Long-term survival of harlequin ichthyosis in two siblings with novel ABCA12 mutations

International Journal of DermatologyEarly View Correspondence Long-term survival of harlequin ichthyosis in two siblings with novel ABCA12 mutations Xuping Niu MD, PhD, Xuping Niu MD, PhD Shanxi Key Laboratory of Stem Cells for Immunological Dermatosis, Institute of Dermatology, Taiyuan Central Hospital of Shanxi Medical University, Taiyuan, Shanxi, ChinaSearch for more papers by this authorXinhua Li MD, PhD, Xinhua Li MD, PhD Shanxi Key Laboratory of Stem Cells for Immunological Dermatosis, Institute of Dermatology, Taiyuan Central Hospital of Shanxi Medical University, Taiyuan, Shanxi, ChinaSearch for more papers by this authorQixin Han MM, Qixin Han MM Shanxi Key Laboratory of Stem Cells for Immunological Dermatosis, Institute of Dermatology, Taiyuan Central Hospital of Shanxi Medical University, Taiyuan, Shanxi, ChinaSearch for more papers by this authorRuixia Hou MD, PhD, Ruixia Hou MD, PhD Shanxi Key Laboratory of Stem Cells for Immunological Dermatosis, Institute of Dermatology, Taiyuan Central Hospital of Shanxi Medical University, Taiyuan, Shanxi, ChinaSearch for more papers by this authorKaiming Zhang MD, PhD, Corresponding Author Kaiming Zhang MD, PhD [email protected] Shanxi Key Laboratory of Stem Cells for Immunological Dermatosis, Institute of Dermatology, Taiyuan Central Hospital of Shanxi Medical University, Taiyuan, Shanxi, ChinaSearch for more papers by this author Xuping Niu MD, PhD, Xuping Niu MD, PhD Shanxi Key Laboratory of Stem Cells for Immunological Dermatosis, Institute of Dermatology, Taiyuan Central Hospital of Shanxi Medical University, Taiyuan, Shanxi, ChinaSearch for more papers by this authorXinhua Li MD, PhD, Xinhua Li MD, PhD Shanxi Key Laboratory of Stem Cells for Immunological Dermatosis, Institute of Dermatology, Taiyuan Central Hospital of Shanxi Medical University, Taiyuan, Shanxi, ChinaSearch for more papers by this authorQixin Han MM, Qixin Han MM Shanxi Key Laboratory of Stem Cells for Immunological Dermatosis, Institute of Dermatology, Taiyuan Central Hospital of Shanxi Medical University, Taiyuan, Shanxi, ChinaSearch for more papers by this authorRuixia Hou MD, PhD, Ruixia Hou MD, PhD Shanxi Key Laboratory of Stem Cells for Immunological Dermatosis, Institute of Dermatology, Taiyuan Central Hospital of Shanxi Medical University, Taiyuan, Shanxi, ChinaSearch for more papers by this authorKaiming Zhang MD, PhD, Corresponding Author Kaiming Zhang MD, PhD [email protected] Shanxi Key Laboratory of Stem Cells for Immunological Dermatosis, Institute of Dermatology, Taiyuan Central Hospital of Shanxi Medical University, Taiyuan, Shanxi, ChinaSearch for more papers by this author First published: 21 August 2023 https://doi.org/10.1111/ijd.16812 Conflict of interest: None. Funding source: None. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Tanahashi K, Sugiura K, Sato T, Akiyama M. Noteworthy clinical findings of harlequin ichthyosis: digital autoamputation caused by cutaneous constriction bands in a case with novel ABCA12 mutations. Br J Dermatol. 2016; 174(3): 689–691. 2Rajpar SF, Cullup T, Kelsell DP, Moss C. A novel ABCA12 mutation underlying a case of Harlequin ichthyosis. Br J Dermatol. 2006; 155(1): 204–206. 3Akiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts. Hum Mutat. 2010; 31(10): 1090–1096. 4Salehin S, Azizimoghadam A, Abdollahimohammad A, Babaeipour-Divshali M. Harlequin ichthyosis: case report. J Res Med Sci. 2013; 18(11): 1004–1005. 5Chu Y-Y, Lai M-Y, Liao H-T. Early escharotomy-like procedure for the prevention o f extremity autoamputation in harlequin ichthyosis. Biomed J. 2021; 44(2): 223–226. 6Sharma A, Rozzelle A, Jahnke MN, Desai J, Shwayder TA, Kisseih E, et al. ABCA12 homozygous mutation in harlequin ichthyosis: survival without systemic retinoids. Pediatr Dermatol. 2019; 36(3): 339–341. 7Pet MA, Gupta D, Tse RW. Harlequin ichthyosis: a surgical perspective. Pediatr Dermatol. 2016; 33(5): e327–e332. 8Akiyama M, Sakai K, Wolff G, Hausser I, McMillan JR, Sawamura D, et al. A novel ABCA 12 mutation 3270delT causes harlequin ichthyosis. Br J Dermatol. 2006; 155(5): 1064–1066. 9Akiyama M, Sakai K, Sugiyama-Nakagiri Y, Yamanaka Y, McMillan JR, Sawamura D, et al. Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis. J Invest Dermatol. 2006; 126(7): 1518–1523. Early ViewOnline Version of Record before inclusion in an issue ReferencesRelatedInformation