Disease relevance of Ichthyosis, X-Linked

• This interval is known to contain the loci for the diseases X-linked ichthyosis, chondrodysplasia punctata, and Kallmann syndrome, as well as the cell-surface markers Xg and 12E7 [1].
• Ocular albinism of the Nettleship-Falls type (OA1) and X-linked ichthyosis (XI) due to steroid sulfatase (STS) deficiency are cosegregating in three cytogenetically normal half-brothers [2].
• More on X-linked ichthyosis, steroid sulfatase deficiency, and hypogonadism and anosmia [3].
• One recently described example of a lipid abnormality in ichthyosis is absence of the enzyme steroid sulfatase in recessive X-linked ichthyosis (RXLI) [4].
• We evaluated Tob expression in normal skin, oral mucosa and different diseases, such as psoriasis, X-linked ichthyosis and squamous cell carcinoma (SCC) [5].

Psychiatry related information on Ichthyosis, X-Linked

• A male patient carrying an interstitial deletion in Xp22.3 and affected by Kallmann syndrome, X-linked ichthyosis and mental retardation, but without chondrodysplasia punctata or short stature, was investigated with molecular probes from the distal Xp22.3 region [6].

High impact information on Ichthyosis, X-Linked

• The skin is also an important site of STS activity, and deficiency of this enzyme is associated with X-linked ichthyosis [7].
• Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis [8].
• The pathological scaling in recessive x-linked ichthyosis is associated with accumulation of abnormal quantities of cholesterol sulfate in stratum corneum (J. Clin. Invest. 68:1404-1410, 1981) [8].
• In contrast, in recessive x-linked ichthyosis, degradation of cholesterol sulfate does not occur and cholesterol sulfate accumulates specifically in the stratum corneum, where it produces visible scale [8].
• In both normal and in recessive x-linked ichthyosis stratum corneum, cholesterol sulfate appeared primarily within membrane domains, paralleling the pattern of steroid sulfatase localization [8].

Chemical compound and disease context of Ichthyosis, X-Linked

• Plasma cholesterol sulfate concentration is increased in patients with recessive X-linked ichthyosis, a disease in which steroid sulfatase activity is absent [9].
• Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis [10].
• Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency) [11].
• Recessive x-linked ichthyosis: role of cholesterol-sulfate accumulation in the barrier abnormality [12].
• Low maternal serum unconjugated estriol during prenatal screening as an indication of placental steroid sulfatase deficiency and X-linked ichthyosis [13].

Biological context of Ichthyosis, X-Linked

• Cloned fibroblasts from women heterozygous for X-linked ichthyosis (steroid sulfatase deficiency) were examined to see whether or not this locus is subject to X-inactivation [14].
• Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis [15].
• The gene responsible for the X-linked KS has been localized to the terminal part of the X-chromosome short arm (Xp22.3 region), immediately proximal to the steroid sulfatase gene responsible for X-linked ichthyosis [16].
• In this study we report the fourth partial deletion of the STS gene and the first spanning exons 2-10 in X-linked ichthyosis patients [17].
• Mosaicism for the steroid sulfatase gene has not yet been reported in X-linked ichthyosis [18].

Anatomical context of Ichthyosis, X-Linked

• Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis [19].
• To develop an experimental model for somatic gene therapy we have tried to correct the steroid sulfatase (STS) deficiency in tissue-cultured primary epidermal keratinocytes from patients suffering from recessive X-linked ichthyosis [20].
• Gas-chromatographic determination of cholesterol sulfate in plasma and erythrocytes, for the diagnosis of recessive X-linked ichthyosis [21].
• The gene locus for steroid sulfatase, deficiency of which causes X-linked ichthyosis, is assigned to Xp11 leads to Xpter by analysis of 24 man-Chinese hamster somatic cell hybrids [22].
• Steroid sulphatase activity in peripheral blood lymphocytes was assayed in all available members of three families in which cases of X-linked ichthyosis were frequently seen [23].

Gene context of Ichthyosis, X-Linked

• Studies have shown that aberrant recombination between arrays of CRI-S232-homologous repeats flanking the steroid sulfatase ( STS ) gene results in STS deletion, which is manifested clinically as X-linked ichthyosis [24].
• The revelation that CRI-S232 contains VCX offers a more precise description of the genetic etiology of X-linked ichthyosis: it results from aberrant recombination between VCX gene arrays that flank the STS locus [24].
• Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation [25].
• A family with an obstetric history consistent with placental sulfatase deficiency has X-linked ichthyosis [26].
• The present method allowed us to distinguish recessive X-linked ichthyosis (RXLI) very easily from ichthyosis vulgaris (IV) by the size and gradation of clearly visible blue chromogen derived from CS on a TLC plate in RXLI [27].

Analytical, diagnostic and therapeutic context of Ichthyosis, X-Linked

• Diagnosis of recessive X-linked ichthyosis: quantitative HPLC/mass spectrometric analysis of plasma for cholesterol sulfate [28].
• In vitro steroid sulfatase cDNA expression using site-directed mutagenesis revealed that these mutations are in fact pathogenic and reflect the levels of steroid sulfatase enzyme activities in each of the X-linked ichthyosis patients [29].
• X chromosome deletions detectable by flow cytometry in some patients with steroid sulphatase deficiency (X-linked ichthyosis) [30].
• PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene [31].
• Early diagnosis of recessive X-linked ichthyosis: elevation of cholesterol sulfate levels in placental sulfatase deficiency before the onset of skin symptoms [32].

References