PSENEN mutation in a Chinese family manifesting as concurrent hidradenitis suppurativa and Dowling-Degos disease: a case report of four generations
Hidradenitis suppurativa and Dowling-Degos disease are two independent rare diseases with characteristic clinical manifestations. The PSENEN gene encodes a critical subunit of the γ-secretase complex, mutations of which can independently or concurrently lead to hidradenitis suppurativa and Dowling-D...
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Frontiers Media S.A.
2025-05-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2025.1542909/full |
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| author | Qiuhe Song Chaowen Zhang Pengfei Xu Jianqiao Wang Fangfang Liao Qipeng Xiao Yousheng Mao Yousheng Mao |
| author_facet | Qiuhe Song Chaowen Zhang Pengfei Xu Jianqiao Wang Fangfang Liao Qipeng Xiao Yousheng Mao Yousheng Mao |
| author_sort | Qiuhe Song |
| collection | DOAJ |
| description | Hidradenitis suppurativa and Dowling-Degos disease are two independent rare diseases with characteristic clinical manifestations. The PSENEN gene encodes a critical subunit of the γ-secretase complex, mutations of which can independently or concurrently lead to hidradenitis suppurativa and Dowling-Degos disease. Given the rarity of pathogenic PSENEN mutations in the general population, further elucidation of their relationship with these conditions is warranted. We conducted an investigation on a multigenerational Chinese family encompassing 14 members, all of whom exhibited clinical manifestations of both hidradenitis suppurativa and Dowling-Degos disease. Diagnosis was established through pedigree analysis, clinical assessment, pathological examination, Twist whole-exome sequencing and Sanger sequencing. Genetic analysis revealed a deletion mutation (c.66delG) in the PSENEN gene located on chromosome 19, marking this mutation being associated with the clinical manifestations of both diseases. Additionally, this article reviews existing literature and discusses the potential systemic comorbidities associated with PSENEN mutations in relation to the clinical phenotypes of skin diseases. These findings contribute novel insights into genotype–phenotype correlations involving the PSENEN gene, expanding our understanding of these complex dermatologic disorders at the molecular level. |
| format | Article |
| id | doaj-art-4613fcc280124c83a2c4089ecd4528eb |
| institution | OA Journals |
| issn | 2296-858X |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj-art-4613fcc280124c83a2c4089ecd4528eb2025-08-20T02:26:07ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2025-05-011210.3389/fmed.2025.15429091542909PSENEN mutation in a Chinese family manifesting as concurrent hidradenitis suppurativa and Dowling-Degos disease: a case report of four generationsQiuhe Song0Chaowen Zhang1Pengfei Xu2Jianqiao Wang3Fangfang Liao4Qipeng Xiao5Yousheng Mao6Yousheng Mao7Department of Dermatology, Affiliated Hospital of Jiujiang University, Jiujiang, ChinaDepartment of Dermatology, Affiliated Hospital of Jiujiang University, Jiujiang, ChinaDepartment of Dermatology, Affiliated Hospital of Jiujiang University, Jiujiang, ChinaDepartment of Dermatology, Affiliated Hospital of Jiujiang University, Jiujiang, ChinaDepartment of Dermatology, Affiliated Hospital of Jiujiang University, Jiujiang, ChinaDepartment of Dermatology, Affiliated Hospital of Jiujiang University, Jiujiang, ChinaDepartment of Dermatology, Affiliated Hospital of Jiujiang University, Jiujiang, ChinaJiujiang Clinical Precision Medicine Research Center, Affiliated Hospital of Jiujiang University, Jiujiang, ChinaHidradenitis suppurativa and Dowling-Degos disease are two independent rare diseases with characteristic clinical manifestations. The PSENEN gene encodes a critical subunit of the γ-secretase complex, mutations of which can independently or concurrently lead to hidradenitis suppurativa and Dowling-Degos disease. Given the rarity of pathogenic PSENEN mutations in the general population, further elucidation of their relationship with these conditions is warranted. We conducted an investigation on a multigenerational Chinese family encompassing 14 members, all of whom exhibited clinical manifestations of both hidradenitis suppurativa and Dowling-Degos disease. Diagnosis was established through pedigree analysis, clinical assessment, pathological examination, Twist whole-exome sequencing and Sanger sequencing. Genetic analysis revealed a deletion mutation (c.66delG) in the PSENEN gene located on chromosome 19, marking this mutation being associated with the clinical manifestations of both diseases. Additionally, this article reviews existing literature and discusses the potential systemic comorbidities associated with PSENEN mutations in relation to the clinical phenotypes of skin diseases. These findings contribute novel insights into genotype–phenotype correlations involving the PSENEN gene, expanding our understanding of these complex dermatologic disorders at the molecular level.https://www.frontiersin.org/articles/10.3389/fmed.2025.1542909/fullhidradenitis suppurativacase reportmutationDowling-Degos diseasePSENEN |
| spellingShingle | Qiuhe Song Chaowen Zhang Pengfei Xu Jianqiao Wang Fangfang Liao Qipeng Xiao Yousheng Mao Yousheng Mao PSENEN mutation in a Chinese family manifesting as concurrent hidradenitis suppurativa and Dowling-Degos disease: a case report of four generations Frontiers in Medicine hidradenitis suppurativa case report mutation Dowling-Degos disease PSENEN |
| title | PSENEN mutation in a Chinese family manifesting as concurrent hidradenitis suppurativa and Dowling-Degos disease: a case report of four generations |
| title_full | PSENEN mutation in a Chinese family manifesting as concurrent hidradenitis suppurativa and Dowling-Degos disease: a case report of four generations |
| title_fullStr | PSENEN mutation in a Chinese family manifesting as concurrent hidradenitis suppurativa and Dowling-Degos disease: a case report of four generations |
| title_full_unstemmed | PSENEN mutation in a Chinese family manifesting as concurrent hidradenitis suppurativa and Dowling-Degos disease: a case report of four generations |
| title_short | PSENEN mutation in a Chinese family manifesting as concurrent hidradenitis suppurativa and Dowling-Degos disease: a case report of four generations |
| title_sort | psenen mutation in a chinese family manifesting as concurrent hidradenitis suppurativa and dowling degos disease a case report of four generations |
| topic | hidradenitis suppurativa case report mutation Dowling-Degos disease PSENEN |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2025.1542909/full |
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