Steroid sulfatase deficiency is a cause of X-linked ichthyosis; however, our patient also had retinitis pigmentosa, seizures, and abnormal hair findings.
The presence of abnormal hair with a banding pattern on polarized microscopy may be helpful for diagnosis; however, this pattern is not specific to this disease.
In addition, to our knowledge, the presence of a malformation of cortical development has not been previously reported in patients with steroid sulfatase deficiency.
2012-01-17
Eng.
Archives of dermatology
Division of Dermatopathology and Department of Pathology, Duke University Medical Center, DUMC 3712, Durham, NC 27710, USA. Puja.Puri [at] duke.edu
Arch Dermatol. 2012 Jan;148(1):73-8
© Galenicom 1999-2013