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2005, Number 5

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Med Cutan Iber Lat Am 2005; 33 (5)

Cutaneous porphyrias

Muñoz C, Herrero MC.

Language: Spanish
References: 113
Page: 193-210
PDF size: 658.17 Kb.


ABSTRACT

The porphyrias are a heterogeneous group of disorders caused by genetically determined or acquired partial deficiencies of enzymes regulating heme biosynthesis. According to the presence or absence of cutaneous photosensitivity, these diseases can be classified into cutaneous and noncutaneous porphyrias. There are five main types of cutaneous porphyrias : porphyria cutanea tarda (PCT); variegate porphyria (VP); hereditary coproporphyria (HC); erythropoietic protoporphyria (EPP); and congenital erythropoietic porphyria (CEP). VP, HC, EPP, and one form of PCT (type II) are autosomal dominant conditions with low clinical penetrance. The autosomal recessive prophyrias (CEP and Hepatoerythropoietic porphyria, HEP) are rare disorders with early onset. The skin lesions in PCT (the commonest cutaneous porphyria), VP, HC, and CEP are similar: mechanical fragility, subepidermal bullae, hypertrichosis, and pigmentation. EPP is characterized by acute photosensitivity without these lesions. Acute attacks of porphyria may occur in VP and HC but not in other cutaneous porphyrias. Liver disease is an uncommon, potentially fatal, complication of EPP. PCT is commonly associated with chronic liver disease, is often caused by alcohol and usually mild. The clinical diagnosis should always be confirmed by biochemical porphyrin analyses in urine, stool and blood. PCT can be treated by repeated venesection to deplete iron stores or with low-dose chloroquine. Treatment of the other cutaneous porphyrias is largely symptomatic.


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