Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

FINALS - DERM > Genetic, autoimmune + inflamm > Flashcards

Genetic, autoimmune + inflamm Flashcards

1
Q

what inheritance is NFT

A

dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

NFT type 1 symptoms

A

cafe-au laits, frexiles, peripheral fibromas, phaechromoctyoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

NFT type 2 symptoms

A

bilateral vestibular schwannoma, intracranial tumours

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

inheritance tuberous sclerosis

A

dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

cutaneous tuberous sclerosis symtpoms

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

neuro + systemic symptoms tuberous slcerosis

A

seizures, developmental delay, retinal tumour, rhadbomyoma of heart

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

inheritance hereditary haemorrhagic telangiectasia

A

dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

diagnostic criteria hereditary haemorrhagic telangiectasia

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

what is Epidermolysis bullosa (EB)

A

skin fragility

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

what deficiency in Epidermolysis bullosa (EB)

A

collagen VII

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

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

A

autoimmune: IgG against hemidesmosome proteins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

where do blisters in bullous pephigoid form

A

between dermis + epidermis (Deep)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

symptoms bullous pemphigoid

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

skin biopsy bullous pemphigoid

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

mx bullous pemphigoid

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

antibodies in pemphigus vulgaris

A

autoimmune to desomglein 3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

symptoms pemphigus vulgaris

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

biopsy pemphigus vulgaris

A

IgG + acanthylosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

mx pemphigus vulgaris

A

1 = steroids, 2 = immunosuprresants eg cyclophosphamide

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

what gene + condition is assoc with dermatitis herpetiformis

A

coeliac - HLA DQ2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

symptoms dermatitis herpetiformis

A

itchy vesicles on extensor surfaces eg elbow, knees, buttocks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

biopsy + Ig dermatitis herpetiformis

A

immunoflouresence: IgA in DERMIS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

mx dermatitis herpetiformis

A

gluten free diet + dapsone

23
Q

what type of condition is vitiligo

A

autoimmune

24
Q

assoc conditions vitiligo

A

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

25
Q

symptoms vitiligo

A

peripheries&raquo_space; koebner phenmenon

26
Q

mx vitiligo

A

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

27
Q

what is hiradentis suppurativa

A

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

28
Q

RF hiradentis suppurativa

A

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

29
Q

most common site hiradentis suppurativa

A

axilla

30
Q

complications hiradentis suppurativa

A

lympahdema, lymph obstruction (scars, sinus tracts)

31
Q

what is pyoderma ganrenosum

A

inflamm neutrophillic infilatration –> very painful, angry ulcers

32
Q

common site pyoderma ganrenosum

A

lower legs

33
Q

causes pyoderma ganrenosum

A

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

34
Q

symptoms pyoderma ganrenosum

A

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

35
Q

mx pyoderma ganrenosum

A

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

36
Q

what is lichen sclerosus

A

inflamm of genetalia –> atrophy of epidermis + plaque formation

37
Q

symptoms lichen sclerosis

A

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

38
Q

risk of lichen slcerosus

A

vulvar cancer

39
Q

mx lichen sclerosus

A

topicl steroids + lube

40
Q

what type of disease is lichen planus

A

thought to be immune

41
Q

symptoms lichen planus

A

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

42
Q

causes of lichenoid drug eruptions

A

gold, quinine, thiazide

43
Q

mx lichenoid erruption

A

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

44
Q

what is Porphyria cutanea tarda (PCT)

A

defect in uroporphyrinogen decarboxylase

45
Q

what causes (PCT)

A

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

46
Q

symptoms PCT

A

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

47
Q

invx PCT

A

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

48
Q

mx PCT

A

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

49
Q

what deficiency in erythropoetic protoporphyria

A

ferrochelatase

50
Q

symptoms erythropoetic protoporphyria

A

childhood UV –> blistering, swelling, itchy, red

51
Q

inheritance + defect acute intermittent porphoryia

A

dominant - PBG deaminase

52
Q

who gets acute intermittent porphoryia

A

females 20-40

53
Q

symptoms acute intermittent porphoryia

A

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

54
Q

invx acute intermittent porphoryia

A

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

55
Q

mx PBG deaminase

A

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

FINALS - DERM (11 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions