CYP4F22基因突变致板层状鱼鳞病一例

doi:10.35541/cjd.20201073

Abstract

Abstract: 【Abstract】 A 1-month-old male infant presented with skin flushing covering with collodion-like membrane all over the body at birth, and experienced gradual skin desquamation thereafter. At the age of 2 months, collodion-like membrane completely peeled off, and the patient presented with obvious scales and dry skin. Skin examination showed generalized dry skin, tense, glossy and transparent plastic wrapper-like membrane remaining on the front chest, large and disk-shaped white scales with an adherent center and free edges inlaid in the skin of the trunk and scalp. Genetic testing showed compound heterozygous mutations in the CYP4F22 gene of the patient, including the mutation c.1137G>A（p.W379X） inherited from his father and the mutation c.467G>A（p.R156H） inherited from his mother. The patient was diagnosed with lamellar ichthyosis.

Key words: Ichthyosis, lamellar, DNA mutational analysis, CYP4F22 gene

Qin Bei, Li Qinfeng, Lian Jia. An infant with lamellar ichthyosis induced by CYP4F22 gene mutations[J]. Chinese Journal of Dermatology, 2021, 54(12): 1096-1098.doi:10.35541/cjd.20201073

References ［7］

［1］	Takeichi T, Akiyama M. Inherited ichthyosis: non⁃syndromic forms［J］. J Dermatol, 2016,43（3）:242⁃251. doi: 10.1111/1346⁃8138.13243.
［2］	李颖, 项蕾红, 牛振民, 等. 板层状鱼鳞病-家系TGM1突变基因检测［J］. 中华皮肤科杂志, 2009,42（1）:31⁃33. doi: 10.3760/cma.j.issn.0412⁃4030.2009.01.012.
［3］	魏生才, 郑广勇, 张锡宝, 等. 板层状鱼鳞病TGM1基因突变研究［J］. 中华皮肤科杂志, 2006,39（3）:131⁃133. doi: 10.3760/j.issn:0412⁃4030.2006.03.004.
［4］	Vahlquist A, Fischer J, Törmä H. Inherited nonsyndromic ichthyoses: an update on pathophysiology, diagnosis and treatment［J］. Am J Clin Dermatol, 2018,19（1）:51⁃66. doi: 10.1007/s40257⁃017⁃0313⁃x.
［5］	Ohno Y, Nakamichi S, Ohkuni A, et al. Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation［J］. Proc Natl Acad Sci U S A, 2015,112（25）:7707⁃7712. doi: 10.1073/pnas. 1503491112.
［6］	Miyamoto M, Itoh N, Sawai M, et al. Severe skin permeability barrier dysfunction in knockout mice deficient in a fatty acid ω⁃hydroxylase crucial to acylceramide production［J］. J Invest Dermatol, 2020,140（2）:319⁃326.e4. doi: 10.1016/j.jid.2019.07. 689.
［7］	Hotz A, Bourrat E, Küsel J, et al. Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis［J］. Hum Mutat, 2018,39（10）:1305⁃1313. doi: 10.1002/humu. 23594.

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An infant with lamellar ichthyosis induced by CYP4F22 gene mutations

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