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Results for “Photosensitivity Disorders”

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At least 415 records · Page 23Linked to original sources
PubMed2006

Kindler syndrome: a new mutation and new diagnostic possibilities.

BACKGROUND: Kindler syndrome (KS) is a rare genetic disorder that is characterized by blistering in infancy, followed by the onset of poikiloderma and photosensitivity in childhood. The recently elucidated molecular pathogenesis involves mutations in KIND1, a gene encoding the protein kindlin-1, which is involved in the attachment of the actin cytoskeleton to the extracellular matrix in basal keratinocytes. OBSERVATIONS: We describe a child with the neonatal diagnosis of epidermolysis bullosa simplex who developed poikiloderma and skin fragility at 6 years of age. His skin showed diminished staining with anti-kindlin-1 antibody, and genetic analysis revealed that he was a compound heterozygote with a previously unreported mutation in KIND1. Ultrastructural clues to the diagnosis of KS were present in a biopsy specimen that was obtained when the patient was 10 months old, before he developed poikiloderma and photosensitivity. CONCLUSIONS: In this case, a combination of a known mutation (R271X) and a newly described mutation (1755delT) in the KIND1 gene produced loss of function in kindlin-1, leading to the clinical features of KS. Ultrastructural findings characteristic of KS were evident years before the onset of poikiloderma and sun sensitivity. In infancy, electron microscopy can enable early, accurate diagnosis of KS.

Child↗
PubMed1991

Prenatal diagnosis of PIBIDS.

In a well-documented PIBIDS family, two investigations of DNA excision repair showed a severe defect in lymphocytes from the index case (residual repair activities were 10.6-12.1 per cent). The values for the mother, father, and sister were within the normal range when compared with a healthy control. In the pregnant mother, a prenatal diagnosis of PIBIDS was made by measuring UV-induced unscheduled DNA synthesis in cultivated amniotic fluid cells. Results ranged between 12.5 and 26.1 per cent depending on the UV doses applied and were consistent with an affected fetus. The parents opted for a termination of pregnancy. Following a therapeutic abortion, fetal skin fibroblasts were tested and showed a severe DNA excision-repair defect of 9.2-13.5 per cent of residual activity.

Adolescent↗
PubMed1972

[Bloom's syndrome].

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Abnormalities, Multiple↗
PubMedDate not supplied

Albinism.

Albinism is the term applied to a heterogeneous group of genetically determined disorders characterized by hypopigmentation and affecting the eyes. After describing the clinical features of albinism in general, the authors discuss the various forms of oculocutaneous albinism, ocular albinism, and albinoidism that are of interest to the ophthalmologist. Emphasis is placed on the ocular features of each form. The visual pathway abnormalities and the clinical management of albinism are discussed.

Albinism↗
PubMed1989

Effect of chronic lithium on sensitivity to light in male and female bipolar patients.

1. Sensitivity to white light was quantified in euthymic bipolar male and female patients maintained on long term lithium therapy and age and sex matched unmedicated controls. 2. The Dark Adaptation Threshold procedure was used to assess sensitivity of both the cone and rod photoreceptors to short pulses of light. 3. Male and female controls did not differ in sensitivity to light. 4. Male patients in comparison to both controls and female patients evidenced reduced sensitivity to light during the cone and rod portion of the dark adaptation procedure. 5. Female patients did not differ from controls on sensitivity to light. 6. Using these and other published data the results were interpreted as suggesting that lithium reduces sensitivity to light during adaptation to dark.

Adaptation, Ocular↗
PubMed1963

Comparative study of lethal photosensitization of Sarcina lutea by 8-methoxypsoralen and by toluidine blue.

Mathews, Micheline M. (Department of Bacteriology, University of California, Berkeley). Comparative study of lethal photosensitization of Sarcina lutea by 8-methoxypsoralen and by toluidine blue. J. Bacteriol. 85:322-328. 1963.-A comparative study has been made of the photo-killing of Sarcina lutea by 8-methoxypsoralen (8-MOP) and by toluidine blue. It has been found that photosensitization by 8-MOP differs from photosensitization by toluidine blue, in that it has a temperature coefficient of less than one, and that the presence of oxygen is not necessary for, and even is deleterious to, the photosensitization, the psoralen being destroyed by its presence. It has previously been shown that the presence of carotenoid pigments protects the cells of S. lutea from lethal photosensitization by toluidine blue; it was found that the presence of these pigments has no protective effect in photosensitization with 8-MOP. Studies on the lethal photosensitization of S. lutea with toluidine blue suggested that the primary sensitive site of the photokilling was the protein of the cell membrane, as manifested by the destruction of membrane enzyme activity and the regulation of permeability. It has been found that photokilling by 8-MOP has no effect on these functions. A study was made on the effect of photokilling by 8-MOP on the production of penicillin-resistant mutants as an indication of an alteration in the cellular deoxyribonucleic acid (DNA) by the psoralen. Psoralen photosensitization resulted in the development of many penicillin-resistant mutants. On the basis of the findings reported in this paper, it is suggested that photosensitization of S. lutea by 8-MOP does not reflect damage to cellular protein, as does toluidine blue, but rather damage to cellular DNA.

Cell Membrane↗