Cutaneous (skin) Porphyrias

What is it?

Haem is used in haemoglobin which helps to carry oxygen in our blood to different parts of our body.

In order to produce Haem it takes several stages and when one has a disorder of such pathways it is known as a rare condition called porphyria.

There are several different types of this condition depending on which pathway is affected.

They are described under two categories:

1. Acute Porphyrias

Types of porphyria:

Acute intermittent Porphyria
Variegate Porphyria
Hereditary Corophorpyria
ALA-dehydratase Deficiency Porphyria

2. Cutaneous (skin) Porphyrias

Types of porphyria:

Porphyria Tarda
Erythropoietic protoporphyria
Congenital Erythropoietic Porphyria (occurring in babies passed from mother to foetus)
Variegate Porphyria
Hereditary Corophorpyria
X-linked protoporphyria

Cause

Genetic disorder
Family history (when body not producing the red part of blood cells – heme)
Dieting
Fasting
Excessive intake of iron
Viral infections:
- Hepatitis C
- HIV
Smoking
Sun exposure
Menstrual hormonal conditions:
- Puberty
- Menopause
- Menstruation
Alcohol

Illicit drugs

Medication

Barbiturates
Sleeping medication
Hormonal:
- Contraceptive tablets
- Oestrogen supplements
- HRT

Source: Porphyria for Professionals - UCT

Source: turpinanatomy2 - Wikispaces

Source: Pinterest

Source: DermaAmin

Source: Wikiwand

Symptoms

Swelling of the skin?
Pain?
Increased hair growth?
Darkening and thickening of the skin?
Liver disease (yellow eyes and skin, dark urine, pale faeces, pain in liver area)?

Complications /Information to beware of/General tips:

Do not wait phone, for an ambulance if have or develop:

Coma
Paralysis
Respiratory failure (breathing difficulties)
Liver disease

This condition can lead to:

Gallstones
Skin scarring

This condition may show similar symptoms to:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

Please copy and paste any key words from the title: Cutaneous (skin) Porphyrias in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

NHS
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National Organisation of Rare Diseases
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