A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN
A 54-year-old Japanese woman had repetitive superficial skin peeling and ensuing erythematous changes in the sites since infancy. Her parents had a consanguineous marriage, and she was the only individual affected in her family tree. The erythematous changes seemed to worsen in the summer. Histologi...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Karger Publishers
2014-10-01
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| Series: | Case Reports in Dermatology |
| Subjects: | |
| Online Access: | http://www.karger.com/Article/FullText/368823 |
| _version_ | 1828761037955923968 |
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| author | Hiroshi Kawakami Masaki Uchiyama Tatsuo Maeda Takahiko Tsunoda Yoshihiko Mitsuhashi Ryoji Tsuboi |
| author_facet | Hiroshi Kawakami Masaki Uchiyama Tatsuo Maeda Takahiko Tsunoda Yoshihiko Mitsuhashi Ryoji Tsuboi |
| author_sort | Hiroshi Kawakami |
| collection | DOAJ |
| description | A 54-year-old Japanese woman had repetitive superficial skin peeling and ensuing erythematous changes in the sites since infancy. Her parents had a consanguineous marriage, and she was the only individual affected in her family tree. The erythematous changes seemed to worsen in the summer. Histologically, hyperkeratosis and splitting of the epidermis within the stratum corneum was noted, and electron microscopy revealed shedding of corneal cells in the horny layer and normal-looking corneodesmosomes. Gene analysis revealed a homozygous missense mutation at c.1358G>A in CDSN. Electron microscopic examination of the length and number of corneodesmosomes revealed statistically significant shortness and sparsity in the affected individual (mean ± SD 386.2 ± 149.5 nm) compared with that of an age- and site-matched control (406.6 ± 182.3 nm). We speculate that this size shrinkage of corneodesmosomes might be the result of a missense mutation of CDSN and that this could be one of the factors contributing to the pathological process of skin peeling. |
| first_indexed | 2024-12-11T01:22:44Z |
| format | Article |
| id | doaj.art-2bbfdff0f9044daea711a0e93913c2ad |
| institution | Directory Open Access Journal |
| issn | 1662-6567 |
| language | English |
| last_indexed | 2024-12-11T01:22:44Z |
| publishDate | 2014-10-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Dermatology |
| spelling | doaj.art-2bbfdff0f9044daea711a0e93913c2ad2022-12-22T01:25:38ZengKarger PublishersCase Reports in Dermatology1662-65672014-10-016323223810.1159/000368823368823A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSNHiroshi KawakamiMasaki UchiyamaTatsuo MaedaTakahiko TsunodaYoshihiko MitsuhashiRyoji TsuboiA 54-year-old Japanese woman had repetitive superficial skin peeling and ensuing erythematous changes in the sites since infancy. Her parents had a consanguineous marriage, and she was the only individual affected in her family tree. The erythematous changes seemed to worsen in the summer. Histologically, hyperkeratosis and splitting of the epidermis within the stratum corneum was noted, and electron microscopy revealed shedding of corneal cells in the horny layer and normal-looking corneodesmosomes. Gene analysis revealed a homozygous missense mutation at c.1358G>A in CDSN. Electron microscopic examination of the length and number of corneodesmosomes revealed statistically significant shortness and sparsity in the affected individual (mean ± SD 386.2 ± 149.5 nm) compared with that of an age- and site-matched control (406.6 ± 182.3 nm). We speculate that this size shrinkage of corneodesmosomes might be the result of a missense mutation of CDSN and that this could be one of the factors contributing to the pathological process of skin peeling.http://www.karger.com/Article/FullText/368823Inflammatory generalized peeling skin syndromeCDSNCorneodesmosomesHomozygous missense mutation |
| spellingShingle | Hiroshi Kawakami Masaki Uchiyama Tatsuo Maeda Takahiko Tsunoda Yoshihiko Mitsuhashi Ryoji Tsuboi A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN Case Reports in Dermatology Inflammatory generalized peeling skin syndrome CDSN Corneodesmosomes Homozygous missense mutation |
| title | A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN |
| title_full | A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN |
| title_fullStr | A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN |
| title_full_unstemmed | A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN |
| title_short | A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN |
| title_sort | case of inflammatory generalized type of peeling skin syndrome possibly caused by a homozygous missense mutation of cdsn |
| topic | Inflammatory generalized peeling skin syndrome CDSN Corneodesmosomes Homozygous missense mutation |
| url | http://www.karger.com/Article/FullText/368823 |
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