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• W4366171925 abstract "Self-healing collodion baby (SHCB), also called “self-improving collodion baby”, is a rare mild variant of autosomal recessive congenital ichthyosis and is defined as a collodion baby who shows the nearly complete resolution of scaling within the first three month to one year of life. However, during the neonatal period, it is not easy to distinguish SHCB from other inflammatory forms of autosomal recessive congenital ichthyosis, such as congenital ichthyosiform erythroderma. Here, we report two Japanese SHCB patients with compound heterozygous pathogenic variants, c.235G>T (p.(Glu79*))/ c.1189C>T (p.(Arg397Cys)) and c.1295A>G (p.(Tyr432Cys))/ c.1138delG (p.(Asp380Thrfs*3)), in CYP4F22, which encodes cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22). Immunohistochemically, inflammation with the strong expression of IL-17C, IL-36γ and TNF-α was seen in the skin at birth. CYP4F22 is an ultra-long-chain fatty acid (FA) ω-hydroxylase responsible for acylceramide production. Among the epidermal ceramides, acylceramide is a key lipid in maintaining the epidermal water barrier function. The levels of ceramides with ω-hydroxy FAs including acylceramides and the levels of covalently protein-bound ceramides were much lower in stratum corneum samples obtained by tape stripping from the patients than in those from their unaffected parents and normal controls. A cell-based enzyme assay revealed that two mutants, p.(Glu79*) and p.(Arg397Cys), had no enzyme activity. Our findings, in combination with previous reports, suggest that genetic testing coupled with non-invasive ceramide analyses using tape-stripped stratum corneum samples is useful for the early and precise definite diagnosis of congenital ichthyoses, including SHCB." @default.
• W4366171925 created "2023-04-19" @default.
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• W4366171925 date "2023-05-01" @default.
• W4366171925 modified "2023-09-28" @default.
• W4366171925 title "700 Ceramide analysis in combination with genetic testing is useful in diagnosing self-healing collodion babies" @default.
• W4366171925 doi "https://doi.org/10.1016/j.jid.2023.03.709" @default.
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