PMID: 8959061Jan 1, 1996Paper

Homozygote erythropoietic protoporphyria associated with porokeratosis

Annales de dermatologie et de vénéréologie
V PhilippotH Perrot

Abstract

Erythropoietic protoporphyria was generally assumed to be an autosomal dominant disease with variable penetrance. The determination of the ferrochelatase activity and the biological molecular studies have shown that both autosomal dominant and recessive patterns of inheritance are possible. Is reported the case of a 17 years-old male patient with erythropoietic protoporphyria and porokeratosis. There are some hepatic biochemical abnormalities without cholelithiasia and without pathological change of the liver biopsy. Leucocyte ferrochelatase activity is decreased to 5 p. 100 of the normal mean level. In both the parents, without photosensitivity, the enzyme activity is reduced to 40 p. 100 of the normal values. The patients with severe ferrochelatase defect have no more important clinical manifestations than in the usual form of erythropoietic protoporphyria. For clarify the exact mode of inheritance, the determination of the ferrochelatase activity and the identification of the mutations in the patient and his parents are necessary. In our patient the porokeratosis should be in relation with the protoporphyrin induced phototoxic reaction which facilitate the emergence of a mutant cellular clone of epithelial cells.

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.