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Results for “Photosensitivity Disorders”

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At least 523 records · Page 29Linked to original sources
PubMed2006

Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.

OBJECTIVES: Erythropoietic protoporphyria (EPP) is a genetic disorder in which deficient ferrochelatase (FECH) activity causes the excessive production and excretion of protoporphyrin. This in turn causes the major clinical manifestation of EPP, photosensitivity and, in some patients, hepatobiliary disease that may be severe. The objective of this study was to define genotypic determinants of phenotype in EPP. METHODS: FECH activity was measured in 30 tissue samples from 26 patients with symptomatic EPP to determine the degree of deficient activity. FECH DNA analysis was also done in 26 families with EPP to identify mutations and examine for the presence of a polymorphism (IVS3-48c) that causes low gene expression. RESULTS: The level of residual FECH activity that was measured in tissue samples of patients with symptomatic EPP was <or=30% of the mean normal level in all patients except one. Lowest levels (4-20% normal) were in patients with advanced EPP liver disease. Heterozygous FECH mutations were found in 45 individuals from 26 families with EPP. In 94% of the 32 symptomatic individuals, 15 of whom had liver disease, the polymorphism was present in the nonmutant allele. In 13 asymptomatic patients, the polymorphism was absent. CONCLUSIONS: Patients with symptomatic EPP (photosensitivity with/without hepatobiliary disease) usually have a mutation in 1 FECH allele that alters enzyme structure/function, together with a polymorphism in the nonmutant allele that causes low gene expression. This leads to a significant reduction in FECH activity that causes symptomatic disease to develop because of the excess protoporphyrin produced.

Adolescent↗
PubMed2000

Methotrexate and the photodermatitis reactivation reaction: a case report and review of the literature.

Methotrexate is an antimitotic and immunosuppressive agent used for the treatment of cancer, psoriasis, and rheumatologic disorders and for the termination of ectopic pregnancies. Physicians advising patients on the use of methotrexate need to be aware of its possible side effects, including photosensitivity. We present a patient who received methotrexate for the termination of an ectopic pregnancy and experienced a severe reactivation of her sunburn. The literature was reviewed on the types of photosensitivity and their relationship to methotrexate.

Abortifacient Agents, Nonsteroidal↗
PubMed2005

Chronic actinic dermatitis associated with adult T-cell leukemia.

We describe a patient with chronic actinic dermatitis that occurred with the progress of adult T-cell leukemia. Immunohistochemically, CD8 + T cells, but not CD4 + cells, predominantly infiltrated the lichenoid lesional skin, indicating that the eruption was induced by reactive, normal CD8 + T cells but not adult T-cell leukemia cells. Our patient suggests that chronic actinic dermatitis may occur in association with the advanced human T-lymphotrophic virus-I infectious disorder.

Aged↗
PubMed1977

Deafness, ichthyosiform erythroderma, corneal involvement, photophobia and dental dysplasia.

Early childhood deafness, congenital non-bullous ichthyosiform erythroderma, corneal involvement, photophobia, chronic blepharoconjunctivitis, hypotrichosis, anhidrosis, hyperkeratosis of the nails and dental dysplasia were the symptoms observed in the 19-year-old girl described in this paper. The literature comprises reports on 8 patients with this syndrome, which McKusick (1975) listed as no. 24215.

Adolescent↗