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Results for “KERATOSIS FOLLICULARIS”

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At least 91 records · Page 5Linked to original sources
PubMed1980

Corneal epithelial lesions in keratosis follicularis (Darier's disease).

The prevalence of eyelid keratotic plaques and unique corneal changes associated with Darier'sdisease, peripheral epithelial nebular opacities associated with irregular surface of the central corneal epithelium, are described. These corneal lesions occurred in 16 of 21 patients. The corneal lesions were asymptomatic, stable, and did not respond to oral retinoid therapy. Histopathology of the peripheral corneal opacities showed epithelial cell edema especially in the basal layer, and decreased desmosomes.

Adolescent↗
PubMed1995

Genetic linkage for Darier disease (keratosis follicularis).

Darier disease is an autosomal dominant skin disorder characterized by abnormal keratinocyte adhesion. Recent data have provided evidence for linkage of the Darier disease locus to 12q23-24.1 in British families. We have carried out linkage analysis using the 12q markers D12S58, D12S84, D12S79, D12S86, PLA2, and D12S63 in 6 Canadian families. Pairwise linkage analysis generated positive lod scores at all 6 markers at various recombination fractions, and each family showed positive lod scores with more than one marker. The peak lod score in the multipoint analysis (Zmax) was 5.5 in the interval between markers D12S58 and D12S84. These positive lod scores in North American families of varied European ancestry confirm the location of the Darier disease gene, and suggest genetic homogeneity. The future identification and sequencing of the gene responsible for Darier disease should lead to improved understanding of the disease and of keratinocyte adhesion in general.

Adolescent↗