DISEASES

Question 1

• skin fragility (minor knocks produce erosions on hand)
• itching and burning precedes blisters on sun exposed skin
• on dorsum of hands, face and upper chest…
  
  • haemorrhagic vesicles
  • bullae
  • crusted erosions
• superficial scars
• milia
• hyperpigmentation
• hypertrichosis
• solar uticardia
• normal teeth unlike congenital erythropoietic porphyria
• normal mucosa unlike some other autoimmune blistering diseases

Answer 1

• Porphyria cutanea tarda PCT type 1

Question 2

investigations for porphyria cutanea tarda?

Answer 2

• urine and stool samples (measure porphyrins)
  
  • urine fluroesces bright pink under UVA lamp
• biopsy a fresh blister
• rule out hepatitis C risk factors
• withdraw precipitating factors i.e. alcohol and oestrogens

Question 3

causative factors of porphyris cutanea tarda?

Answer 3

• alcohol
• oestrogens
• hepatitis C
• haemochromatosis due to iron
• advise strict sun protection

Question 4

treatment for porphyria cutanea tarda?

Answer 4

• low dose HCQ (hydroxychloroquine)
• regular venesection every 2 weeks for 3-6 monts to decrease ion stores

Question 5

what enzyme defect causes erythropoietic protoporphyria?

Answer 5

ferrochelatase enzyme

• mostly enzyme ability is just reduced

Question 6

• rare form of porphyria that presents in childhood
• babies cry bitterly within minutes of sun exposre
• signs are subtle, skin is basically normal between episodes
• Baby feels like its burning but cant communicate it
• 2% of cases lead to liver failure
• disease sensitive to UVA and visible light
• light reflected off anything causes symptoms

Answer 6

erythropoietic protoporphyria

Question 7

• burning, tingling, stinging pain and or itching when exposed to light occuring within minutes of sun exposure
• erythema, uticaria and or swelling when exposed to light
• waxy skin thickening over the knuckles and nose
• elliptical scars on the nose, cheeks and dorsum of hands

Answer 7

erythrpoietic proporphyria

Question 8

investigations for erythopoietic protoporphyria?

Answer 8

• raised protoporphyrins in erythrocytes and stool
• urine not increased ^^
• check FBC some patients are anaemic
• RBC porphyrins
• Hb count
• biliary tract USS

Question 9

treatment for erythopoietic protoporphyria?

Answer 9

• advice on sun exposure protection
• avoid iron
• anti-oxidants (e.g. oral beta carotene) - turns skin orange
• UVB phototherapy
• monitor for cholestasis and progressive liver damage
• give genetic counselling and 6 monthly LFTs

Question 10

• rare autosomal dominant condition
• caused by a deficiency in the PBG deaminase enzyme
• causes acute neurovisceral attacks
• skin is unaffected
• risk of liver cancer and renal failure
• most common type of acute porphyria

Answer 10

acute intermittent porphyria

Question 11

conditions to consider when diagnosing acute intermittent porphyria (extremely rare)

Answer 11

• acute abdomen
• mononeuritis multiplex
• guillian bare syndrome
• pysocoses

Question 12

• nausea
• vomiting
• tachycardia
• low sodium
• neurological and psychiatric sign
• physiological upset
• 4 P’s
  
  • painful abdomen
  • polyneuropathy
  • psychological disturbances
  • port-wine coloured urine

Answer 12

acute intermittent porphyria

Question 13

how is cytochrome P450 protein related to acute intermittent porphyria?

Answer 13

• production triggered by certain drugs
• containts haem
• breaks down many medications

Question 14

presenting complaint

• little to see on skin surface but severe pain
• consider if patient isnt responding to “cellulitis” after antbiotic treatment
• out of proportion pain
• depth and extent may be greater than the appearance of the skin suggest
• presents after a hsitory of trauma (leg operation, insect bite, IV drug abuse)
• altered level of consciousness due to shock
• rapidly spreading and porrly demarcated purplish erythema

Answer 14

necrotising fascitis

Question 15

treatment for necrotising fascitis?

Answer 15

• urgent surgical operation for debridement of necrotic tissue
• combination of IV broad spectrum antibiotics and contact microbiology immediately

Question 16

classification of necrotizing type 1?

Answer 16

mixed anaerobes and coliforms (post abdominal surgery)

Question 17

classification of necrotising fascitis type 2?

Answer 17

group A strep infection

Question 18

when is the only scenario you should take a swab of a leg ulcer?

Answer 18

if signs of active infection suspected (e.g. cellulitis)

Question 19

clinical definition of a leg ulcer?

Answer 19

ulcer between the kneww and ankle joint ongoing for more than 4 weeks

Question 20

what blood vessel is involved in leg ulcers predominantly

Answer 20

80% are venous

Question 21

what should a diagnosis of leg ulcer be based on?

Answer 21

• venous in nature
• arterial
• vasculitis
• malignant
• hydrostatic because no fluid is moving in the limb

Question 22

what strain usually infects a leg ulcer?

Answer 22

• strep pyogens
• staph A
• or other anaerobes in diabetic patients

Question 23

what condition?

• drug induced
• kaeratinocyte death
• results in epidermal detachment at the dermo-epidermal junction
• skin detaches in large necrotic sheets
• high mortality rate

Answer 23

toxic epidermal necrolysis

Question 24

3 step plan for acute allergic reaction?

Answer 24

1. chlorphenamine (dosed by age)
2. treat asthma
3. prednsilone
4. if colapse give adrenaline
5. seek urgent help if child does not imroive

Question 25

difference between IgE mediated and non-IgE in allergy onset?

Answer 25

* IgE mediated = immediate onset * non-IgE mediated = delayed onset

Question 26

what is this?

Answer 26

psoriasis

Question 27

what is the koebner phenomenon?

Answer 27

* psoriasis develops in area of skin trauma (e.g. in scratch mark or scar)

Question 28

name some psoriasis types

Answer 28

Question 29

what is auspitz sign?

Answer 29

* removal of surface scale * reveals tiny bleeding points * (dilated capillaries in elongated dermal papillae)

Question 30

what are the management options for psoriasis?

Answer 30

* vitamin D analogues (calipotriol) * coal tar * dithranol * steroid oitnments * emollients (everyone should use)

Question 31

what classifies as erythrodermic?

Answer 31

covers \>90% of the body

Question 32

what is mild acne?

Answer 32

* scattered papules * pustules * comedones

Question 33

what is moderate acne?

Answer 33

* numerous papules * pustules * mild atrophic scarring

Question 34

what is severe acne?

Answer 34

* cysts * nodules * significant scarring

Question 35

what is this?

Answer 35

rhinophyma

Question 36

persistence of nuceli in the keratin layer

Answer 36

parakeratosis

Question 37

spongiosis

Answer 37

* oedema between karatinocytes * characteristic of eczema

Question 38

one appearance differnece between psoirasis and eczema

Answer 38

eczema is ill defined, psoirasis is well defined

Question 39

is there a difference in dermatitis histologically?

Answer 39

no, all similar histologically

Question 40

treatment of eczema?

Answer 40

1. lots of emollients 2. avoid irritatns incl. shower gels and soaps 3. topical steroids 4. treat infection 5. phototherapy - mainly UVB 6. systemic immunosuppressants 7. (biologic agents)

Question 41

important gene in eczema?

Answer 41

filaggrin

Question 42

what causes pompholyx eczema?

Answer 42

an acute, sudden flare up of eczema

Question 43

what are the mediators of itch?

Answer 43

Question 44

name the causes of itch?

Answer 44

Question 45

when may neuropathic itch occur?

Answer 45

after shingles

Question 46

name some systemic disease associated with itch

Answer 46

haematological paraneoplastic liver and bile duct psychogenic kidney disease thyroid disease

Question 47

name line of management for itch?

Answer 47

1. determine cause if possible 2. treat the cause 3. anti-itch treatments (usualy same as psoriasis) * sedative anti-histamines * emollients * antidepressants * phototherapy * opiate antagonists, odanestron