Porphyria variegata

Atsmon A, Blum I. Treatment of acute porphyria variegata with propranolol. Lancet 1970 24 196-197. 

HMBS hydroxymethylbilane-synthase, Intermediaries heptacarboxy-, hexacarboxy-and pentacarboxyporphyrins, MIM Nr Mendelian Inheritance in Man number, PCT porphyria cutanea tarda, Proto protoporphyrin IX, PV porphyria variegata, Uro uroporphyrin... 

Fig. 7.3.4a-c Chromatograms of fecal porphyrins, (a) from a healthy individual, (b) from an individual with porphyria cutanea tarda, and from an individual with porphyria variegata (c)... 

Porphyria variegata is caused by protoporphyrinogen oxidase deficiency. Transmission is autosomal dominant (chromosome 1 q 23). The frequency is 1 100,000. The clinical picture is characterized by skin changes similar to PCT (men > women), abdominal pain... 

Sykes RM, Seizure 10(1), 64 Porphyria cutanea tarda Porphyria variegata... 

Acute porphyria myelodysplastic syndromes Porphyria variegata and heredita coproporphyria Acute porphyric syndromes Cystic fibrosis... 

Variegate porphyria, or Porphyria variegata, or Protocoproporphyria, or South African hepatic porphyria. 

The rare porphyrias with an autosomal recessive inheritance, mostly are symptomatic in the neonatal or even in the prenatal period. Generally, their symptoms are more severe than those of the autosomal dominant forms. Some variant porphyrias resulting from combined forms (e.g. inheritance of porphyria variegata and of porphyria cutanea tarda) or from homozygous inheritance of otherwise heterozygous porphyrias (homozygous porphyria variegata) [2] have been described in a few case reports. 

Porphyria variegata Acute attacks and/or cutaneous (blisters and skin fragility) After puberty (adolescence and senescence) Relatively frequent... 

Table 31 3 2 The acute porphyrias, acute-intermittent porphyria (51 2), porphyria variegata (31.6) and hereditary coproporphyria (31.5), during latent phases ...

Acute intermittent porphyria Hereditary coproporphyria Porphyria variegata... 

In three of the hereditary hepatic porphyrias, acute intermittent porphyria, porphyria variegata [64], and hereditary coproporphyria [65, 66] neurological abnormalities are recognized, of varying character and severity, and similar changes are described in a minority of cases of acquired hepatic porphyrias. 

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