Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis.


Recessive X-linked ichthyosis (XLRI, OMIM#308100) is a keratinization disorder due to an error of inborn metabolism and affects roughly 1:2000 to 1:6000 males [1]. Female carriers with few exceptions do not manifest the disease. The clinical manifestations occur early in life and involve generalized dryness and scaling of the skin with polygonal, regular… (More)
DOI: 10.1016/j.jdermsci.2011.03.011


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