steroids

Question 23

what is lichen sclerosus?

Answer 23

inflamm disease that leads to ivory white scar like atrophy

Question 24

where does lichen sclerosus commonly occur?

Answer 24

in genitals

Question 25

what are symptoms of anogenital lichen sclerosus?

Answer 25

pain and pruritis...also can be asymptomatic

Question 26

is anogenital or extragenital lichen sclerosus more common?

Answer 26

anogenital by far

Question 27

how does lichen sclerosus appear on skin?

Answer 27

white scarring and atrophy

Question 28

what is treatment for lichen sclerosus?

Answer 28

high potency steroid like clobetasol for 12-24 weeks

Question 29

what is Morgellons Disease?

Answer 29

delusions of parasitosis...

Question 30

what is delusions of parasitosis?

Answer 30

people think they keep getting infected with worms and try to pull them out and treat themselves with pesticides

Question 31

infantile hemangiomas often occur in what locations?

Answer 31

face or in dermatome pattern

Question 32

what is treatment for infantile hemangiomas?

Answer 32

beta blockers

Question 33

what is a port wine stain? where is it found?

Answer 33

red macules and patches on the face that are present at birth

Question 34

how do port wine stains change over time?

Answer 34

start red and get a deeper purple hue and then progress to having nodules

Question 35

what causes port wine stain?

Answer 35

congenital capillary malformation

Question 36

what are port wine stains associated with clinically?

Answer 36

SturgeWeber syndrome

Question 37

how to treat port wine stain?

Answer 37

laser therapy

Question 38

how does kaposi sarcoma appear on skin?

Answer 38

dark violaceous plaques and nodules

Question 39

what causes kaposi sarcoma?

Answer 39

neoplasm of endothelial cells linked to HHV8``

Question 40

who gets kaposi?

Answer 40

HIV

Question 41

what should HIV patient be on to prevent kaposi?

Answer 41

HAART

Question 42

what is treatment for Kaposi? when?

Answer 42

chemotherapy when extensive disease

Question 43

what is a disease that presents with recurring bouts of incision and drainage?

Answer 43

hidradenitis supporative

Question 44

what is another name for hidradenitis supporative?

Answer 44

acne inversa

Question 45

explain the pathology behind acne inversa?

Answer 45

inflamm disorder of hair follicle causes abscesses and nodules and sinuses

Question 46

what are sinuses in acne inversa?

Answer 46

epitheliazed tunnels with multiple connections to skin surface

Question 47

who gets more acne inversa?

Answer 47

females..smokers..obesity

Question 48

when does acne inversa usually start?

Answer 48

20 and 30s

Question 49

what does early disease with acne inversa look like?

Answer 49

mainly just recurrent nodules and abscessed with no scarring

Question 50

what does severe disease with acne inversa look like?

Answer 50

lots of sinuses and scarring

Question 51

what are treatment options for acne inversa?

Answer 51

long term abx | systemic anti inflamm drugs

Question 52

name the systemic anti inflamm drug for acne inversa?

Answer 52

adalimumab

Question 53

what two drugs sometimes help acne inversa for women?

Answer 53

OCPs and spiranolactone

Question 54

what is a key difference in morgellons disease and delusions of parasitosis?

Answer 54

morgellons has fiber extruding from skin