Movement Disorders, 2022 Variants in genes of the nucleotide excision repair (NER) pathway have been associated with heterogeneous clinical presentations ranging from xeroderma pigmentosum to Cockayne syndrome and trichothiodystrophy.
I. Cordts +29 more
semanticscholar +1 more source
Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1 [PDF]
, 2017 The clinical and electroencephalographic features of a canine generalized myoclonic epilepsy with photosensitivity and onset in young Rhodesian Ridgeback dogs (6 wk to 18 mo) are described.
Arumilli, Meharji +21 more
core +1 more source
A case of congenital erythropoietic porphyria without hemolysis
Indian Journal of Dermatology, 2013 Porphyrias are group of disorders caused by deficiency of the enzymes in heme synthetic pathway. Congenital erythropoietic porphyria (CEP) is an extremely rare disease with mutation in the gene that codes for uroporphyrinogen III synthase leading to ...
Arun K De +3 more
doaj +1 more source
Case report: A relevant misdiagnosis: Photosensitive epilepsy mimicking a blinking tic
Frontiers in Pediatrics, 2022 Blinking in children is most frequently a functional and transient symptom. Nonetheless, sometimes it is the first clinical manifestation of a neurological disorder.
Francesca Burlo +4 more
doaj +1 more source
A mechanistic study on the phototoxicity of atorvastatin: singlet oxygen generation by a phenanthrene-like photoproduct [PDF]
, 2009 Atorvastatin calcium (ATV) is one of the most frequently prescribed drugs worldwide. Among the adverse effects observed for this lipid-lowering agent, clinical cases of cutaneous adverse reactions have been reported and associated with photosensitivity ...
IESCE, MARIA ROSARIA +4 more
core +1 more source
Phototesting and photoprotection in LE [PDF]
, 1997 Photosensitivity and induction of skin lesions following UV radiation is a common problem of patients with cutaneous and systemic forms of lupus erythematosus.
Cazenave A. +15 more
core +1 more source
Disclosure and adverse effects of complementary and alternative medicine used by hospitalized patients in the North East of England [PDF]
, 2012 Objectives: This study aimed to investigate the prevalence, disclosure and adverse effects of complementary and alternative medicine (CAM) use in hospitalised patients, and to explore the associations between patients’ perceived side-effects and relevant
Baqir, wasim +3 more
core +2 more sources
Congenital erythropoietic porphyria with undescended testis
Indian Journal of Dermatology, 2016 Hereditary porphyrias are a group of metabolic disorders of heme biosynthesis pathway that are characterized by acute neurovisceral symptoms, skin lesions, or both. Congenital erythropoietic porphyria (CEP) is an extremely rare disease with a mutation in
Sandeep Arora +2 more
doaj +1 more source
Actinic comedonal plaque-variant of Favre-Racouchot syndrome: report of two cases [PDF]
Anais Brasileiros de Dermatologia, 2015 The actinic comedonal plaque is characterized by papules, cysts and comedones forming a yellowish plaque in areas of chronic sun exposure skin. There are few reports in literature about this entity, considered a rare and ectopic form of Favré-Racouchot ...
Fernanda Cardoso +3 more
doaj +2 more sources
Porphyrias in the Age of Targeted Therapies
Diagnostics, 2021 The porphyrias are a group of eight rare genetic disorders, each caused by the deficiency of one of the enzymes in the heme biosynthetic pathway, resulting in the excess accumulation of heme precursors and porphyrins. Depending on the tissue site as well
Angelika L. Erwin, Manisha Balwani
doaj +1 more source