PMID: 3319294Nov 1, 1987Paper

Homozygous variegate porphyria. A severe skin disease of infancy

Clinical Genetics
P MustajokiR Norio

Abstract

A boy exhibited severe bullous skin disease a few days after birth, followed by increased fragility of the exposed skin in spring and summer. Examination at 2 1/2 years of age led to characteristic biochemical findings: increased excretion of fecal porphyrins (coproporphyrin 121 to 131 and protoporphyrin 467 to 576 nmol/g dry weight), and increased erythrocyte protoporphyrin concentration (3643 to 4840 nmol/l). Lymphocyte protoporphyrinogen oxidase activity was very low in the patient (0.4 nmol/mg protein/h) and half-normal (2.7 and 2.3 nmol/mg protein/h) in the parents, suggesting that the patient had homozygous variegate porphyria. Severe skin symptoms and a high concentration of red cell protoporphyrin concentration in an infant should prompt suspicion of homozygous acute hepatic porphyria.

References

Dec 24, 1977·Lancet·B GrandchampY Nordmann
Aug 1, 1978·Annals of Internal Medicine·P Mustajoki
Jun 1, 1986·Journal of the Royal Society of Medicine·G M MurphyS G Smith
Apr 14, 1984·Lancet·V KordaJ Holub
Sep 1, 1983·The Journal of Clinical Investigation·Y NordmannG Fontaine
Aug 1, 1981·American Journal of Clinical Pathology·S S BottomleyM Kreimer-Birnbaum
Jan 1, 1981·Human Genetics·J C DeybachY Nordmann
Apr 3, 1980·The New England Journal of Medicine·D A Brenner, J R Bloomer
Jan 1, 1980·The International Journal of Biochemistry·A V PasanenR Tenhunen

❮ Previous
Next ❯

Citations

Jan 1, 1990·Archives of Dermatological Research·K TimonenR Tenhunen
Feb 1, 1994·Annals of Medicine·R KauppinenP Mustajoki
Nov 13, 1998·Human Molecular Genetics·A G RobertsG H Elder
Jul 31, 2002·Photodermatology, Photoimmunology & Photomedicine·Shigeru Sassa
Feb 1, 1990·The British Journal of Dermatology·P G NorrisJ L Hawk
Sep 1, 1990·The British Journal of Dermatology·K TimonenJ Lauharanta
Aug 1, 1990·Australian and New Zealand Journal of Medicine·J CoakleyJ Connelly
Oct 1, 1993·Postgraduate Medical Journal·R J HiftM R Moore
Apr 5, 2001·The Journal of Investigative Dermatology·R KauppinenP Mustajoki
Sep 1, 1990·Annals of Clinical Biochemistry·G H ElderS J Smyth
Nov 25, 2004·Clinics in Liver Disease·Y V ScarlettJ R Bloomer

❮ Previous
Next ❯

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.

Related Papers

The British Journal of Dermatology
P G NorrisJ L Hawk
The British Journal of Dermatology
Kaisa TimonenJ Lauharanta
Australian and New Zealand Journal of Medicine
J CoakleyJ Connelly
South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde
I Blum, A Atsmon
© 2021 Meta ULC. All rights reserved