Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity
Background Annular epidermolytic ichthyosis (AEI) is a rare autosomal dominant ichthyosis that was recently described in 10 separate families in the English literature. There are no reports on the phenotypic heterogeneity of AEI. Objectives We investigated, for the first time, a large Chinese AEI pe...
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| Veröffentlicht in: | EJD. European journal of dermatology 2020-06, Vol.30 (3), p.294-299 |
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| creator | Liang, Bo Yuan, Tao Zhou, Yi Ding, Yantao Tang, Lili Wang, Feng Wang, Peiguang Li, Hui Zhang, Yan Zhu, Mengting Ji, Yunxi Hong, Xiaojie Zhang, Xuejun Zhu, Qixing |
| description | Background
Annular epidermolytic ichthyosis (AEI) is a rare autosomal dominant ichthyosis that was recently described in 10 separate families in the English literature. There are no reports on the phenotypic heterogeneity of AEI.
Objectives
We investigated, for the first time, a large Chinese AEI pedigree exhibiting interfamilial phenotypic heterogeneity.
Materials and Methods
We collected clinical data and DNA from the members of the family, and skin lesions were obtained from two patients with different phenotypes. Skin imaging examinations were performed. Whole-exome sequencing (WES) and Sanger sequencing were used to detect gene mutations.
Results
The characteristic features of granular layer degeneration in the two biopsies were verified via histological methods. The missense mutation c.1436T > Cin
KRT1
was detected in all nine patients.
Conclusion
This study demonstrates that AEI may present with different clinical phenotypes and that mutation analysis for suspected cases is necessary to obtain a precise diagnosis. |
| doi_str_mv | 10.1684/ejd.2020.3764 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2424095782</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2424095782</sourcerecordid><originalsourceid>FETCH-LOGICAL-c332t-61c022e6c4135d55ef448acf9a0ada44a528e38d04899fdc7759eb300c67453d3</originalsourceid><addsrcrecordid>eNp1kM1O3DAURq2KqlDaZbcoSzYZ_BcnZocQUKSRumnXlrFviIfEDrYjlCfoa-PRADtWtvQdf773IPSL4A0RHb-And1QTPGGtYJ_QSdENrTmmLCjcieirQmh9Bh9T2mHCyZZ9w0dMyqEkFSeoP9X3i-jjhXMzkKcwrhmZypnhjysIblUvbg8VLMepzCP2ueCPkHUeZ9dVrpavHteoJoH8CGvM1Q6pWCczmAPT53PEHs9udHp8YMrfwxQgvAIHlxef6CvvR4T_Hw7T9G_25u_17_r7Z-7--urbW0Yo7kWxGBKQRhOWGObBnrOO216qbG2mnPd0A5YZzHvpOytadtGwgPD2IiWN8yyU3R-6J1jKHOnrCaXDIxlNQhLUpRTjmXTdrSg9QE1MaQUoVdzdJOOqyJY7d2r4l7t3au9-8KfvVUvDxPYD_pddgE2ByCVyD9CVLuwRF_W_aTxFV_Pkyw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2424095782</pqid></control><display><type>article</type><title>Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity</title><source>MEDLINE</source><source>SpringerNature Journals</source><creator>Liang, Bo ; Yuan, Tao ; Zhou, Yi ; Ding, Yantao ; Tang, Lili ; Wang, Feng ; Wang, Peiguang ; Li, Hui ; Zhang, Yan ; Zhu, Mengting ; Ji, Yunxi ; Hong, Xiaojie ; Zhang, Xuejun ; Zhu, Qixing</creator><creatorcontrib>Liang, Bo ; Yuan, Tao ; Zhou, Yi ; Ding, Yantao ; Tang, Lili ; Wang, Feng ; Wang, Peiguang ; Li, Hui ; Zhang, Yan ; Zhu, Mengting ; Ji, Yunxi ; Hong, Xiaojie ; Zhang, Xuejun ; Zhu, Qixing</creatorcontrib><description>Background
Annular epidermolytic ichthyosis (AEI) is a rare autosomal dominant ichthyosis that was recently described in 10 separate families in the English literature. There are no reports on the phenotypic heterogeneity of AEI.
Objectives
We investigated, for the first time, a large Chinese AEI pedigree exhibiting interfamilial phenotypic heterogeneity.
Materials and Methods
We collected clinical data and DNA from the members of the family, and skin lesions were obtained from two patients with different phenotypes. Skin imaging examinations were performed. Whole-exome sequencing (WES) and Sanger sequencing were used to detect gene mutations.
Results
The characteristic features of granular layer degeneration in the two biopsies were verified via histological methods. The missense mutation c.1436T > Cin
KRT1
was detected in all nine patients.
Conclusion
This study demonstrates that AEI may present with different clinical phenotypes and that mutation analysis for suspected cases is necessary to obtain a precise diagnosis.</description><identifier>ISSN: 1167-1122</identifier><identifier>EISSN: 1952-4013</identifier><identifier>DOI: 10.1684/ejd.2020.3764</identifier><identifier>PMID: 32666929</identifier><language>eng</language><publisher>Paris: John Libbey Eurotext</publisher><subject>Adult ; Biopsy ; Child, Preschool ; Dermatology ; Dermoscopy ; DNA Mutational Analysis ; Female ; Genes and Skin ; Humans ; Hyperkeratosis, Epidermolytic - complications ; Hyperkeratosis, Epidermolytic - diagnostic imaging ; Hyperkeratosis, Epidermolytic - genetics ; Hyperkeratosis, Epidermolytic - pathology ; Keratin-1 - genetics ; Keratin-1 - metabolism ; Keratoderma, Palmoplantar, Epidermolytic - complications ; Keratoderma, Palmoplantar, Epidermolytic - genetics ; Male ; Medicine ; Medicine & Public Health ; Microscopy, Confocal ; Mutation, Missense ; Pedigree ; Phenotype ; Skin - pathology ; Whole Exome Sequencing</subject><ispartof>EJD. European journal of dermatology, 2020-06, Vol.30 (3), p.294-299</ispartof><rights>JLE/Springer 2020</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c332t-61c022e6c4135d55ef448acf9a0ada44a528e38d04899fdc7759eb300c67453d3</citedby><cites>FETCH-LOGICAL-c332t-61c022e6c4135d55ef448acf9a0ada44a528e38d04899fdc7759eb300c67453d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1684/ejd.2020.3764$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1684/ejd.2020.3764$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32666929$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Liang, Bo</creatorcontrib><creatorcontrib>Yuan, Tao</creatorcontrib><creatorcontrib>Zhou, Yi</creatorcontrib><creatorcontrib>Ding, Yantao</creatorcontrib><creatorcontrib>Tang, Lili</creatorcontrib><creatorcontrib>Wang, Feng</creatorcontrib><creatorcontrib>Wang, Peiguang</creatorcontrib><creatorcontrib>Li, Hui</creatorcontrib><creatorcontrib>Zhang, Yan</creatorcontrib><creatorcontrib>Zhu, Mengting</creatorcontrib><creatorcontrib>Ji, Yunxi</creatorcontrib><creatorcontrib>Hong, Xiaojie</creatorcontrib><creatorcontrib>Zhang, Xuejun</creatorcontrib><creatorcontrib>Zhu, Qixing</creatorcontrib><title>Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity</title><title>EJD. European journal of dermatology</title><addtitle>Eur J Dermatol</addtitle><addtitle>Eur J Dermatol</addtitle><description>Background
Annular epidermolytic ichthyosis (AEI) is a rare autosomal dominant ichthyosis that was recently described in 10 separate families in the English literature. There are no reports on the phenotypic heterogeneity of AEI.
Objectives
We investigated, for the first time, a large Chinese AEI pedigree exhibiting interfamilial phenotypic heterogeneity.
Materials and Methods
We collected clinical data and DNA from the members of the family, and skin lesions were obtained from two patients with different phenotypes. Skin imaging examinations were performed. Whole-exome sequencing (WES) and Sanger sequencing were used to detect gene mutations.
Results
The characteristic features of granular layer degeneration in the two biopsies were verified via histological methods. The missense mutation c.1436T > Cin
KRT1
was detected in all nine patients.
Conclusion
This study demonstrates that AEI may present with different clinical phenotypes and that mutation analysis for suspected cases is necessary to obtain a precise diagnosis.</description><subject>Adult</subject><subject>Biopsy</subject><subject>Child, Preschool</subject><subject>Dermatology</subject><subject>Dermoscopy</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Genes and Skin</subject><subject>Humans</subject><subject>Hyperkeratosis, Epidermolytic - complications</subject><subject>Hyperkeratosis, Epidermolytic - diagnostic imaging</subject><subject>Hyperkeratosis, Epidermolytic - genetics</subject><subject>Hyperkeratosis, Epidermolytic - pathology</subject><subject>Keratin-1 - genetics</subject><subject>Keratin-1 - metabolism</subject><subject>Keratoderma, Palmoplantar, Epidermolytic - complications</subject><subject>Keratoderma, Palmoplantar, Epidermolytic - genetics</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Microscopy, Confocal</subject><subject>Mutation, Missense</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Skin - pathology</subject><subject>Whole Exome Sequencing</subject><issn>1167-1122</issn><issn>1952-4013</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kM1O3DAURq2KqlDaZbcoSzYZ_BcnZocQUKSRumnXlrFviIfEDrYjlCfoa-PRADtWtvQdf773IPSL4A0RHb-And1QTPGGtYJ_QSdENrTmmLCjcieirQmh9Bh9T2mHCyZZ9w0dMyqEkFSeoP9X3i-jjhXMzkKcwrhmZypnhjysIblUvbg8VLMepzCP2ueCPkHUeZ9dVrpavHteoJoH8CGvM1Q6pWCczmAPT53PEHs9udHp8YMrfwxQgvAIHlxef6CvvR4T_Hw7T9G_25u_17_r7Z-7--urbW0Yo7kWxGBKQRhOWGObBnrOO216qbG2mnPd0A5YZzHvpOytadtGwgPD2IiWN8yyU3R-6J1jKHOnrCaXDIxlNQhLUpRTjmXTdrSg9QE1MaQUoVdzdJOOqyJY7d2r4l7t3au9-8KfvVUvDxPYD_pddgE2ByCVyD9CVLuwRF_W_aTxFV_Pkyw</recordid><startdate>20200601</startdate><enddate>20200601</enddate><creator>Liang, Bo</creator><creator>Yuan, Tao</creator><creator>Zhou, Yi</creator><creator>Ding, Yantao</creator><creator>Tang, Lili</creator><creator>Wang, Feng</creator><creator>Wang, Peiguang</creator><creator>Li, Hui</creator><creator>Zhang, Yan</creator><creator>Zhu, Mengting</creator><creator>Ji, Yunxi</creator><creator>Hong, Xiaojie</creator><creator>Zhang, Xuejun</creator><creator>Zhu, Qixing</creator><general>John Libbey Eurotext</general><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>7X8</scope></search><sort><creationdate>20200601</creationdate><title>Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity</title><author>Liang, Bo ; Yuan, Tao ; Zhou, Yi ; Ding, Yantao ; Tang, Lili ; Wang, Feng ; Wang, Peiguang ; Li, Hui ; Zhang, Yan ; Zhu, Mengting ; Ji, Yunxi ; Hong, Xiaojie ; Zhang, Xuejun ; Zhu, Qixing</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c332t-61c022e6c4135d55ef448acf9a0ada44a528e38d04899fdc7759eb300c67453d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Adult</topic><topic>Biopsy</topic><topic>Child, Preschool</topic><topic>Dermatology</topic><topic>Dermoscopy</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>Genes and Skin</topic><topic>Humans</topic><topic>Hyperkeratosis, Epidermolytic - complications</topic><topic>Hyperkeratosis, Epidermolytic - diagnostic imaging</topic><topic>Hyperkeratosis, Epidermolytic - genetics</topic><topic>Hyperkeratosis, Epidermolytic - pathology</topic><topic>Keratin-1 - genetics</topic><topic>Keratin-1 - metabolism</topic><topic>Keratoderma, Palmoplantar, Epidermolytic - complications</topic><topic>Keratoderma, Palmoplantar, Epidermolytic - genetics</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Microscopy, Confocal</topic><topic>Mutation, Missense</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Skin - pathology</topic><topic>Whole Exome Sequencing</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Liang, Bo</creatorcontrib><creatorcontrib>Yuan, Tao</creatorcontrib><creatorcontrib>Zhou, Yi</creatorcontrib><creatorcontrib>Ding, Yantao</creatorcontrib><creatorcontrib>Tang, Lili</creatorcontrib><creatorcontrib>Wang, Feng</creatorcontrib><creatorcontrib>Wang, Peiguang</creatorcontrib><creatorcontrib>Li, Hui</creatorcontrib><creatorcontrib>Zhang, Yan</creatorcontrib><creatorcontrib>Zhu, Mengting</creatorcontrib><creatorcontrib>Ji, Yunxi</creatorcontrib><creatorcontrib>Hong, Xiaojie</creatorcontrib><creatorcontrib>Zhang, Xuejun</creatorcontrib><creatorcontrib>Zhu, Qixing</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>EJD. European journal of dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Liang, Bo</au><au>Yuan, Tao</au><au>Zhou, Yi</au><au>Ding, Yantao</au><au>Tang, Lili</au><au>Wang, Feng</au><au>Wang, Peiguang</au><au>Li, Hui</au><au>Zhang, Yan</au><au>Zhu, Mengting</au><au>Ji, Yunxi</au><au>Hong, Xiaojie</au><au>Zhang, Xuejun</au><au>Zhu, Qixing</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity</atitle><jtitle>EJD. European journal of dermatology</jtitle><stitle>Eur J Dermatol</stitle><addtitle>Eur J Dermatol</addtitle><date>2020-06-01</date><risdate>2020</risdate><volume>30</volume><issue>3</issue><spage>294</spage><epage>299</epage><pages>294-299</pages><issn>1167-1122</issn><eissn>1952-4013</eissn><abstract>Background
Annular epidermolytic ichthyosis (AEI) is a rare autosomal dominant ichthyosis that was recently described in 10 separate families in the English literature. There are no reports on the phenotypic heterogeneity of AEI.
Objectives
We investigated, for the first time, a large Chinese AEI pedigree exhibiting interfamilial phenotypic heterogeneity.
Materials and Methods
We collected clinical data and DNA from the members of the family, and skin lesions were obtained from two patients with different phenotypes. Skin imaging examinations were performed. Whole-exome sequencing (WES) and Sanger sequencing were used to detect gene mutations.
Results
The characteristic features of granular layer degeneration in the two biopsies were verified via histological methods. The missense mutation c.1436T > Cin
KRT1
was detected in all nine patients.
Conclusion
This study demonstrates that AEI may present with different clinical phenotypes and that mutation analysis for suspected cases is necessary to obtain a precise diagnosis.</abstract><cop>Paris</cop><pub>John Libbey Eurotext</pub><pmid>32666929</pmid><doi>10.1684/ejd.2020.3764</doi><tpages>6</tpages></addata></record> |
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| ispartof | EJD. European journal of dermatology, 2020-06, Vol.30 (3), p.294-299 |
| issn | 1167-1122 1952-4013 |
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| source | MEDLINE; SpringerNature Journals |
| subjects | Adult Biopsy Child, Preschool Dermatology Dermoscopy DNA Mutational Analysis Female Genes and Skin Humans Hyperkeratosis, Epidermolytic - complications Hyperkeratosis, Epidermolytic - diagnostic imaging Hyperkeratosis, Epidermolytic - genetics Hyperkeratosis, Epidermolytic - pathology Keratin-1 - genetics Keratin-1 - metabolism Keratoderma, Palmoplantar, Epidermolytic - complications Keratoderma, Palmoplantar, Epidermolytic - genetics Male Medicine Medicine & Public Health Microscopy, Confocal Mutation, Missense Pedigree Phenotype Skin - pathology Whole Exome Sequencing |
| title | Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity |
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