PubMed HealthSearch

Biomedical subjects

A R Birt

Publications and source records attributed to A R Birt.

10 recordsLinked to original sources

Hereditary polymorphic light eruption in Canadian Inuit.

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.

Adolescent

The actinic cheilitis of hereditary polymorphic light eruption.

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.

Adolescent

Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons.

In a sibship of nine, six members had hereditary medullary carcinoma of the thyroid. Two of those with thyroid neoplasms and two without had numerous small papular skin lesions. These proved to be a type of pilar tumor that we named fibrofolliculoma. Further investigation of the total kindred of 70 showed no other evidence of thyroid neoplasm. Skin tumors only appeared after the age of 25 years. Fifteen of 37 members older than the age of 25 years exhibited the typical skin lesions. Obviously, the original sibship was the repository of two dominantly inherited traits. The fibrofolliculoma is characterized by abnormal hair follicles with epithelial strands extending out from the infundibulum of the hair follicle into a hyperplastic mantle of specialized firbrous tissue. Associated skin lesions in this kindred were trichodiscomas and acrochordons.

Adult