Autosomal dominant and X-linked ichthyosis in the same family. Biochemical analysis of steroid sulfatase activity
✍ Scribed by B. Migl; B. Mevorah; C. R. Müller; G. Wolff; E. Frenk
- Book ID
- 119839064
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 153 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0009-9163
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The association of X-linked ichthyosis with a deficiency of steroidsulfatase was demonstrated biochemically in cultured skin fibroblasts and epidermal cells in recent years [9,2]. A simultaneous deficiency of arylsulfatase C in this inborn error was shown histochemically in skin sections by Koppe et
The present study analyzes the frequency of molecular deletions in the steroid sulfatase (STS) encoding gene in a sample of 50 Mexican subjects with biochemical diagnosis of X-linked ichthyosis (XLI). To establish the correct diagnosis, STS activity was determined in leukocytes using 7-3 H-dehydroep
## Abstract We observed a boy with short stature, chondrodysplasia punctata, ichthyosis, and a terminal deletion of Xp. Steroid sulfatase deficiency was demonstrated in the patient's fibroblasts. Molecular analysis showed a deletion of the entire steroid sulfatase gene. This case represents another