Porphyrias and Photodematology Flashcards
name the 4 main types of porphyrias:
a
(b)
(c)
(d)
(a) phototoxic skin as (erythropoietic protoporphyria)
(b) blistering and fragility skin
(c) acute attack skin
(d) severe congenital (congenital erythropoetic porphyria)
name the important enzyme in porphyria cutanea tarda (PCT) type I.
uroporphyrinogen decarboxylase
list the typical features of a patient with cutanea tarda (PCT) type I.
blisters and fragility
also:
hyperpigmentation
hypertrichosis
solar urticaria
morphoea
name the investigation performed in suspected porphyria cutanea tarda (PCT) type I.
Woods lamp
urine will be pink instead of blue
name 4 underlying causes of porphyria cutanea tarda (PCT) type I.
alcohol
viral hepatitis
oestrogen
haemochromatosis
name the important enzyme and normal metabolite in erythropoietic protoporphyria.
ferrochelatase
protoporphhyrin IX
the ferrochelatase mutation is seen in people of what ethnic decent?
Japanese and Asian
list some clinical features of patients with Erythropoietic protoporphyria.
burning sensation
toxic to light
linear scars like chicken pox
list investigations performed in patients with Erythropoietic protoporphyria.
RBC porphyrins fluorocytes transaminases [Hb] biliary tract USS phototesting
what is the management in patients with Erythropoietic protoporphyria?
6 monthly LFTs and RBC porphyrins
visible light photo protection measures
TL-01 phototherapy
anti-oxidants
what organ often fails in those with EPP?
liver
what should you avoid in those with EPP?
iron
in a differential of:
Acute abdomen
Mononeuritis multiplex
Guillain-Barré syndrome
Psychoses
consider what?
name the important enzyme in this porphyria
acute intermittent porphyria
PBG deaminase
name the anti-oxidants used in the management of EPP
beta-carotene
cysyeine
high dose vitamin C
what can UV light be bone down into?
shortwave (UVC)
middleware (UVB)
UVA-2
UVA-1
