CYP4F22基因突变致板层状鱼鳞病一例

【摘要】 患儿男，1月龄，出生时全身皮肤潮红，表面覆火棉胶样膜，之后全身逐渐脱屑，2个月时火棉胶样膜完全脱落，鳞屑明显，皮肤干燥。皮肤科检查：全身皮肤干燥，前胸残留紧张、有光泽且透明的塑料封皮样膜，躯干、头皮可见大片状、白色的盘状鳞屑，呈镶嵌状，鳞屑中央黏着，边缘游离。测序结果显示，患儿存在CYP4F22基因复合杂合突变，即父源突变c.1137 G>A（p.W379X）和母源突变c.467 G>A（p.R156H）。诊断：板层状鱼鳞病。

An infant with lamellar ichthyosis induced by CYP4F22 gene mutations

【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.