Hematoporphyrin

HEMATOPORPHYRIN, a congenital condition, was established as a separate nosological unit by Gunther. It is characterized by patients excreting dark (port wine-colored) urine from early childhood. At the same time, exposed parts of the body (face and hands) acquire a dirty-gray or dark-brown coloration. Due to the photodynamic nature of the substance causing this pigmentation, the condition is complicated (mainly in summer) by hydroa aestivalis—skin lesions with blister and ulcer formation that can sometimes lead to mutilation of body parts. Autopsies reveal that the entire bony skeleton, even the roots of teeth, is pigmented dark brown, thus extremely resembling animal and human ochronosis. The essential difference between these two conditions, however, is that in ochronosis melanin is deposited, while in congenital H. a blood derivative, hematoporphyrin, is deposited. The latter is proven by spectroscopy, in which the thinnest sections and scrapings of bones and their extracts (in 5% hydrochloric alcohol) give the characteristic absorption band of hematoporphyrin. Indirect evidence that the pigment in congenital H. is of blood origin, i.e., that this disease is associated with massive blood breakdown in the body, is also the fact that the pigment gives a weak reaction to iron, and microscopic examination of the bone marrow reveals abundant erythroblasts (of normoblastic type), indicating intensive blood regeneration. Additionally, much hemosiderin is found in the bone marrow, spleen, and Kupffer cells of the liver. Lit.: Gunther, Die Hamatoporphyrie, Deutsches Archiv f. klinische Medizin, Band CV, 1912; Vorst M., Uber kongenitale Porphyrie, Verhandlungen d. deutschen pathologischen Gesellschaft, 23. Tagung in Wiesbaden, Jena, 1928.