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https://doi.org/10.4081/dr.2025.10343

Recessive mosaicism in ABCA12 causes a unique phenotype of segmental congenital ichthyosiform erythroderma mimicking erythrokeratodermia variabilis

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Received: 10 March 2025
Accepted: 17 May 2025
Published: 3 November 2025
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Segmental congenital ichthyosiform erythroderma, ABCA12, erythrokeratodermia variabilis, mosaic mutation

Authors

Yuzhi Ma
1204423902@qq.com
Dermatology Center, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Jia Zhang
Dermatology Center, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Zhirong Yao
Dermatology Center, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

We report a unique case of a 1-year-old boy presenting with nonpruritic erythematous patches and mild keratotic plaques, partially following the lines of Blaschko and mainly involving the extremities. Next-generation sequencing (NGS) revealed a heterozygous missense mutation c.4724C>T (p.Thr1575Met) and a de novo mosaic deletion mutation c.6861_6869del (p.Leu2288_Gly2290del) in the ABCA12 (NM_173076.3) gene from the DNA of the patient’s blood. Even more to the point, the lesional skin showed clinical improvement after 2 weeks of moisturizing treatment. Therefore, partial encapsulation treatment, widely used to enhance the percutaneous absorption of drugs, is suitable for mosaic ichthyosis given its localized skin lesions.

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1. Akiyama M, Sugiyama-Nakagiri Y, Sakai K, et al. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest 2005;115:1777-84. DOI: https://doi.org/10.1172/JCI24834
2. Akiyama M. The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis. Dermatoendocrinol 2011;3:107-12. DOI: https://doi.org/10.4161/derm.3.2.15136
3. Akiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts. Hum Mutat 2010;31:1090-6. DOI: https://doi.org/10.1002/humu.21326
4. van Leersum FS, Seyger MMB, Theunissen TEJ, et al. Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma. Br J Dermatol 2020;182:208-11. DOI: https://doi.org/10.1111/bjd.18216
5. Ishida-Yamamoto A. Erythrokeratodermia variabilis et progressiva. J Dermatol 2016;43:280-5. DOI: https://doi.org/10.1111/1346-8138.13220
6. Common JE, O'Toole EA, Leigh IM, et al. Clinical and genetic heterogeneity of erythrokeratoderma variabilis. J Invest Dermatol 2005;125:920-7. DOI: https://doi.org/10.1111/j.0022-202X.2005.23919.x
7. Balci DD, Yaldiz M. Erythrokeratodermia variabilis: successful palliative treatment with acitretin. Indian J Dermatol Venereol Leprol 2008;74:649-50. DOI: https://doi.org/10.4103/0378-6323.45114
8. Lee JS, Sung YH, Lee JH, Park JK. Erythrokeratodermia Variabilis with Alopecia Universalis. Ann Dermatol 1990;2:17-20. DOI: https://doi.org/10.5021/ad.1990.2.1.17
9. Fukuda S, Hamada T, Ishii N, et al. Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma. Br J Dermatol 2012;166:218-21. DOI: https://doi.org/10.1111/j.1365-2133.2011.10516.x
10. Thomas AC, Sinclair C, Mahmud N, et al. Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis. Br J Dermatol 2008;158:611-3. DOI: https://doi.org/10.1111/j.1365-2133.2007.08277.x

Supporting Agencies

This work was supported by grants from the National Natural Science Foundation of China (81903197) and grants from the Foundation of Xinhua Hospital affiliated to Shanghai Jiaotong University School of Medicine (18YJ22).
Yuzhi Ma, Dermatology Center, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai

Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Jia Zhang, Dermatology Center, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai

Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Zhirong Yao, Dermatology Center, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai

Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University; Institute of Dermatology, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

How to Cite



1.
Ma Y, Zhang J, Yao Z. Recessive mosaicism in ABCA12 causes a unique phenotype of segmental congenital ichthyosiform erythroderma mimicking erythrokeratodermia variabilis. Dermatol Reports [Internet]. 2025 Nov. 3 [cited 2026 Apr. 18];. Available from: https://journals.pagepress.net/dr/article/view/10343
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