Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency

A 3-year-old Caucasian male with X-linked steroid sulfatase deficiency presented with ichthyosis, seizures, retinitis pigmentosa, poor dentition, and a unique banding pattern on polarized hair microscopic examination. The patient also had unilateral polymicrogyria, a brain malformation, as revealed by MRI, which had not been previously reported in association with this condition. The hair banding pattern observed is not specific to steroid sulfatase deficiency but may aid in diagnosis. The patient's condition was confirmed by a microarray that identified a typical 1.5-Mb deletion in the steroid sulfatase gene. This case expands the spectrum of clinical features associated with steroid sulfatase deficiency to include neurological abnormalities and distinct hair microscopy findings.