Clinical Heterogeneity of 1649delG Mutation in the Tail Domain of Keratin 5: A Japanese Family with Epidermolysis Bullosa Simplex with Mottled Pigmentation
Twenty-five- and 22-y-old Japanese women, who are cousins, presented with distal skin fragility, widespread small, pigmented macules, and toenail deformity. Blisters occurred between the epidermis and the dermis with degeneration of the basal cells, suggesting epidermolysis bullosa simplex with mott...
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| Veröffentlicht in: | Journal of investigative dermatology 2005-07, Vol.125 (1), p.83-85 |
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| creator | Horiguchi, Yuji Sawamura, Daisuke Mori, Ryoko Nakamura, Hideki Takahashi, Kenzo Shimizu, Hiroshi |
| description | Twenty-five- and 22-y-old Japanese women, who are cousins, presented with distal skin fragility, widespread small, pigmented macules, and toenail deformity. Blisters occurred between the epidermis and the dermis with degeneration of the basal cells, suggesting epidermolysis bullosa simplex with mottled pigmentation (EBS-MP). Electron microscopy of the pigmented spots demonstrated vacuolization of basal cells as well as disturbed junctional structures and incontinence of pigmentation. Gene analysis resulted in detection of a heterozygous deletion of a guanine nucleotide in exon 9 at position 1649. P25L mutation was not detected in either case. It is possible that EBS-MP occurs not only based on the P25L mutation of the keratin 5 molecule, but also because of other types of mutations of epidermal keratin genes. |
| doi_str_mv | 10.1111/j.0022-202X.2005.23790.x |
| format | Article |
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Blisters occurred between the epidermis and the dermis with degeneration of the basal cells, suggesting epidermolysis bullosa simplex with mottled pigmentation (EBS-MP). Electron microscopy of the pigmented spots demonstrated vacuolization of basal cells as well as disturbed junctional structures and incontinence of pigmentation. Gene analysis resulted in detection of a heterozygous deletion of a guanine nucleotide in exon 9 at position 1649. P25L mutation was not detected in either case. 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Blisters occurred between the epidermis and the dermis with degeneration of the basal cells, suggesting epidermolysis bullosa simplex with mottled pigmentation (EBS-MP). Electron microscopy of the pigmented spots demonstrated vacuolization of basal cells as well as disturbed junctional structures and incontinence of pigmentation. Gene analysis resulted in detection of a heterozygous deletion of a guanine nucleotide in exon 9 at position 1649. P25L mutation was not detected in either case. It is possible that EBS-MP occurs not only based on the P25L mutation of the keratin 5 molecule, but also because of other types of mutations of epidermal keratin genes.</description><subject>1649 del G mutation of KS</subject><subject>Adult</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Bullous diseases of the skin</subject><subject>Dermatology</subject><subject>DNA Mutational Analysis</subject><subject>Epidermolysis Bullosa Simplex - genetics</subject><subject>Epidermolysis Bullosa Simplex - pathology</subject><subject>epidermolysis bullosa simplex with mottled pigmentation</subject><subject>Female</subject><subject>Frameshift Mutation</subject><subject>Genetic Predisposition to Disease</subject><subject>Humans</subject><subject>Japan</subject><subject>Keratin-5</subject><subject>Keratins - genetics</subject><subject>Medical sciences</subject><subject>Molecular Sequence Data</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>Skin Pigmentation</subject><subject>vacuolization degeneration of basal cells</subject><issn>0022-202X</issn><issn>1523-1747</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqF0d2O1CAYBuDGaNxx9RYMMdGzqUBLC57tjvuj7kYT18QzQunXXSa0VKA6cy3erNRO3MST5YQADx8_b5YhgnOS2tttjjGla4rp95xizHJa1ALnu0fZijBarEld1o-z1T90lD0LYYsxqUrGn2ZHhAlOC1ytst8bawajlUWXEMG7WxjAxD1yHUpYtGAv0PUUVTRuQGZA8Q7QjTIWvXe9SuPkPoFPywNi79AJ-qhGNUAAdK56Y_fol4l36Gw0Lfje2X0wAZ1O1rqg0FfTjxZ2C7l2MVpo0Rdz28OwnPc8e9IpG-DFoT_Ovp2f3Wwu11efLz5sTq7WmhEc15SJsq1KXHdNVxHghFMtdIGF1oSUZV2VTUMLrgVrdcNYwTvdaF6182xNi6o4zt4sdUfvfkwQouxN0GBteombgqxqUQvK8YOQiJJSUosEX_0Ht27yQ3qEpAQXNeOUJcQXpL0LwUMnR2965feSYDnHLLdyTlDOCco5Zvk3ZrlLW18e6k9ND-39xkOuCbw-ABVSuJ1Xgzbh3lWCsZLQ5E4XB-l_fxrwMmgDg4bWeNBRts48fJs_CAnGIg</recordid><startdate>20050701</startdate><enddate>20050701</enddate><creator>Horiguchi, Yuji</creator><creator>Sawamura, Daisuke</creator><creator>Mori, Ryoko</creator><creator>Nakamura, Hideki</creator><creator>Takahashi, Kenzo</creator><creator>Shimizu, Hiroshi</creator><general>Elsevier Inc</general><general>Nature Publishing</general><general>Elsevier Limited</general><scope>6I.</scope><scope>AAFTH</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7T5</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20050701</creationdate><title>Clinical Heterogeneity of 1649delG Mutation in the Tail Domain of Keratin 5: A Japanese Family with Epidermolysis Bullosa Simplex with Mottled Pigmentation</title><author>Horiguchi, Yuji ; 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Blisters occurred between the epidermis and the dermis with degeneration of the basal cells, suggesting epidermolysis bullosa simplex with mottled pigmentation (EBS-MP). Electron microscopy of the pigmented spots demonstrated vacuolization of basal cells as well as disturbed junctional structures and incontinence of pigmentation. Gene analysis resulted in detection of a heterozygous deletion of a guanine nucleotide in exon 9 at position 1649. P25L mutation was not detected in either case. It is possible that EBS-MP occurs not only based on the P25L mutation of the keratin 5 molecule, but also because of other types of mutations of epidermal keratin genes.</abstract><cop>Danvers, MA</cop><pub>Elsevier Inc</pub><pmid>15982306</pmid><doi>10.1111/j.0022-202X.2005.23790.x</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | 1649 del G mutation of KS Adult Asian Continental Ancestry Group - genetics Base Sequence Biological and medical sciences Bullous diseases of the skin Dermatology DNA Mutational Analysis Epidermolysis Bullosa Simplex - genetics Epidermolysis Bullosa Simplex - pathology epidermolysis bullosa simplex with mottled pigmentation Female Frameshift Mutation Genetic Predisposition to Disease Humans Japan Keratin-5 Keratins - genetics Medical sciences Molecular Sequence Data Pedigree Polymerase Chain Reaction Skin Pigmentation vacuolization degeneration of basal cells |
| title | Clinical Heterogeneity of 1649delG Mutation in the Tail Domain of Keratin 5: A Japanese Family with Epidermolysis Bullosa Simplex with Mottled Pigmentation |
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