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X-linked ichthyosis


Definition: a form of ichthyosis, with onset at birth or in early infancy and affecting males; characterized by scaling predominantly on the scalp, neck, and trunk that progresses centripetally; the palms and soles are spared; histologic manifestations are hyperkeratosis, a granular layer in the epidermis, and normal epidermal cell turnover; X-linked recessive inheritance, caused by mutation in the steroid sulfatase gene (STS) on Xp.

Synonym(s): steroid sulfatase deficiency

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.