Background: Punctate palmoplantar keratoderma (PPK) is a rare autosomal dominant cutaneous disorder characterized by numerous hyperkeratotic papules distributed on the palms and soles. Two loci for punctate PPK were r...Background: Punctate palmoplantar keratoderma (PPK) is a rare autosomal dominant cutaneous disorder characterized by numerous hyperkeratotic papules distributed on the palms and soles. Two loci for punctate PPK were recently found to be located on 8q24.13- 8q24.21 and 15q22- 15q24. However, no genes for this disease have been identified to date. Objectives: To refine the previously mapped regions and to identify the disease gene locus in a four- generation Chinese family with punctate PPK. Methods: Genetic linkage analysis was carried out in this family using microsatellite markers on chromosomes 8q and 15q. Two- point linkage analysis was performed using Linkage programs version 5.10 and the haplotype was constructed using Cyrillic version 2.02 software. Results: We failed to confirm our previous locus at 8q24.13- 8q24.21, but significant evidence for linkage was observed in the region of 15q with a maximum two- point LOD score of 5.38 at D15S153 (θ .=0.00). Haplotype analysis localized the punctate PPK locus within the region defined by D15S651 and D15S988. This region overlaps by 5.06 cM with the previously reported punctate PPK region. Conclusions: This study refines a disease gene causing punctate PPK to a 5- 06- cM interval at 15q22.215q22.31.展开更多
We describe a Dutch man suffering from a previously undescribed erythrokeratoderma associated with palmoplantar keratoderma and circular constrictions of the fingers. No mutations were identified in the genes encoding...We describe a Dutch man suffering from a previously undescribed erythrokeratoderma associated with palmoplantar keratoderma and circular constrictions of the fingers. No mutations were identified in the genes encoding loricrin, connexin 26, 30, 30.3, 31 and 31.1, and ARS/complex B. There are some similarities between the disorder described here and other palmoplantar keratodermas and erythrokeratodermas, but assignment to a particular disease category is not possible. Hence wepropose that we have delineated a novel type of keratoderma.展开更多
Olmsted综合征又称为先天性掌跖和腔口周围角皮病（congenital palmoplantar and periorificial keratoderrna）,是一种少见的以残毁性掌跖角皮病和腔口周围斑块为特征的皮肤病,女性患者较男性少,合并感染等并发症者更少.现报道1例12岁...Olmsted综合征又称为先天性掌跖和腔口周围角皮病（congenital palmoplantar and periorificial keratoderrna）,是一种少见的以残毁性掌跖角皮病和腔口周围斑块为特征的皮肤病,女性患者较男性少,合并感染等并发症者更少.现报道1例12岁女性Olmsted综合征伴随进行性踝、膝、肘和髋关节处大面积皮肤角化和几乎遍及全身的边界清楚的多形性红斑,后合并单纯疱疹病毒性脑炎.展开更多
文摘Background: Punctate palmoplantar keratoderma (PPK) is a rare autosomal dominant cutaneous disorder characterized by numerous hyperkeratotic papules distributed on the palms and soles. Two loci for punctate PPK were recently found to be located on 8q24.13- 8q24.21 and 15q22- 15q24. However, no genes for this disease have been identified to date. Objectives: To refine the previously mapped regions and to identify the disease gene locus in a four- generation Chinese family with punctate PPK. Methods: Genetic linkage analysis was carried out in this family using microsatellite markers on chromosomes 8q and 15q. Two- point linkage analysis was performed using Linkage programs version 5.10 and the haplotype was constructed using Cyrillic version 2.02 software. Results: We failed to confirm our previous locus at 8q24.13- 8q24.21, but significant evidence for linkage was observed in the region of 15q with a maximum two- point LOD score of 5.38 at D15S153 (θ .=0.00). Haplotype analysis localized the punctate PPK locus within the region defined by D15S651 and D15S988. This region overlaps by 5.06 cM with the previously reported punctate PPK region. Conclusions: This study refines a disease gene causing punctate PPK to a 5- 06- cM interval at 15q22.215q22.31.
文摘We describe a Dutch man suffering from a previously undescribed erythrokeratoderma associated with palmoplantar keratoderma and circular constrictions of the fingers. No mutations were identified in the genes encoding loricrin, connexin 26, 30, 30.3, 31 and 31.1, and ARS/complex B. There are some similarities between the disorder described here and other palmoplantar keratodermas and erythrokeratodermas, but assignment to a particular disease category is not possible. Hence wepropose that we have delineated a novel type of keratoderma.
文摘Olmsted综合征又称为先天性掌跖和腔口周围角皮病（congenital palmoplantar and periorificial keratoderrna）,是一种少见的以残毁性掌跖角皮病和腔口周围斑块为特征的皮肤病,女性患者较男性少,合并感染等并发症者更少.现报道1例12岁女性Olmsted综合征伴随进行性踝、膝、肘和髋关节处大面积皮肤角化和几乎遍及全身的边界清楚的多形性红斑,后合并单纯疱疹病毒性脑炎.
