Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient

Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient

Variegate porphyria (VP) is an autosomal dominant disease caused by mutations of the protoporphyrinogen oxidase (PPOX) gene. This porphyria has unique characteristics which can induce acute neurovisceral attacks and cutaneous lesions that may occur separately or together. We herin report a 58-years-old VP patient complicated with cholelithiasis. A sequencing analysis indicated a novel c.40G>C m...

Safe use of perampanel in a carrier of variegate porphyria.

1 NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK, and Epilepsy Society, Chalfont St Peter, SL9 0RJ, UK. 2 Neuroscience Department, Polytechnic University of Marche, Ancona 60100, Italy 3 Royal Victoria Infirmary, Newcastle-Upon Tyne, UK 4 Department of Laboratory...

Molecular characterization of homozygous variegate porphyria.

Variegate porphyria (VP) is a low penetrance, autosomal dominant disorder that results from partial deficiency of protoporphyrinogen oxidase (PPOX) activity caused by mutation in the PPOX gene. The rare homozygous variant of VP is characterized by severe PPOX deficiency, onset of photosensitization by porphyrins in early childhood, skeletal abnormalities of the hand and, less constantly, short ...

Homozygous variegate porphyria: an evolving clinical syndrome.

Variegate porphyria is one of the most frequently encountered genetic conditions in South Africa. It is inherited as an autosomal dominant disease and in excess of 300 heterozygous cases have been studied by the Cape Town unit. Despite this, the homozygous condition has not previously been encountered in South Africa. We report two cases of homozygous variegate porphyria, one of whom represents...

Photosensitivity due to ampiroxicam.