An infant with lamellar ichthyosis induced by CYP4F22 gene mutations / 中华皮肤科杂志

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.