Genetic, autoimmune + inflamm

Question 1

what inheritance is NFT

Answer 1

dominant

Question 2

NFT type 1 symptoms

Answer 2

cafe-au laits, frexiles, peripheral fibromas, phaechromoctyoma

Question 3

NFT type 2 symptoms

Answer 3

bilateral vestibular schwannoma, intracranial tumours

Question 3

inheritance tuberous sclerosis

Answer 3

dominant

Question 4

cutaneous tuberous sclerosis symtpoms

Answer 4

ash-leaf spots under UV // shagreen patches on lumbar spine // angiofibroma on nose // subungal nail fibromata // cafe-au lait spots

Question 5

neuro + systemic symptoms tuberous slcerosis

Answer 5

seizures, developmental delay, retinal tumour, rhadbomyoma of heart

Question 6

inheritance hereditary haemorrhagic telangiectasia

Answer 6

dominant

Question 7

diagnostic criteria hereditary haemorrhagic telangiectasia

Answer 7

2 is likely, 3 is definite // epistaxis // telangiectasias // visceral legions // 1st degree FH

Question 8

what is Epidermolysis bullosa (EB)

Answer 8

skin fragility

Question 9

what deficiency in Epidermolysis bullosa (EB)

Answer 9

collagen VII

Question 10

what type of condition is bullous pemphigoid + what Ig is involved

Answer 10

autoimmune: IgG against hemidesmosome proteins

Question 11

where do blisters in bullous pephigoid form

Answer 11

between dermis + epidermis (Deep)

Question 12

symptoms bullous pemphigoid

Answer 12

elderly // tense, itchy blisters on flexures // no mucosal involvement eg mouth spared

Question 13

skin biopsy bullous pemphigoid

Answer 13

immunoflourence –> IgG and C3 at DEJ // no acantholysis (fluid between epithelial cells)

Question 14

mx bullous pemphigoid

Answer 14

refer –> oral steroids +/- topical steroids - +/- tetracycline +/- immunosuppressant

Question 15

antibodies in pemphigus vulgaris

Answer 15

autoimmune to desomglein 3

Question 16

symptoms pemphigus vulgaris

Answer 16

mucosal ulceration esp oral // superficual skin blisters: easy to rupture // painful not itchy // Nikolsy+ - spread of bullae when horizontal spread

Question 17

biopsy pemphigus vulgaris

Answer 17

IgG + acanthylosis

Question 18

mx pemphigus vulgaris

Answer 18

1 = steroids, 2 = immunosuprresants eg cyclophosphamide

Question 19

what gene + condition is assoc with dermatitis herpetiformis

Answer 19

coeliac - HLA DQ2

Question 20

symptoms dermatitis herpetiformis

Answer 20

itchy vesicles on extensor surfaces eg elbow, knees, buttocks

Question 21

biopsy + Ig dermatitis herpetiformis

Answer 21

immunoflouresence: IgA in DERMIS

Question 22

mx dermatitis herpetiformis

Answer 22

gluten free diet + dapsone

Question 23

what type of condition is vitiligo

Answer 23

autoimmune

Question 24

assoc conditions vitiligo

Answer 24

T1DM, addisons, thyroid disease, pernicious anaemia, alopecia areata

Question 25

symptoms vitiligo

Answer 25

peripheries >> koebner phenmenon

Question 26

mx vitiligo

Answer 26

suncream // steroid if early enough // tacrolimis and phototherapy

Question 27

what is hiradentis suppurativa

Answer 27

inflamm disorder of apocrine gland --> nodules, pustules, red skin, rope-like scars in skin folds (groin, armpit, arse crack)

Question 28

RF hiradentis suppurativa

Answer 28

young female, FH, smoking, obesity, PCOS, stretching of skin

Question 29

most common site hiradentis suppurativa

Answer 29

axilla

Question 30

complications hiradentis suppurativa

Answer 30

lympahdema, lymph obstruction (scars, sinus tracts)

Question 31

what is pyoderma ganrenosum

Answer 31

inflamm neutrophillic infilatration --> very painful, angry ulcers

Question 32

common site pyoderma ganrenosum

Answer 32

lower legs

Question 33

causes pyoderma ganrenosum

Answer 33

idiopathic 50% // IBD, RA, SLE, haem, GPA, primary biliarry cirrhosis

Question 34

symptoms pyoderma ganrenosum

Answer 34

lower limb // sudden onset as small pustule --> ulcer, purple, necroitc, fever

Question 35

mx pyoderma ganrenosum

Answer 35

1 = oral steroids // 2 = immunosuprresion eg ciclosporin, infliximab

Question 36

what is lichen sclerosus

Answer 36

inflamm of genetalia --> atrophy of epidermis + plaque formation

Question 37

symptoms lichen sclerosis

Answer 37

elderly women - white patches, itchy, painful sex or peeing

Question 38

risk of lichen slcerosus

Answer 38

vulvar cancer

Question 39

mx lichen sclerosus

Answer 39

topicl steroids + lube

Question 40

what type of disease is lichen planus

Answer 40

thought to be immune

Question 41

symptoms lichen planus

Answer 41

itchy, papular rash // whie lacy line on surfcae (wickham stria) // koebner phenomenon // nail thinning // common on palms, soles, genitalia, flexors, mouth

Question 42

causes of lichenoid drug eruptions

Answer 42

gold, quinine, thiazide

Question 43

mx lichenoid erruption

Answer 43

topical steroids // benzydamine mouth wash if oral // if extensive oral steroids

Question 44

what is Porphyria cutanea tarda (PCT)

Answer 44

defect in uroporphyrinogen decarboxylase

Question 45

what causes (PCT)

Answer 45

inherited or liver damage eg alcohol, hep C, haemochromatosis, oestrogen

Question 46

symptoms PCT

Answer 46

photosensitive rash + blisters on hands and face // hypertrichosis // hyperpigmenation

Question 47

invx PCT

Answer 47

urine: elevated urophorphyrinogen // wood lamp: urine pink fluorescence // raised iron ferritin

Question 48

mx PCT

Answer 48

chloroquine (anti-malarial) + venesection (if ferritin >600)

Question 49

what deficiency in erythropoetic protoporphyria

Answer 49

ferrochelatase

Question 50

symptoms erythropoetic protoporphyria

Answer 50

childhood UV --> blistering, swelling, itchy, red

Question 51

inheritance + defect acute intermittent porphoryia

Answer 51

dominant - PBG deaminase

Question 52

who gets acute intermittent porphoryia

Answer 52

females 20-40

Question 53

symptoms acute intermittent porphoryia

Answer 53

abdo pain // motor neuropathy // depression // hypertension

Question 54

invx acute intermittent porphoryia

Answer 54

urine turns red on standing // raised urinary PBG // assay red cells PBG deaminase // raised serum PBG

Question 55

mx PBG deaminase

Answer 55

1 = IV haematin or haem arginate // 2 = IV glucose