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Diagnostic Confirmation of X-linked Recessive Ichthyosis by Fluorescent in Situ Hybridization-A Case Report
Chiu-Yen Ho, Kuo-Chia Yang , Ming Chen, Shun-Ping Chang, Pao-Lun Yin
Dermatol Sinica 25 : 35-42, 2007

X linked ichthyosis is a hereditary genetic disorder resulting in abnormal turnover of the epidermis. The majority of patients are males who inherit a defective maternal X-chromosome. Clinically, patients present with varying degrees of generalized desquamation. Other extra-cutaneous manifestations include corneal opacities and crypto-orchidism. We report a 32 year-old male patient who came to our clinic with the presentation of generalized desquamation combined with polygonal, brown scales on the extensor aspects of his extremities since birth. The deletion of the steroid sulphatase gene at Xp22.3-pter was detected by fluorescent in situ hybridization analysis with steroid sulphatase probe. Fluorescent in situ hybridization and pedigree analysis confirmed the diagnosis of X-linked recessive ichthyosis.

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