Abstract: 【Abstract】 A 26-month-old male child was admitted for hair abnormality after birth. There was no hair growth on the scalp of the child after birth, rough skin and scattered rice-grain-sized follicular papules were observed all over the body, and erythema was seen in the perianal region. Fifteen days after birth, the patient was found to be photophobic. Skin examination showed diffusely distributed rice-grain-sized follicular papules all over the body, no growth of hair, eyelashes or eyebrows, and well-circumscribed perianal erythema with scaling at the edges. Genetic testing revealed a c.661T>A mutation in the MBTPS2 gene on the X chromosome of the child, which caused a substitution of phenylalanine by isoleucine at amino acid position 221 （p. Phe221Ile）. A heterozygous mutation at the same locus was identified in the patient′s mother. The patient was diagnosed with ichthyosis follicularis, alopecia, and photophobia syndrome.

Key words: Ichthyosis, Alopecia, Photophobia, DNA mutational analysis, MBTPS2 gene