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Results for “Photosensitivity Disorders”

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PubMedDate not supplied

[Cockayne syndrome in Lebanon. Description of 3 cases and review of the literature].

Cockayne syndrome is a rare autosomal recessive progressive neurological disorder characterized by a nanism, a major cachexy, a characteristic facial appearance of premature ageing, a sun-sensitivity, a retinopathy, and a mental retardation. We report three observations of Cockayne syndrome. The diagnostic criteria, notably clinical, found in these patients are discussed in comparison to the literature.

Aging, Premature↗

PubMed1986

Brachioradial pruritus: a tropical dermopathy.

Data on 42 patients with brachioradial pruritus seen in Hawaii over a 2-year period are presented. In contrast to previous reports, the sex ratio was 1:1 with a preponderance of patients in the younger age groups. All patients had developed the disorder after having lived in Hawaii for at least one year. More than half the cases had no history of neck trauma or arthritis, ruling out a peripheral neuropathy as the cause. Radiographs of 15 patients showed changes only in the patients in the older, arthritis-age groups. Brachioradial pruritus appears to be peculiar to the tropics.

Adult↗

PubMed1990

The acute idiopathic photodermatoses.

The acute idiopathic photodermatoses are more common in females and comprise polymorphic light eruption, actinic prurigo, hydroa vacciniforme, and solar urticaria. Polymorphic light eruption occurs considerably more frequently than the others and while precise pathogenic mechanisms are still unclear, increasing evidence suggests an immunological basis for this condition. Although clinically distinct, actinic prurigo may be a variant of polymorphic light eruption, whereas solar urticaria and possibly hydroa vacciniforme are distinct entities, the former representing a type I hypersensitivity response. Polymorphic light eruption is characterized by a recurrent cutaneous reaction to ultraviolet (UV) exposure occurring after a delay of several hours that consists of pruritic erythematous papules, vesicles, or plaques on usually only some exposed sites and resolves without scarring over about a week. Actinic prurigo is differentiated from polymorphic light eruption by childhood onset and more persistent and excoriated lesions present both on sun-exposed and, to a lesser extent, non-exposed sites. Hydroa vacciniform is a rare disorder that also begins in childhood, and is characterized by recurrent crops of vesicles on sun-exposed skin and subsequent vacciniforme scarring. Solar urticaria is an uncommon condition that usually begins in the third or fourth decade and is differentiated from the other acute idiopathic photodermatoses by rapid onset of urticarial lesions within minutes of UV exposure and resolution within 1 to 2 hours.

Humans↗

PubMedDate not supplied

[Retinoids. Photodamaged skin and the prevention of nonmelanotic skin cancer].

Sun radiation produce structural and functional changes in skin structures which are known as dermatoheliosis. It becomes clinically manifest after the age of fifty when a general involution of the skin occurs. Vitamin A (retinol) is a critical factor in keratinocyte differentiation. A major progress in clarifying the control mechanism of cell growth and differentiation was the finding that the retinic acid shows hormone-like and morphogenetic effects. The retinoids, generic name for both the term including both natural products of Vitamin A as well as several thousands of synthetic products mimicking either its chemical structure or its biological effects, have proved efficient in a range of skin disorders, including dermatoheliosis. Their effectiveness comes from the overall impact on the skin structures, the ability to change the structure of the epidermis, dermis and sebaceous glands as well as the systemic effect on immunoreactivity. The prophylactic effect of retinol on various types of epithelial cancers has been well demonstrated. It has been proved lately that the association of retinoids and cytokines significantly improves the therapy efficiency in malignancy.

Animals↗

PubMed1990

Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias.

Trichothiodystrophy appears to represent a central pathologic feature of a specific hair dysplasia associated with several disorders in organs derived from ectoderm and neuroectoderm. The key finding is brittle hair with low sulfur content, but alternating dark and light bands under polarizing microscopy, trichoschisis, and absent or defective cuticle are additional important clues for the diagnosis of trichothiodystrophy. Our review of the literature revealed extensive associated findings in trichothiodystrophy. Classification of patients with trichothiodystrophy and other dysplasias is difficult because diminution of sulfur-rich protein in hair is not a sufficient marker to allow precise differentiation, although several similar ectodermal dysplasias can be excluded by demonstration of abnormal sulfur content in hair of patients with trichothiodystrophy. Patients with trichothiodystrophy should have a thorough evaluation for other associated manifestations, including investigation of photosensitivity and DNA repair defects. Detection of low-sulfur brittle hair syndrome is also important for genetic counseling because the disease appears to be inherited in an autosomal recessive pattern.

DNA Repair↗

PubMed1992

[Actinic prurigo].

Actinic prurigo is a rare idiopathic photodermatosis, which shares some features with atopic dermatitis, polymorphous light eruption, hydroa vacciniforme and persistent light reaction. It is, however, recognized as a distinct entity. Among American Indians a familial variant is observed. Characteristic features are a chronic course with sustained exacerbations, which are seasonal at first, but later perennial. The disorder may improve in adulthood. The typical clinical features are urticarial plaques a few hours after UV exposure, and a persistent eczematous, prurigo-like rash distributed over skin areas exposed to light but sometimes extending even into photoprotected areas. Therapy is extremely difficult and unrewarding. In the present paper the entity is defined and three typical cases are presented.

Adult↗

PubMed2006

Lupus erythematosus tumidus: an underestimated entity.

There have been few reports of lupus erythematosus tumidus (LET) in the literature. Most of textbooks of dermatology or dermatopathology mention this entity only briefly, if at all. The authors describe an additional case of this underdiagnosed disorder that further supports its existence as a separate entity in the spectrum of the variants of chronic cutaneous lupus erythematosus. Although most cases are reported in the European countries, to our knowledge, this is the first case documented in Portugal. The clinical, photobiological and histological features as well as differential diagnosis, treatment and prognosis are also discussed.

Dermatologic Agents↗

PubMed2004

Erythrodermic chronic actinic dermatitis responding only to topical tacrolimus.

Chronic actinic dermatitis (CAD) is a disorder characterized by an often severe persistent eczematous eruption induced by exposure to ultraviolet radiation. Treatment involves photoprotective measures and topical corticosteroid therapy and in more severe cases, systemic immunosuppression. Occasionally, however, the condition can prove very resistant to all therapy and be severely disabling. We report a patient with CAD who resisted standard topical and systemic treatments, but responded to topical tacrolimus ointment 0.1% (Protopic).

Administration, Topical↗

PubMed2001

Unraveling DNA repair in human: molecular mechanisms and consequences of repair defect.

Cellular genomes are vulnerable to an array of DNA-damaging agents, of both endogenous and environmental origin. Such damage occurs at a frequency too high to be compatible with life. As a result cell death and tissue degeneration, aging and cancer are caused. To avoid this and in order for the genome to be reproduced, these damages must be corrected efficiently by DNA repair mechanisms. Eukaryotic cells have multiple mechanisms for the repair of damaged DNA. These repair systems in humans protect the genome by repairing modified bases, DNA adducts, crosslinks and double-strand breaks. The lesions in DNA are eliminated by mechanisms such as direct reversal, base excision and nucleotide excision. The base excision repair eliminates single damaged-base residues by the action of specialized DNA glycosylases and AP endonucleases. Nucleotide excision repair excises damage within oligomers that are 25 to 32 nucleotides long. This repair utilizes many proteins to remove the major UV-induced photoproducts from DNA, as well as other types of modified nucleotides. Different DNA polymerases and ligases are utilized to complete the separate pathways. The double-strand breaks in DNA are repaired by mechanisms that involve DNA protein kinase and recombination proteins. The defect in one of the repair protein results in three rare recessive syndromes: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. This review describes the biochemistry of various repair processes and summarizes the clinical features and molecular mechanisms underlying these disorders.

Alkylation↗

PubMed1985

Photoprotection and skin coloring by oral carotenoids.

A new combination of beta-carotene (25 mg) and canthaxanthin (35 mg) was clinically investigated in 74 patients with various photodermatoses and 111 patients with pigmentation disorders. The photoprotective action of this combination was ascertained in clinical experiments. Serum levels were determined in 20 patients; the absence of increased retinol levels could be confirmed. In 23 patients, ophthalmological controls did not reveal any abnormalities. In 65 of the 74 patients with photodermatoses, a satisfactory protective action was recorded. 85 of the 111 patients with depigmentations and hyperpigmentations experienced a marked decrease of the disturbing contrast between their lesions and the surrounding skin.

Canthaxanthin↗

PubMed1996

Molecular epidemiology of skin cancers: DNA repair and non-melanocytic skin cancer.

Exposure to sunlight has been clearly associated with non-melanocytic skin cancer, however individual susceptibility differs considerably. Ethnic origin and pigmentary characteristics are generally accepted as risk factors. Another important defense mechanism is the ability to repair DNA photoproducts. In the inherited disorder xeroderma pigmentosum the inability to repair such DNA damage, associated with a high incidence of skin cancers, suggests an important role for DNA repair capacity in the etiology of this cancer. The development of an in vitro repair assay based on human peripheral blood lymphocytes, has allowed the evaluation of DNA repair capacity as a risk factor in population based studies. This article reviews recent developments in this field.

Animals↗

PubMed2004

A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family.

BACKGROUND: Variegate porphyria (VP) is an autosomal dominant disorder associated with deficient haem synthesis. Recent reports indicate that the clinical penetrance of VP may have been overestimated in studies which predated the availability of DNA-based testing for VP. OBJECTIVES: To undertake a study specifically designed to assess the clinical and biochemical penetrance of VP in a kindred characterized by gene status. METHODS: We studied a large family carrying the South African founder mutation which is known to result in almost complete haplodeficiency. All informative members were tested for the R59W mutation. Biochemical evidence of porphyria was sought by porphyrin analysis and by plasma fluorescence scanning. The presence of clinically expressed porphyria was assessed using a structured questionnaire and telephone or personal interview. RESULTS: Of 62 informative subjects, 33 had inherited the mutation. Of 28 adults, one subject had experienced a single acute attack. She and a further 10 subjects had experienced photosensitivity. The frequency of acute attacks in this family is therefore 4% (95% confidence interval, CI 1-18%), and of photosensitivity is 39.3% (95% CI 24-58%). The sensitivity and specificity of porphyrin analysis in this family were 0.46 (95% CI 0.30-0.64) and 1.00 (95% CI 0.85-1.00), respectively, and for plasma scanning the values were 0.85 (95% CI 0.58-0.96) and 1.00 (95% CI 0.72-1.00), respectively. CONCLUSIONS: The clinical penetrance of VP in our family is approximately 40%. Many more subjects with VP are diagnosed in an asymptomatic phase than previously, and the acute attack is now an uncommon manifestation of VP. Plasma scanning is more sensitive than faecal porphyrin analysis, but neither is sufficiently sensitive for the detection of carrier status.

Acute Disease↗

PubMed2006

[Acne rosacea--diagnostic challenge].

Acne rosacea is a common skin disorder which affects adults, usually women. Erythema, papules, pustules and telangiectases, the main clinical manifestations of the disease are located on the face. Currently opinions dealing with pathogenesis and clinical forms of rosacea are presented. As the clinical picture might be confusing, similar to other illnesses, differential diagnosis with other dermatoses like acne vulgaris, erysipelas, seborrhoeic and contact eczema as well as systemic diseases like lupus erythematosus, dermatomyositis, scleroderma, sarcoidosis and leukemia were discussed.

Acne Vulgaris↗

PubMed1977

[Studies on phototoxic and photoallergic effects of cream, ointment and fatty ointment of fluocortin butylester (author's transl)].

The phototoxic action of ointment and fatty ointment of butyl 6alpha-fluoro-11beta-hydroxy-16alpha-methyl-3,20-dioxo-1,4-pregnadien-21-oate (fluocortin butylester, Vaspit) was examined by means of the epicutaneous test with subsequent UV-irradiation (Kromeyer lamp with Schott filter DG 18) in 20 patients with skin disorders. Photoallergic effects of fluocotrin butylester cream, ointment and fatty ointment were tested in a modified Draize test in which 198 subjects with normal skin participated. The subjects were sensitized in 10 epicutaneous tests conducted at intervals of 24 h and followed by irradiation (1500 W xenon lamp) with 2 MED. Treatment and irradiation were then repeated after a 2-week interval. This proceding permitted additional statements an phototoxicity of the administered preparations. No positive reactions occurred in either of the tests so that phototoxic effects can be excluded and a photoallergic potential is improbable.

Adolescent↗

PubMed1996

[Cutaneous pigmentation, only manifestation of porphyria cutanea tarda in a HIV-1 positive patient].

INTRODUCTION: Porphyria cutanea tarda (PCT) is an unfrequent disorder in patients with acquired immunodeficiency syndrome (AIDS) due to deficiency in uroporphyrinogen decarboxilase. The more frequent cutaneous manifestations are skin fragility and hypertrichosis. CASE REPORT: A 44-years-old man with AIDS presented an intense cutaneous hyperpigmentation, preferently involving sun-exposed areas. Histopathologic studies showed perivascular PAS-positive deposits. Biochemical studies confirmed the diagnosis of PCT. DISCUSSION: PCT should be included in the differential diagnosis of cutaneous hyperpigmentation in patients infected by human immunodeficiency virus (HIV).

Adult↗

PubMed1997

[DNA lesions: mechanisms of recognition and repair].

Numerous structural lesions or disorders accumulate in DNA either spontaneously or following genotoxic stresses. Living cells have developed various strategies to eliminate most of these lesions so as to preserve a life-compatible genetic information. Several human diseases are associated to some DNA-repair processes. Analysis of cells derived from these patients has allowed the isolation of repair genes and the molecular analysis of lesions proofreading mechanisms. Most of these diseases are extremely severe, pointing out to the biological extent of repair systems, and are associated to genetic instability which frequently lead to high cancer proneness.

Cockayne Syndrome↗

PubMed2002

An exon 10 deletion in the mouse ferrochelatase gene has a dominant-negative effect and causes mild protoporphyria.

Protoporphyria is generally inherited as an autosomal dominant disorder. The enzymatic defect of protoporphyria is a deficiency in ferrochelatase, which chelates iron and protoporphyrin IX to form heme. Patients with protoporphyria have decreased ferrochelatase activities that range from 5% to 30% of normal caused by heterogeneous mutations in the ferrochelatase gene. The molecular mechanism by which the ferrochelatase activity is decreased to less than an expected 50% is unresolved. In this study, we assessed the effect of a ferrochelatase exon 10 deletion, a common mutation in human protoporphyria, introduced into the mouse by gene targeting. F1 crosses produced (+/+), (+/-), and (-/-) mice at a ratio of 1:2:0; (-/-) embryos were detected at 3.5 days postcoitus, consistent with embryonic lethality for the homozygous mutant genotype. Heterozygotes demonstrated equivalent levels of wild-type and mutant ferrochelatase messenger RNAs and 2 immunoreactive proteins that corresponded to the full-length and an exon 10-deleted ferrochelatase protein. Ferrochelatase activities in the heterozygotes were an average of 37% of normal, and protoporphyrin levels were elevated in erythrocytes and bile. Heterozygous mice exhibited skin photosensitivity but no liver disease. These results lend support for a dominant-negative effect of a mutant allele on ferrochelatase activity in patients with protoporphyria.

Alleles↗

PubMed1990

Poly(ADP-ribose)-synthesis and excision repair in light sensitive skin disorders.

Several data suggest a relationship of poly(ADP-ribose) (PAR) synthesis to DNA repair and the influence of some trace elements on the semiconservative and unscheduled DNA synthesis (UDS). Previously we found certain alterations in the UV-light induced UDS and in the contents of trace elements in the lymphocytes of patients with light sensitive skin disorders. In the recent study in polymorphic light eruption, cutaneous porphyrias and xeroderma pigmentosum the PAR synthesis and zinc, copper and manganese contents in the chromatin of the lymphocytes (measured by neutron activation analysis) were investigated. UV induced PAR synthesis was generally lower in the cells of polymorphic light eruption and especially in xeroderma pigmentosum with a reduced repair capacity whereas in cutaneous porphyrias no difference was observed. Some correlations occurred between the contents of trace elements studied and UDS as well in each group tested. It seems that PAR investigations throw new light upon our understanding of the pathomechanism of photodermatoses.

DNA Damage↗