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Dermatology
Porphyria
Built from Dermatology, 5th Edition
What’s inside
5 sections · 79 slides
Overview
- What this chapter covers
Introduction and classification
What porphyria is, how it is grouped, and why sunlight matters
- What is porphyria?
- The heme biosynthetic pathway
- Two ways to classify the porphyrias
- Classification of the porphyrias into cutaneous and non-cutaneous forms
- Classification of the porphyrias into acute and non-acute forms
- Classification of the porphyrias into acute and non-acute forms (continued)
- Classification of the porphyrias into acute and non-acute forms (continued)
- History of the porphyrias
- Epidemiology
- Genetic aspects of the porphyrias
- How light damages porphyria skin
- Two patterns of skin damage
- Why acute porphyrias attack the nerves
- Other causes of raised porphyrins
Clinical and laboratory investigation
The four-step workup, and why some cases stay hard to pin down
- How porphyria is diagnosed
- Diagnostic approach based on clinical signs and symptoms
- Why diagnosis can be tricky
- Pitfalls in biochemical testing
- Biochemical findings across the porphyrias
The non-acute porphyrias
Five disorders where the skin, not the nerves, bears the brunt
- Five porphyrias that mainly affect the skin
- Porphyria cutanea tarda (PCT)
- Three PCT subtypes
- PCT: skin fragility and blistering
- Facial hypertrichosis in PCT
- Sclerodermatous presentation of porphyria cutanea tarda
- Histology of porphyria cutanea tarda
- PCT: biochemical findings
- What triggers porphyria cutanea tarda
- PCT with hepatitis C infection
- Malar hypertrichosis in porphyria cutanea tarda
- Morpheaform plaques in porphyria cutanea tarda
- Sclerodermatous plaques of the neck and chest
- Erythropoietic protoporphyria (EPP)
- Acute photosensitivity in EPP
- Wax-like scarring in EPP
- Late-onset (adult) EPP
- Histology of erythropoietic protoporphyria
- EPP: biochemistry and liver risk
- Why only some gene carriers get EPP symptoms
- X-linked dominant protoporphyria (XLDPP)
- Congenital erythropoietic porphyria (CEP)
- Severe scarring and erythrodontia in CEP
- Red blood cell fluorescence under UVA light
- CEP: other clinical features
- Hepatoerythropoietic porphyria (HEP)
- Pseudoporphyria
- Drug-induced pseudoporphyria
- Drug-induced pseudoporphyria (continued)
- Drug-induced pseudoporphyria (continued)
- Dialysis-associated pseudoporphyria
- Differential diagnosis of the non-acute porphyrias
- Treatment principles for cutaneous porphyrias
- PCT treatment: phlebotomy
- PCT treatment: hydroxychloroquine
- PCT: newer treatment options
- EPP and XLDPP treatment
- CEP, HEP, and XLDPP: further care
- Therapeutic approaches to the acute porphyrias
- Therapeutic approaches to the non-acute porphyrias
The acute porphyrias
Four disorders that can turn into a medical emergency
- The four acute porphyrias
- Possible manifestations of an acute porphyric attack
- Acute intermittent porphyria (AIP)
- Variegate porphyria (VP)
- Hereditary coproporphyria (HCP)
- ALA-D deficiency porphyria
- Differential diagnosis and patient resources
- Treating the cutaneous symptoms of VP and HCP
- Managing an acute porphyric attack
- Heme preparations
- Givosiran
- Why acute attacks are urgent
- Key takeaways
- References
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- Dermatology, 5th Edition (2-Volume Set)