An atypical case of incontinentia pigmenti with a hypomorphic variant
Incontinentia pigmenti (IP) is a rare X‐linked dominant genodermatosis that affects skin, hair, teeth, eyes and central nervous system. We present the case of a female patient with mild IP caused by a hypomorphic pathogenic variant of the inhibitor of the kappa light polypeptide gene enhancer in B c...
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| Veröffentlicht in: | Pediatric dermatology 2024-03, Vol.41 (2), p.351-353 |
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| container_title | Pediatric dermatology |
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| creator | Guo, Youming Bu, Wenbo Jia, Weixue Zhang, Yuanyuan Li, Chengrang |
| description | Incontinentia pigmenti (IP) is a rare X‐linked dominant genodermatosis that affects skin, hair, teeth, eyes and central nervous system. We present the case of a female patient with mild IP caused by a hypomorphic pathogenic variant of the inhibitor of the kappa light polypeptide gene enhancer in B cells, kinase gamma (IKBKG) gene. This is the first report of a female IP patient with the hypomorphic variant, NM_001099856.6: c.1423dup, which is causative of anhidrotic ectodermal dysplasia with immune deficiency in males. |
| doi_str_mv | 10.1111/pde.15456 |
| format | Article |
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We present the case of a female patient with mild IP caused by a hypomorphic pathogenic variant of the inhibitor of the kappa light polypeptide gene enhancer in B cells, kinase gamma (IKBKG) gene. This is the first report of a female IP patient with the hypomorphic variant, NM_001099856.6: c.1423dup, which is causative of anhidrotic ectodermal dysplasia with immune deficiency in males.</description><identifier>ISSN: 0736-8046</identifier><identifier>EISSN: 1525-1470</identifier><identifier>DOI: 10.1111/pde.15456</identifier><identifier>PMID: 37853991</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>Anhidrotic ectodermal dysplasia ; Central nervous system ; Ectodermal Dysplasia - genetics ; Female ; genetic disease ; Genodermatosis ; Humans ; hypomorphic mutation ; I-kappa B Kinase - genetics ; Immunologic Deficiency Syndromes - genetics ; Incontinentia pigmenti ; Incontinentia Pigmenti - diagnosis ; Incontinentia Pigmenti - genetics ; Incontinentia Pigmenti - pathology ; Lymphocytes B ; Mutation ; Pediatrics ; rare disease ; Skin - pathology</subject><ispartof>Pediatric dermatology, 2024-03, Vol.41 (2), p.351-353</ispartof><rights>2023 Wiley Periodicals LLC.</rights><rights>2024 Wiley Periodicals LLC.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3136-6c7701adda02f8eba9553deec398d62282de82876e1202b41c6f49a6697e192c3</cites><orcidid>0000-0003-2052-5464 ; 0000-0003-4624-6586</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fpde.15456$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fpde.15456$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/37853991$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Guo, Youming</creatorcontrib><creatorcontrib>Bu, Wenbo</creatorcontrib><creatorcontrib>Jia, Weixue</creatorcontrib><creatorcontrib>Zhang, Yuanyuan</creatorcontrib><creatorcontrib>Li, Chengrang</creatorcontrib><title>An atypical case of incontinentia pigmenti with a hypomorphic variant</title><title>Pediatric dermatology</title><addtitle>Pediatr Dermatol</addtitle><description>Incontinentia pigmenti (IP) is a rare X‐linked dominant genodermatosis that affects skin, hair, teeth, eyes and central nervous system. We present the case of a female patient with mild IP caused by a hypomorphic pathogenic variant of the inhibitor of the kappa light polypeptide gene enhancer in B cells, kinase gamma (IKBKG) gene. This is the first report of a female IP patient with the hypomorphic variant, NM_001099856.6: c.1423dup, which is causative of anhidrotic ectodermal dysplasia with immune deficiency in males.</description><subject>Anhidrotic ectodermal dysplasia</subject><subject>Central nervous system</subject><subject>Ectodermal Dysplasia - genetics</subject><subject>Female</subject><subject>genetic disease</subject><subject>Genodermatosis</subject><subject>Humans</subject><subject>hypomorphic mutation</subject><subject>I-kappa B Kinase - genetics</subject><subject>Immunologic Deficiency Syndromes - genetics</subject><subject>Incontinentia pigmenti</subject><subject>Incontinentia Pigmenti - diagnosis</subject><subject>Incontinentia Pigmenti - genetics</subject><subject>Incontinentia Pigmenti - pathology</subject><subject>Lymphocytes B</subject><subject>Mutation</subject><subject>Pediatrics</subject><subject>rare disease</subject><subject>Skin - pathology</subject><issn>0736-8046</issn><issn>1525-1470</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kD1PwzAQhi0EoqUw8AeQJRYY0vojduyxKuVDqgQDzJbrONRVvogTqvx7XFIYkLjh7obnHp1eAC4xmuJQszq1U8xixo_AGDPCIhwn6BiMUUJ5JFDMR-DM-y1CSHCOT8GIJoJRKfEYLOcl1G1fO6NzaLS3sMqgK01Vtq60oWlYu_div8GdazdQw01fV0XV1Btn4KdunC7bc3CS6dzbi8OcgLf75eviMVo9Pzwt5qvIUBxe4SZJENZpqhHJhF1ryRhNrTVUipQTIkhqBREJt5ggso6x4VksNecysVgSQyfgZvDWTfXRWd-qwnlj81yXtuq8CrcyRjRBNKDXf9Bt1TVl-E4RyQSmEmEWqNuBMk3lfWMzVTeu0E2vMFL7bFXIVn1nG9irg7FbFzb9JX_CDMBsAHYut_3_JvVytxyUX_gDgZY</recordid><startdate>202403</startdate><enddate>202403</enddate><creator>Guo, Youming</creator><creator>Bu, Wenbo</creator><creator>Jia, Weixue</creator><creator>Zhang, Yuanyuan</creator><creator>Li, Chengrang</creator><general>Wiley Subscription Services, Inc</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>7T5</scope><scope>H94</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-2052-5464</orcidid><orcidid>https://orcid.org/0000-0003-4624-6586</orcidid></search><sort><creationdate>202403</creationdate><title>An atypical case of incontinentia pigmenti with a hypomorphic variant</title><author>Guo, Youming ; 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We present the case of a female patient with mild IP caused by a hypomorphic pathogenic variant of the inhibitor of the kappa light polypeptide gene enhancer in B cells, kinase gamma (IKBKG) gene. This is the first report of a female IP patient with the hypomorphic variant, NM_001099856.6: c.1423dup, which is causative of anhidrotic ectodermal dysplasia with immune deficiency in males.</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>37853991</pmid><doi>10.1111/pde.15456</doi><tpages>3</tpages><orcidid>https://orcid.org/0000-0003-2052-5464</orcidid><orcidid>https://orcid.org/0000-0003-4624-6586</orcidid></addata></record> |
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| ispartof | Pediatric dermatology, 2024-03, Vol.41 (2), p.351-353 |
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| language | eng |
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| source | MEDLINE; Wiley Online Library |
| subjects | Anhidrotic ectodermal dysplasia Central nervous system Ectodermal Dysplasia - genetics Female genetic disease Genodermatosis Humans hypomorphic mutation I-kappa B Kinase - genetics Immunologic Deficiency Syndromes - genetics Incontinentia pigmenti Incontinentia Pigmenti - diagnosis Incontinentia Pigmenti - genetics Incontinentia Pigmenti - pathology Lymphocytes B Mutation Pediatrics rare disease Skin - pathology |
| title | An atypical case of incontinentia pigmenti with a hypomorphic variant |
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