The Experts below are selected from a list of 270 Experts worldwide ranked by ideXlab platform
Akira Kawada - One of the best experts on this subject based on the ideXlab platform.
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dermoscopic features in disseminated superficial Actinic Porokeratosis
European Journal of Dermatology, 2011Co-Authors: Naoki Oiso, Akira KawadaAbstract:ejd.2011.1337 Auteur(s) : Naoki Oiso naoiso@med.kindai.ac.jp, Akira Kawada Department of Dermatology, Kinki University Faculty of Medicine, 377-2 Ohno-Higashi, Osaka-Sayama 589-8511, Japan Disseminated superficial Actinic Porokeratosis (DSAP) appears on sun-exposed areas and may be exacerbated by ultraviolet light [1, 2]. DSAP sequentially changes in appearance from a circular to a polycyclic outline. The dermoscopic feature of DSAP in Caucasians is characterized by a white track structure corresponding [...]
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Disseminated superficial Actinic Porokeratosis in a patient undergoing treatment with long-term narrowband ultraviolet B for psoriasis.
The Journal of dermatology, 2010Co-Authors: Shigeru Kawara, Naoki Oiso, Akira KawadaAbstract:Disseminated superficial Actinic Porokeratosis (DSAP) is a subtype of Porokeratosis, thought to be clonal disorder of keratinization. Chronic exposure to ultraviolet (UV) light might be an etiological cause of DSAP, of which frequent sites are sun-exposed areas. We report a case of DSAP that occurred on the trunk of a 79-year-old man with psoriasis treated with narrowband ultraviolet B (NB-UVB) for clearing and maintenance therapies. DSAP has been reported to associate with psoralen and ultraviolet A therapy and broadband UVB, but not NB-UVB. This may be the first case of DSAP after repeated exposure to NB-UVB.
Zheng-hua Zhang - One of the best experts on this subject based on the ideXlab platform.
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a novel locus for disseminated superficial Actinic Porokeratosis maps to chromosome 16q24 1 24 3
Human Genetics, 2011Co-Authors: Jing Luan, Zheng-hua Zhang, Zhen-min Niu, Jing Zhang, Xun Chu, Meredith E Crosby, Zhimin Wang, Wei Huang, Leihong XiangAbstract:Disseminated superficial Actinic Porokeratosis (DSAP) is an uncommon autosomal dominant keratinization disorder with genetic heterogeneity characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. Thus far, there have been three susceptible loci determined for DSAP and one locus for disseminated superficial Porokeratosis (DSP), i.e. 12q23.2-24.1, 15q25.1-26.1, 1p31.3-p31.1 and 18p11.3. Moreover, the locus for Porokeratosis palmaris plantaris et disseminata (PPPD) was mapped to 12q24.1-24.2, which overlapped with the first DSAP locus. Following the exclusion of these known loci in a four-generation Chinese DSAP family, we performed a genome-wide linkage analysis and identified a new locus on chromosome 16q24.1-24.3. The maximum two-point LOD score of 3.73 was obtained with the marker D16S3074 at a recombination fraction θ of 0.00. Haplotype analysis defined the critical 17.4-cM region for DSAP between D16S3091 and D16S413. This is regarded to be the forth locus for DSAP (DSAP4). ATP2C1 was sequenced as a candidate gene, however, no mutation was found. Further investigation for the genetic basis of DSAP is under way.
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two closely linked variations in actin cytoskeleton pathway in a chinese pedigree with disseminated superficial Actinic Porokeratosis
Journal of The American Academy of Dermatology, 2005Co-Authors: Zheng-hua Zhang, Zhen-min Niu, Jingjun Zhao, Weida Liu, Wentao Yuan, L H Xiang, Fa-xing Jiang, Bao Chai, Wei Huang, Jing ZhangAbstract:Background Disseminated superficial Actinic Porokeratosis (DSAP) is an uncommon autosomal dominant chronic keratinization disorder, characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. Recently, SSH1 was identified as the DSAP candidate gene. Objective Our purpose was to determine the locus of DSAP and identify the candidate gene(s) of the disease. Methods Genome-wide scanning and linkage analysis were performed in a 6-generation Chinese family with DSAP. The coding exons and promoter region of the candidate genes were screened for the nucleotide variations. Results A missense mutation (p.Ser63Asn) in SSH1 and a variation (dbSNP3759383: G>A) in the promoter region of ARPC3 were closely linked with DSAP in the pedigree. Conclusion Both SSH1 and ARPC3 are involved in the actin cytoskeleton pathway and interacted with adherent junctions in the epidermal cells. We suggested that cytoskeleton disorganization in epidermal cells was likely associated with the pathogenesis of DSAP.
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a mutation in sart3 gene in a chinese pedigree with disseminated superficial Actinic Porokeratosis
British Journal of Dermatology, 2005Co-Authors: Zheng-hua Zhang, Zhen-min Niu, Jingjun Zhao, Wentao Yuan, Jing Zhang, Fa-xing Jiang, Bao Chai, Fan Cui, W ChenAbstract:Summary Background Disseminated superficial Actinic Porokeratosis (DSAP) is an uncommon autosomal dominant chronic disorder of keratinization, characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. Thus far, although two loci for DSAP have been identified, and the genetic basis and pathogenesis of this disorder have not been elucidated. Objectives To determine the locus of DSAP and identify the candidate gene(s) of the disease. Methods Genome-wide scan and linkage analysis were performed in a six-generation Chinese family with DSAP. The coding exons of the candidate genes were sequenced to analyse and detect the nucleotide variations. Results Linkage analysis showed that the maximum two-point lod score of 5·56 was obtained with the marker D12S79 at a recombination fraction θ of 0·00. Haplotype analysis defined the critical region for DSAP between D12S330 and D12S1612 on 12q24.1–24.2. By sequence analysis, we found a Val591Met mutation in SART3 in all affected individuals of the family. Conclusion SART3 is a candidate gene for DSAP, and is possibly involved in the pathogenesis of DSAP.
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fine mapping and identification of a candidate gene ssh1 in disseminated superficial Actinic Porokeratosis
Human Mutation, 2004Co-Authors: Zheng-hua Zhang, Zhen-min Niu, Weida Liu, Wentao Yuan, L H Xiang, Jing Zhang, Xun Chu, Jingjun ZhaoAbstract:Disseminated superficial Actinic Porokeratosis (DSAP) is an uncommon autosomal dominant chronic keratinization disorder, characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. Thus far, although two loci for DSAP have been identified, the genetic basis and pathogenesis of this disorder have not been elucidated yet. In this study, we performed a genome-wide linkage analysis in three Chinese affected families and localized the gene in an 8.0 cM interval defined by D12S330 and D12S354 on chromosome 12. Upon screening 30 candidate genes, we identified a missense mutation, p.Ser63Asn in SSH1 in one family, a frameshift mutation, p.Ser19CysfsX24 in an alternative variant (isoform f) of SSH1 in another family, and a frameshift mutation, p.Pro27ProfsX54 in the same alternative variant in one non-familial case with DSAP. SSH1 encodes a phosphatase that plays a pivotal role in actin dynamics. Our data suggested that cytoskeleton disorganization in epidermal cells is likely associated with the pathogenesis of DSAP. © 2004 Wiley-Liss, Inc.
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Fine mapping and identification of a candidate gene SSH1 in disseminated superficial Actinic Porokeratosis
Human mutation, 2004Co-Authors: Zheng-hua Zhang, Zhen-min Niu, Jingjun Zhao, Weida Liu, Wentao Yuan, L H Xiang, Jing Zhang, Xun Chu, Fa-xing Jiang, Bao ChaiAbstract:Disseminated superficial Actinic Porokeratosis (DSAP) is an uncommon autosomal dominant chronic keratinization disorder, characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. Thus far, although two loci for DSAP have been identified, the genetic basis and pathogenesis of this disorder have not been elucidated yet. In this study, we performed a genome-wide linkage analysis in three Chinese affected families and localized the gene in an 8.0 cM interval defined by D12S330 and D12S354 on chromosome 12. Upon screening 30 candidate genes, we identified a missense mutation, p.Ser63Asn in SSH1 in one family, a frameshift mutation, p.Ser19CysfsX24 in an alternative variant (isoform f) of SSH1 in another family, and a frameshift mutation, p.Pro27ProfsX54 in the same alternative variant in one non-familial case with DSAP. SSH1 encodes a phosphatase that plays a pivotal role in actin dynamics. Our data suggested that cytoskeleton disorganization in epidermal cells is likely associated with the pathogenesis of DSAP.
Nilceo Michalany - One of the best experts on this subject based on the ideXlab platform.
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The use of fluor-hydroxy pulse peel in Actinic Porokeratosis.
Dermatologic Surgery, 2006Co-Authors: Solange P Teixeira, Maurício M De Nascimento, Ediléia Bagatin, Karime M Hassun, Sérgio Talarico, Nilceo MichalanyAbstract:Background. The use of Fluor-Hydroxy pulse peel (Drogaderma, Sao Paulo, Brazil) was reported by Katz to treat solar damage and Actinic keratosis–associated lesions.1,2 Objective. The objective was to use this combined treatment to produce therapeutic and cosmetic benefits in a patient with Actinic Porokeratosis. Methods. A case of Actinic disseminated Porokeratosis was treated with a combination of a 70% glycolic peel and a 5% 5-fluorouracil solution (Drogaderma) every 2 weeks for 4 months. A biopsy was done before and after eight treatment pulses. Results. Improvement in the appearance and texture of the treated areas and decreased dyskeratosis and epidermal atypia. Conclusion. The Fluor-Hydroxy pulse peel can be an effective alternative for the treatment of Actinic Porokeratosis.
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The use of fluor-hydroxy pulse peel in Actinic Porokeratosis.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.], 2005Co-Authors: Solange P Teixeira, Maurício M De Nascimento, Ediléia Bagatin, Karime M Hassun, Sérgio Talarico, Nilceo MichalanyAbstract:The use of Fluor-Hydroxy pulse peel (Drogaderma, Sao Paulo, Brazil) was reported by Katz to treat solar damage and Actinic keratosis-associated lesions. The objective was to use this combined treatment to produce therapeutic and cosmetic benefits in a patient with Actinic Porokeratosis. A case of Actinic disseminated Porokeratosis was treated with a combination of a 70% glycolic peel and a 5% 5-fluorouracil solution (Drogaderma) every 2 weeks for 4 months. A biopsy was done before and after eight treatment pulses. Improvement in the appearance and texture of the treated areas and decreased dyskeratosis and epidermal atypia. The Fluor-Hydroxy pulse peel can be an effective alternative for the treatment of Actinic Porokeratosis.
Rudolf Happle - One of the best experts on this subject based on the ideXlab platform.
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A case of linear Porokeratosis superimposed on disseminated superficial Actinic Porokeratosis.
Case reports in dermatology, 2010Co-Authors: Rebecca Löhrer, Rudolf Happle, Aysegül Neumann-acikel, Rüdiger Eming, Karin Hartmann, Heinrich Rasokat, Thomas Krieg, Sabine A. EmingAbstract:We present a female patient with linear Porokeratosis of her right arm since childhood. At the age of 67 years she additionally developed disseminated superficial Actinic Porokeratosis (DSAP) involving both lower legs. This uncommon coexistence of two different types of Porokeratosis fulfils the clinical criteria of a type 2 segmental manifestation of an autosomal dominant skin disorder, being superimposed on the ordinary nonsegmental lesions and reflecting loss of heterozygosity that occurred at an early developmental stage. In DSAP molecular evidence of this concept is so far lacking, but such proof has already been provided in several other autosomal dominant skin disorders. Molecular analysis of cases of type 2 segmental involvement may help elucidate the genetic defect causing DSAP.
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Linear Porokeratosis superimposed on disseminated superficial Actinic Porokeratosis: Report of two cases exemplifying the concept of type 1 segmental manifestation of autosomal dominant skin disorders
Journal of the American Academy of Dermatology, 1999Co-Authors: Pia Freyschmidt-paul, Rolf Hoffman, Arne König, Rudolf HappleAbstract:A concept of dichotomous types of segmental involvement of autosomal dominant skin disorders has recently been proposed. Among the different types of Porokeratosis, disseminated superficial Actinic Porokeratosis is known to be an autosomal dominant skin disorder, and linear Porokeratosis represents the segmental form of the disease. We intended to exemplify the type 2 segmental manifestation within this concept. Clinical and histopathologic aspects of porokeratotic lesions of 2 patients were investigated. The family history was studied in both cases. Linear Porokeratosis superimposed on disseminated superficial Actinic Porokeratosis was observed in both patients. These 2 cases of linear Porokeratosis associated with disseminated superficial Actinic Porokeratosis can be taken as further examples of a type 2 segmental involvement occuring in an autosomal dominant skin disorder.
Seiji Kawana - One of the best experts on this subject based on the ideXlab platform.
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Type 2 segmental manifestation of disseminated superficial Actinic Porokeratosis in a 7-year-old girl
European journal of dermatology : EJD, 2008Co-Authors: Yayoi Niimi, Seiji KawanaAbstract:We report here a rare case of Porokeratosis in which two different clinical types of Porokeratosis (linear Porokeratosis and disseminated superficial Actinic Porokeratosis) coexisted. A 7-year-old girl developed a centrifugal lesion on her left abdomen at the age of 2, disseminated superficial Actinic Porokeratosis on her face at the age of 3 after ultraviolet exposure, and linear Porokeratosis on her left body at the age of 5. Histological findings corresponded with cornoid lamella. She was treated with topical maxacalcitol ointment and cryotherapy with considerable improvement. The combination of different types of Porokeratosis in one individual is rare. We consider that this case may represent a type 2 segmental manifestation of disseminated superficial Actinic Porokeratosis.
