Porphyrias, is a general term for a group of metabolic diseases that are genetic in nature. In
each specific porphyria the activity of specific enzymes in the heme biosynthetic pathway is …

Summary Background The Dermatology Life Quality Index (DLQI) is one of the most widely
used dermatology‐specific quality of life instruments. Over the last 5 years there has been …

Background Erythropoietic protoporphyria is a severe photodermatosis that is associated
with acute phototoxicity. Patients with this condition have excruciating pain and a markedly …

Retrospective estimates of the prevalence of porphyrias have been reported but there has
been no large scale prospective study of their incidence. The European Porphyria Network …

The porphyrias comprise eight genetic diseases, each corresponding to a specific defect in
the pathway of heme synthesis. Four are termed hepatic, because their clinical …

Porphyrins and metalloporphyrins are the key pigments of life on earth as we know it,
because they include chlorophyll (a magnesium‐containing metalloporphyrin) and heme …

The measurement of health-related quality of life (HRQOL) is increasingly important in
patients with skin diseases. Despite the availability of a variety of instruments and new …

Protoporphyrin IX (PPIX) is an intermediate in the heme biosynthesis pathway. Abnormal
accumulation of PPIX due to certain pathological conditions such as erythropoietic …

Background Erythropoietic protoporphyria and X-linked protoporphyria are inborn errors of
heme biosynthesis that cause elevated circulating levels of metal-free protoporphyrin and …

Porphyria diseases are a group of metabolic disorders caused by abnormal functioning of
heme biosynthesis enzymes and characterized by excessive accumulation and excretion of …