China
Africa
Explore chapters and articles related to this topic
Metabolic disorders and reticulohistiocytic proliferative disorders
Published in Rashmi Sarkar, Anupam Das, Sumit Sethi, Concise Dermatology, 2021
The disease onset is usually in the third or fourth decade of life, though it may present earlier in the familial forms. The characteristic features are seen in the light-exposed areas. In the early stages of the disease, blistering and fragility of the skin on the face and backs of the hands are noted (Figure 16.2). The affected areas also develop an odd pigmented and mauve, suffused appearance. Later, increased hair growth occurs on the involved skin and a sclerodermiform thickening of the skin develops. Erosions, crusting, and scarring are also seen in the affected areas. The patients often experience worsening in summer but may not correlate the skin changes with sun exposure as the burning sensation accompanied by severe photosensitivity seen in erythropoietic porphyrias is not seen here.
Liver Diseases
Published in George Feuer, Felix A. de la Iglesia, Molecular Biochemistry of Human Disease, 2020
George Feuer, Felix A. de la Iglesia
Erythropoietic porphyrias are very rare; the defect is in the red blood cell related to a genetically determined abnormality in porphyrin synthesis. Congenital erythropoietic porphyria is a recessive disease characterized by severe photosensitivity, which starts at birth or soon after, and persists throughout life. It leads sometimes to very severe scarring and deformities. Large quantities of porphyrins are deposited in the bones, teeth, and skin, and they become pigmented showing a characteristic red fluorescence in ultraviolet light. Hemolysis often occurs. This form of porphyria is not accompanied by lesions of the abdomen or nervous system.
Inborn errors of metabolism
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
The acute porphyrias form the most striking exception to the rule of recessive inheritance for most inborn errors due to enzyme defects. Acute intermittent porphyria, porphyria variegata, hereditary coproporphyria and protoporphyria all follow autosomal dominant inheritance. Careful investigation of urine and faecal porphyrins, enzyme studies and, where possible, molecular analysis are needed to exclude subclinical disease. Now that specific enzyme and gene defects are known, prenatal diagnosis may be possible but is rarely requested. The severe congenital erythropoietic porphyria follows autosomal recessive inheritance. Porphyria cutanea tarda, the most common of the group, is usually sporadic, with low recurrence risk for family members. This can be dominant or recessive. Much the commonest type is a ‘dominant’ disorder but of low penetrance and that requires adverse environmental factors such as alcoholic liver damage and/or homozygosity (or compound heterozygosity) for iron overload susceptibility variants in the haemochromatosis gene, HFE. Its common representation in textbooks as being inherited in a typically autosomal recessive fashion is misleading.
Porphyrias and photosensitivity: pathophysiology for the clinician
Published in Postgraduate Medicine, 2018
Loukas Kakoullis, Stylianos Louppides, Eleni Papachristodoulou, George Panos
We searched the PubMed and Google Scholar databases for relevant articles, using the key words: ‘acute intermittent porphyria,’ ‘porphyria cutanea tarda,’ ‘hereditary coproporphyria,’ ‘variegate porphyria,’ ‘congenital erythropoietic porphyria,’ ‘erythropoietic protoporphyria,’ ‘X-linked protoporphyria,’ ‘delta aminolevulinic acid dehydratase deficiency porphyria,’ ‘delta aminolevulinic acid toxicity,’ ‘porphyria iron deficiency,’ ‘porphyria photosensitivity mechanism,’ ‘iron deficiency photosensitivity,’ ‘porphyria treatment,’ ‘uroporphyrin phototoxicity,’ ‘protoporphyrin phototoxicity,’ ‘zinc porphyria,’ ‘zinc protoporphyrin,’ ‘heme production regulation,’ ‘ferrochelatase,’ and ‘ferrochelatase production regulation.’ Additional articles relevant to our theme were extrapolated from the references of the articles found during this search.
Givosiran, a novel treatment for acute hepatic porphyrias
Published in Expert Review of Precision Medicine and Drug Development, 2021
Manish Thapar, Sean Rudnick, Herbert L. Bonkovsky
The erythropoietic porphyrias comprise congenital erythropoietic porphyria (CEP), which is due to severe deficiency of uroporphyrinogen III synthase (URO3S) and erythropoietic protoporphyria (EPP), which is usually due to marked deficiency (<25% of normal) of FECH activity. However, about 10% of subjects with the clinical phenotype of EPP have gain-of-function mutations in ALA synthase-2 (the erythroid isoform), the gene for which resides on the X chromosome. Thus, this variant form is also known as X-linked protoporphyria (XLP).
Neurological and neuropsychiatric manifestations of porphyria
Published in International Journal of Neuroscience, 2019
Yiji Suh, Jason Gandhi, Omar Seyam, Wendy Jiang, Gunjan Joshi, Noel L. Smith, Sardar Ali Khan
Congenital erythropoietic porphyria (CEP) is the most rare type of porphyria which was first described by Schultz in 1874 in a 33-year-old man who excreted red urine containing hematoporphyrin [3–5]. In 1913, the photosensitizing properties of porphyrin were tested by Meyer-Betz by self-injecting hematoporphyrin into his vein. He observed photosensitizing lesions uncovered areas of his skin [6]. A study in 1895 by Stokvis revealed that rabbits died when they were injected with dark red urine that contained hematoporphyrin [6, 7].