Acrodermatitis Continua of Hallopeau and Generalised Pustular Psoriasis: Case Reports of Two Different Manifestations of IL36RN Mutation in Siblings
Mengjiao Gu,1,2,* Hanjing Huang,1,2,* Zhanshuo Xiao,3,* Fanzhang Meng,4 Han Sheng,4 Zhimin Lin,5 Chen Li,6,7 Yuanhao Wu1,2 1First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, Tianjin, People’s Republic of China; 2National Clinical Research Center f...
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Dove Medical Press
2025-03-01
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| Series: | Psoriasis: Targets and Therapy |
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| author | Gu M Huang H Xiao Z Meng F Sheng H Lin Z Li C Wu Y |
| author_facet | Gu M Huang H Xiao Z Meng F Sheng H Lin Z Li C Wu Y |
| author_sort | Gu M |
| collection | DOAJ |
| description | Mengjiao Gu,1,2,* Hanjing Huang,1,2,* Zhanshuo Xiao,3,* Fanzhang Meng,4 Han Sheng,4 Zhimin Lin,5 Chen Li,6,7 Yuanhao Wu1,2 1First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, Tianjin, People’s Republic of China; 2National Clinical Research Center for Chinese Medicine Acupuncture and Moxibustion, Tianjin, People’s Republic of China; 3Department of Dermatology, Guang’anmen Hospital, China Academy of Chinese Medical Sciences, Beijing, People’s Republic of China; 4School of Clinical Medicine, Beijing University of Chinese Medicine, Beijing, People’s Republic of China; 5Third Affiliated Hospital, Beijing University of Chinese Medicine, Beijing, People’s Republic of China; 6Department of Rheumatology, Fangshan Hospital Beijing University of Chinese Medicine, Beijing, People’s Republic of China; 7Department of Dermatology, Tianjin Institute of Integrative Dermatology, Tianjin Academy of Traditional Chinese Medicine Affiliated Hospital, Tianjin, People’s Republic of China*These authors contributed equally to this workCorrespondence: Chen Li, Fangshan Hospital Beijing University of Chinese Medicine, Beijing, China; Tianjin Academy of Traditional Chinese Medicine Affiliated Hospital, Tianjin, People’s Republic of China, Tel +86 010 13810988688, Email casio1981@163.com Yuanhao Wu, First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, Tianjin, People’s Republic of China, Tel +86 022 16622507882, Email doctor.wuyh@gmail.comAbstract: In our manuscript, we present a case study of siblings with Generalized Pustular Psoriasis (GPP) and Acrodermatitis Continua of Hallopeau (ACH), both harboring IL36RN gene mutations. The 3-year-old proband exhibited systemic pustules leading to a GPP diagnosis, while his 6-year-old sister developed nail ulcers and subungual pustules characteristic of ACH. Despite standard treatments, their conditions were refractory. Genetic analysis revealed a homozygous splice variant c.115+6 T>C, with heterozygous parents. This case underscores the role of IL36RN mutations in pustular psoriasis and supports ACH as a localized form of the disease. The distinct subtypes in siblings with identical mutations suggest a complex pathogenesis influenced by additional factors. Our findings highlight the importance of genetic testing in pustular psoriasis and warrant further investigation into the phenotypic variability of IL36RN-related disease.Keywords: Acrodermatitis Continua of Hallopeau, generalised pustular psoriasis, IL36RN gene mutations |
| format | Article |
| id | doaj-art-e1defb01c8ff4a8eb97ab5923b0e8955 |
| institution | OA Journals |
| issn | 2230-326X |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Dove Medical Press |
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| series | Psoriasis: Targets and Therapy |
| spelling | doaj-art-e1defb01c8ff4a8eb97ab5923b0e89552025-08-20T01:49:59ZengDove Medical PressPsoriasis: Targets and Therapy2230-326X2025-03-01Volume 156770101520Acrodermatitis Continua of Hallopeau and Generalised Pustular Psoriasis: Case Reports of Two Different Manifestations of IL36RN Mutation in SiblingsGu MHuang HXiao ZMeng FSheng HLin ZLi CWu YMengjiao Gu,1,2,* Hanjing Huang,1,2,* Zhanshuo Xiao,3,* Fanzhang Meng,4 Han Sheng,4 Zhimin Lin,5 Chen Li,6,7 Yuanhao Wu1,2 1First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, Tianjin, People’s Republic of China; 2National Clinical Research Center for Chinese Medicine Acupuncture and Moxibustion, Tianjin, People’s Republic of China; 3Department of Dermatology, Guang’anmen Hospital, China Academy of Chinese Medical Sciences, Beijing, People’s Republic of China; 4School of Clinical Medicine, Beijing University of Chinese Medicine, Beijing, People’s Republic of China; 5Third Affiliated Hospital, Beijing University of Chinese Medicine, Beijing, People’s Republic of China; 6Department of Rheumatology, Fangshan Hospital Beijing University of Chinese Medicine, Beijing, People’s Republic of China; 7Department of Dermatology, Tianjin Institute of Integrative Dermatology, Tianjin Academy of Traditional Chinese Medicine Affiliated Hospital, Tianjin, People’s Republic of China*These authors contributed equally to this workCorrespondence: Chen Li, Fangshan Hospital Beijing University of Chinese Medicine, Beijing, China; Tianjin Academy of Traditional Chinese Medicine Affiliated Hospital, Tianjin, People’s Republic of China, Tel +86 010 13810988688, Email casio1981@163.com Yuanhao Wu, First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, Tianjin, People’s Republic of China, Tel +86 022 16622507882, Email doctor.wuyh@gmail.comAbstract: In our manuscript, we present a case study of siblings with Generalized Pustular Psoriasis (GPP) and Acrodermatitis Continua of Hallopeau (ACH), both harboring IL36RN gene mutations. The 3-year-old proband exhibited systemic pustules leading to a GPP diagnosis, while his 6-year-old sister developed nail ulcers and subungual pustules characteristic of ACH. Despite standard treatments, their conditions were refractory. Genetic analysis revealed a homozygous splice variant c.115+6 T>C, with heterozygous parents. This case underscores the role of IL36RN mutations in pustular psoriasis and supports ACH as a localized form of the disease. The distinct subtypes in siblings with identical mutations suggest a complex pathogenesis influenced by additional factors. Our findings highlight the importance of genetic testing in pustular psoriasis and warrant further investigation into the phenotypic variability of IL36RN-related disease.Keywords: Acrodermatitis Continua of Hallopeau, generalised pustular psoriasis, IL36RN gene mutationshttps://www.dovepress.com/acrodermatitis-continua-of-hallopeau-and-generalised-pustular-psoriasi-peer-reviewed-fulltext-article-PTTacrodermatitis continua of hallopeaugeneralised pustular psoriasisil36rn gene mutations |
| spellingShingle | Gu M Huang H Xiao Z Meng F Sheng H Lin Z Li C Wu Y Acrodermatitis Continua of Hallopeau and Generalised Pustular Psoriasis: Case Reports of Two Different Manifestations of IL36RN Mutation in Siblings Psoriasis: Targets and Therapy acrodermatitis continua of hallopeau generalised pustular psoriasis il36rn gene mutations |
| title | Acrodermatitis Continua of Hallopeau and Generalised Pustular Psoriasis: Case Reports of Two Different Manifestations of IL36RN Mutation in Siblings |
| title_full | Acrodermatitis Continua of Hallopeau and Generalised Pustular Psoriasis: Case Reports of Two Different Manifestations of IL36RN Mutation in Siblings |
| title_fullStr | Acrodermatitis Continua of Hallopeau and Generalised Pustular Psoriasis: Case Reports of Two Different Manifestations of IL36RN Mutation in Siblings |
| title_full_unstemmed | Acrodermatitis Continua of Hallopeau and Generalised Pustular Psoriasis: Case Reports of Two Different Manifestations of IL36RN Mutation in Siblings |
| title_short | Acrodermatitis Continua of Hallopeau and Generalised Pustular Psoriasis: Case Reports of Two Different Manifestations of IL36RN Mutation in Siblings |
| title_sort | acrodermatitis continua of hallopeau and generalised pustular psoriasis case reports of two different manifestations of il36rn mutation in siblings |
| topic | acrodermatitis continua of hallopeau generalised pustular psoriasis il36rn gene mutations |
| url | https://www.dovepress.com/acrodermatitis-continua-of-hallopeau-and-generalised-pustular-psoriasi-peer-reviewed-fulltext-article-PTT |
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