Hepatic disease in erythropoietic protoporphyria.

A standardized hepatological investigation was performed in 9 unselected patients with erythropoietic protoporphyria (EPP). The aim of this study was to detect early liver involvement due to EPP and to determine the significance of several diagnostic procedures. Scintigraphy revealed slight enlargement of liver and spleen in all cases. Light microscopic examination of liver tissue in 7 patients showed protoporphyrin deposition in 4 and signs of fibrosis in 3 cases. Cirrhosis was not found. Electron microscopical examination (EM) of all 7 cases was negative and needle-shaped crystals were not found. Therefore we regard EM of little diagnostic value in the detection of early liver involvement. The literature on fatal and asymptomatic cases of liver involvement in EPP is discussed with emphasis on possible predictive and provocative factors. A proposal for EPP patients intending to reduce possible risk factors is made.

Partial lyonisation of steroid sulphatase gene in single hair roots.

Steroid sulphatase (STS) activity was measured in single hair roots from 9 patients with X-linked ichthyosis, 7 obligate heterozygotes, 12 male controls and 12 female controls. STS activity was deficient (less than 0.3 pmol dehydroepiandrosterone (DHEA) in 5 h per hair root) in the patients as compared to male controls (4.6 +/- 1.8 pmol DHEA in 5 h per hair root). All single hair roots from obligate heterozygotes showed STS activity (3.0 +/- 0.9 pmol DHEA in 5 h per hair root). Female controls had a significantly higher STS activity (6.0 +/- 1.8 pmol DHEA in 5 h per hair root) than male controls (p less than 0.05) and heterozygotes (p less than 0.001). Both the female-male sex ratio of control STS activity (1.3) and the absence of STS-deficient hair roots in heterozygotes confirm previous evidence for incomplete lyonisation of the X-linked steroid sulphatase gene.