Biochemistry Flashcards
what is the scale that describes a person’s photosensitivity/skin type
Fitzpatrick skin scale
example of a phototoxic porphyria
erythropoietic protoporphyria
example of severe congenital porphyria
congenital erythropoietic porphyria
describe congenital erythropoietic porphyria
AR condition with extreme sensitivity to sunlight developing disfiguring scars
other presentations include dystrophy of nails, blindness and brown discolouration of teeth
define porphyria
heterogenous group of conditions caused by abnormalities in enzymes involved in making haem, resulting in overproduction of the intermediate compounds called porphyrins
what is porphyria cutaenea tarda a deficiency of?
the enzyme uroporphyrinogen decarboxylase
presentation of porphyria cutaenea tarda
bullous blisters (sunlight) hyperpigmentation hypertrichosis solar urticaria morphoea liver disease may also be present (alcohol linked as a cause of this condition)
investigations for porphyria cutaenea tarda
woods lamp
management of porphyria cutaenea tarda
treat liver disease
what is erythropoietic protoporphyria a deficiency of
ferrochelatase (AD)
presentation of erythropoietic protoporphyria
irritation and burning pain in skin when exposed to sunlight
investigations for erythropoietic protoporphyria
RBC
fluorocytes
USS of biliary tract
management of erythropoietic protoporphyria
6 month LFTs
RBC porphyrins
photoprotection measures
