Lipoid proteinosis and erythropoietic protoporphyria. A histological and histochemical study

Molecular characterization of erythropoietic protoporphyria in South Africa

“…Indeed, the disease has been described in a few case reports. [32][33][34][35][36][37] This study is the first to assemble a cohort of all South African subjects known by our Centre to have EPP, and to investigate their disease at a molecular level. Here we describe four primary FECH mutations (one novel) associated with EPP.…”

“…While variegate porphyria is a relatively common condition in South Africa, as a result of a classic founder effect arising from a Dutch immigrant in the 1600s, 30,31 EPP does occur, but at a much lower frequency. Indeed, the disease has been described in a few case reports 32–37 . This study is the first to assemble a cohort of all South African subjects known by our Centre to have EPP, and to investigate their disease at a molecular level.…”

Erythrohepatic protoporphyria and its treatment with beta-carotene

“…I lyaline ma terial is dcposited around vcssels in the outcr corium in those parts of the skin exposed lo sun shine (21). 0oth histologically and hi,tochemically the material clo�ely resemblcs that found in lipoid proteinosis (28). There is no porphyrin fluorc scence in the dcrmis or epidermis (23).…”

Erythropoietic protoporphyria. Histochemical study of hyaline material

“…When basic dyes are buf fered at low pH, the anionic sites of the sub strate internet with the cations of protein, thus preventing a complete binding with the dye cations. Some workers (14,20) indicated that the hyaline material showed a weak affinity for alcian blue at pH 2.5, and stained metacbromati cally with basic dyes at pH 4.0 or higher. Larsen (7) showed that at a high temperature, highly concentrated dye cations can exchange with the blocking protein.…”