Topi G, D'Alessandro Gandolfo L
Br J Dermatol. 1977 Dec;97(6):617-27. doi: 10.1111/j.1365-2133.1977.tb14268.x.
The existence of hereditary porphyria cutanea tarda must be supported by chemical and clinical investigations capable of discriminating this porphyria from porphyria variegata, because the clinical symptoms may overlap. On the basis of such investigations (normal urinary excretion of deltaALA and of porphobilinogen; urinary excretion of large amounts of 8- and 7-carboxyl porphyrins; faecal coproporphyrin and X porphyrin fractions may be increased) we have been able to classify 14 cases, out of 200 cases of PCT that we have observed in the last 7 years, as hereditary PCT. The 14 patients belong to 5 different families: two members in each of the first three families, 3 members in the fourth, and 5 members in the fifth. In this last family heredity is bilateral.
迟发性皮肤卟啉症遗传型的存在必须通过化学和临床检查来证实，这些检查应能够将这种卟啉症与杂色卟啉症区分开来，因为它们的临床症状可能重叠。基于这些检查结果（δ-氨基-γ-酮戊酸和卟胆原的尿排泄正常；大量8-羧基和7-羧基卟啉的尿排泄；粪便粪卟啉和X卟啉组分可能增加），在过去7年中我们观察的200例迟发性皮肤卟啉症病例中，我们已能够将14例归类为遗传性迟发性皮肤卟啉症。这14名患者分属5个不同的家族：前三个家族各有两名成员，第四个家族有3名成员，第五个家族有5名成员。在最后这个家族中，遗传是双侧性的。
