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Hereditary polymorphic light eruption (HPLE) Research
Research articles regarding treatment and characteristics of
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The heritability of polymorphic light eruption.
J Invest Dermatol. 2000 Sep;115(3):467-70.Millard TP, Bataille V, Snieder H, Spector TD, McGregor JM.
St John's Institute of Dermatology, London, U.K. thomas.millard@kcl.ac.uk
Polymorphic light eruption is classified as an acquired idiopathic photodermatosis, yet it appears to cluster in families, suggesting a possible genetic component. In this study, we assess the heritability of polymorphic light eruption using the classical twin model. Polymorphic light eruption was investigated by a nurse-administered questionnaire in a sample of 420 pairs of adult female twins from St Thomas' Hospital UK Adult Twin Registry, including 119 monozygotic and 301 dizygotic pairs. Probandwise concordance for the presence and absence of disease was calculated and the heritability of polymorphic light eruption assessed by a quantitative genetic model fitting approach using Mx software. The prevalence of polymorphic light eruption was 21% and 18% in monozygotic and dizygotic twins, respectively. A family history of polymorphic light eruption in first-degree relatives (not including the cotwin) was present in 12% of affected twin pairs (where at least one twin had polymorphic light eruption) compared with 4% of unaffected twin pairs, providing evidence of familial clustering (p < 0.0001). The probandwise concordance for polymorphic light eruption was higher in monozygotic (0.72) than in dizygotic twin pairs (0.30), indicating a strong genetic effect. Quantitative genetic modeling found that a model comprising additive genetic (A) and unique environmental (E) factors provided the most parsimonious fit, although a dominant gene effect could also explain our data. In the AE model, 84% (95% confidence interval 65-94%) of the variance in susceptibility to polymorphic light eruption is attributed to additive genetic factors with the remaining 16% (95% confidence interval 6-35%) to unique environmental effects. These data establish a clear genetic influence in the expression of polymorphic light eruption and provide a basis for examining candidate genes that may be pathogenic in this common condition.
PMID: 10951285 PubMed
Hereditary polymorphic light eruption of American Indians: occurrence in non-Indians with polymorphic light eruption.
Fusaro RM, Johnson JA., J Am Acad Dermatol. 1996 Apr;34(4):612-7.
Department of Internal Medicine/Dermatology, University of Nebraska Medical Center, Omaha, 68198-4360, USA.
BACKGROUND: Hereditary polymorphic light eruption (HPLE) occurs uniquely in the American Indian and Inuit and exhibits autosomal dominant transmission. Because the cutaneous expression of HPLE resembles that of polymorphic light eruption (PLE) and because many non-Indians in the United States have American Indian heritage, some instances of PLE may actually be HPLE. OBJECTIVE: Our purpose was to determine whether non-Indian patients with PLE have characteristics suggestive of HPLE. METHODS: We surveyed in Nebraska 25 European-Caucasian and 36 African-American patients with PLE for American Indian heritage and photosensitive relatives. Nonphotosensitive subjects (52 Caucasians and 40 African Americans) were surveyed for American Indian heritage. RESULTS: American Indian heritage occurred in 11 Caucasian patients (44%); of those, seven (64%) had photosensitive relatives. Likewise, 29 African Americans (81%) had American Indian heritage; 19 (66%) of those had photosensitive relatives. American Indian heritage occurred in 10 Caucasian control subjects (19%) and in 34 African-American control subjects (85%). CONCLUSION: If American Indian heritage and a family history of photosensitivity are definitive for HPLE, seven (28%) of our Caucasian patients and 19 (53%) of our African-American patients have HPLE rather than PLE. We urge physicians who suspect PLE in non-Indians to ask about American Indian heritage and photosensitive relatives and to screen their present patients with PLE for such characteristics.
PMID: 8601650
Hereditary polymorphic light eruption in Canadian Inuit.
Orr PH, Birt AR., Int J Dermatol. 1984 Sep;23(7):472-5.
Twelve Canadian Inuit patients from the Keewatin District of the Northwest Territories were found to have hereditary polymorphic light eruption. The clinical manifestations were similar to those described in the North American Indian, with a photodermatitis occurring in the sunlight-exposed area. The onset occurred prior to the age of 15 years in 70% of subjects, and the condition was seasonally recurrent, starting in February and lasting until September. Patients demonstrated improvement on a combined regime of local therapy and oral trioxalen. Seventy-five percent of patients had a family history of photosensitivity, suggesting an autosomal dominant trait with incomplete penetrance. Indian ancestry was not demonstrated in these patients.
PMID: 6490292
Hereditary polymorphic light eruption in American Indians. Photoprotection and prevention of streptococcal pyoderma and glomerulonephritis.
Fusaro RM, Johnson JA., JAMA. 1980 Sep 26;244(13):1456-9.
Hereditary polymorphic light eruption (HPLE) occurs in Indians of North and South America. Affected persons are sensitive to long ultraviolet radiation and therefore receive no substantial benefit from conventional sunscreens. We have treated 46 patients with HPLE at the Red Lake Reservation, Minn, with topically administered dihydroxyacetone and lawsone, orally given beta carotene, or both. Oral beta carotene afforded adequate photoprotection to 33 patients, and four additional patients were protected with the combined use of oral and topical agents. Epidemiologic studies support our proposals that HPLE is a causative factor in streptococcal pyoderma in the American Indian and may be associated with epidemics of streptococcal glomerulonephritis.
PMID: 7420635 PubMed
The actinic cheilitis of hereditary polymorphic light eruption.
Birt AR, Hogg GR., Arch Dermatol. 1979 Jun;115(6):699-702.
Sixty-four North American Indians with hereditary polymorphic light eruption (HPLE), or a family history of HPLE, had chronic, recurrent, exudative, and exfoliative cheilitis. Fifty-two had the cheilitis by the age of 10 years. Microscopically, the epithelium was either thickened, or thinned and covered by a thick crust. The dermis had a dense infiltration of inflammatory cells, mostly lymphocytes and plasma cells. The condition was not premalignant. The HPLE has to be differentiated from the chronic actinic cheilitis caused by long exposure to sunlight with out any element of hypersensitivity. The latter is potentially premalignant. Chronic recurrent actinic cheilitis associated with hereditary polymorphic light eruption appears to be a specific characteristic of photosensitivity occurring in American Indians. Plasma cell infiltration is not specific for either type of cheilitis.
PMID: 453870
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