Porphyria/Photodermatology

Question 1

How many Normal Fitzpatrick sun-reactive skin phototype categories are there?

Answer 1

SPT i to iv (sometimes there is v& vi added)

Question 2

Type 1 photosensitivity?

Answer 2

Always burns doesn’t tan

Question 3

Type 2 photosensitivity?

Answer 3

Usually burns but then tans

Question 4

Type 3 photosensitivity?

Answer 4

Mostly tans

Question 5

Whar are chromophores?

Answer 5

The chemicals that absorb radiation

Question 6

What do all the skin porphyrias involve?

Answer 6

Porphyrins as chromophores

Question 7

Porphyrins accumulate depending on?

Answer 7

How much water is present

Question 8

Main groups of porphyrias?

Answer 8

• Phototoxic skin porphyrias
• Blistering and fragility skin porphyrias
• Acute attack porphyrias
• Severe congenital porphyrias

Question 9

Example of phototoxic skin porphyrias?

Answer 9

erthrypoietic protoporphyria

Question 10

More common skin porphyria features?

Answer 10

Blistering and fragility

Acute phototoxic

Question 11

Porphyria cutanea tarda (PCT) is type?

Answer 11

1

Question 12

Porphria cutanea tarda involves the liver how?

Answer 12

Liver doesn’t break down a metabolite

Question 13

2 steps to diagnose PCT?

Answer 13

Diagnosis of PCT

Diagnosis of the causes of PCT

Question 14

Typical presentation of PCT?

Answer 14

Blisters 
Fragility 
-Hyperpigmentation 
-Hypertrichosis (abnormal hair growth)
-Solar urticaria 
-Morphaea

Question 15

Milia are?

Answer 15

Small white firm bumps (like the one under Jamie’s eyes)

Question 16

How do milia occur?

Answer 16

When keratin becomes trapped under the surface of the skin

Question 17

Investigations for porphyrians?

Answer 17

Woods lamp

Question 18

Possible underlying causes of PCT?

Answer 18

Alcohol
Viral hepatitis
Oestrogens
Haemochromatosis

Question 19

Aims of PCT treatment?

Answer 19

Relieve the skin disease

Treat underlying diseases to reduce the liver cirrhosis, hepatoma

Question 20

Woods lamp results for PCT?

Answer 20

Urine glows purple, whereas a normal patient would glow blue

Question 21

What is EPP?

Answer 21

Erythropoietic protopoprhyria

Question 22

Which enzyme has reduced activity in erythropoietic protoporphyria causing a build up of porphyrin?

Answer 22

Ferrochelatase

Question 23

Investigations for EPP?

Answer 23

Quantitative RBC porphyrins 
Flurocytes 
Transaminases 
[Hb] Red cell indices 
Biliary tract USS
Phototesting

Question 24

Inheritence of EPP?

Answer 24

Autosomal co-dominant

Question 25

Erthropoietic Protoporphyria is very rare. True or False?

Answer 25

True

Question 26

Signs of EPP?

Answer 26

- Subtle swelling | - Cold water helping sooth pain

Question 27

Management of EPP?

Answer 27

6 monthly LFTs and RBC porphyrins Visible light photoprotection measures Avoid Iron

Question 28

Photoprotection measures?

Answer 28

``` Behavioral Clothing Environmental Topical sunscreen -TiO2 and ZnO cream Prophylactic TL-01 phototherapy Antioxidants Incipient liver failure- oral charcoal, cholestyramine ```

Question 29

Acute intermittent porphyria other options to consider in DD?

Answer 29

Acute abdomen Mononeuritis multiplex Guillain-Barre syndrome Psychosis

Question 30

Does acute intermittent porphyria usually affect the skin?

Answer 30

NO