PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Ichthyosis, X-Linked”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 19 recordsLinked to original sources
PubMed2026

X-linked ichthyosis with seizures, ADHD, and autism spectrum disorder: a case report with an uncommon clinical presentation.

INTRODUCTION AND IMPORTANCE: X-linked ichthyosis (XLI) is a genetic condition characterized by scaly skin due to steroid sulfatase (STS) deficiency, often associated with additional neurodevelopmental issues. CASE PRESENTATION: A 10-year-old male child was admitted to the dermatology department. The child had been born prematurely at 26 weeks' gestation with a low birth weight of 1.6 kg. He presented with seizures characterized by abnormal upper-limb movements and was diagnosed with congenital ichthyosis. The child exhibited delayed language and motor development, learning difficulties, microcephaly, and dry, scaly skin, which he habitually peeled and ingested. Genetic analysis (single-nucleotide polymorphism and combined comparative genomic hybridization) revealed a 1.65 Mb deletion on chromosome Xp22.31 affecting the STS gene and other adjacent genes. The patient had low STS enzyme activity (3.5 nmol/hour/protein) in adipose tissue. Neuroimaging showed no structural abnormalities, though an electroencephalogram indicated mild slowing. CLINICAL DISCUSSION: Given the established association between STS deletions and neurodevelopmental as well as psychiatric comorbidities, early recognition of emerging psychiatric features is essential. Given the established association between STS deletions and neurodevelopmental as well as psychiatric comorbidities, early recognition of emerging psychiatric manifestations is essential. Management should follow evidence-based recommendations for first-episode or early psychotic symptoms, emphasizing careful assessment, individualized pharmacological treatment when indicated, and multidisciplinary psychosocial support. Such an approach may improve clinical stabilization while avoiding premature diagnostic labeling. CONCLUSION: This case highlights the importance of early genetic diagnosis and personalized treatment approaches, integrating dermatological, neurological, and psychiatric care to optimize outcomes in XLI.

X-linked ichthyosis↗
PubMed1978

X-linked ichthyosis due to steroid-sulphatase deficiency.

An assay of cultured skin fibroblasts identified several individuals with 3 beta-hydroxysteroid-sulphate sulphatase deficiency. All patients with this inborn error of metabolism had clinically apparent ichthyosis and a family history of this skin disorder compatible with X-linked inheritance. It is concluded that steroid-sulphatase deficiency is the bio-chemical basis of at least some cases of X-linked ichthyosis.

Adult↗
PubMed1979

Estimating sex ratio biases in X-linked disorders: is there an excess of males in families with X-linked ichthyosis?

We derive the conditional probabilities for estimating the sex ratio in families ascertained through affected males for the study of X-linked recessive diseases. These conditional probabilities correct for the fact that the probability that a family will be ascertained increases with the number of males in the family. Data from four published studies for X-linked ichthyosis vulgaris are analyzed, three having an excess of males and one having a highly statistically significant excess of males. It is not known if this difference in the two samples represents a biological difference between the two populations or an unrecognized ascertainment bias.

Female↗
PubMed1979

X-linked ichthyosis: a metabolic disease.

Sex-linked ichthyosis, a rather common genodermatosis, has recently been linked with deficiency of the enzyme steroid sulfatase. Data supporting this association and suggesting that alterations in lipid metabolism may cause abnormal keratinization are herein reviewed.

Chemical Phenomena↗
PubMed1978

Enzymatic basis of typical X-linked icthyosis.

Steroid sulphatase activity was determined in cultured fibroblasts from 25 individuals with X-linked ichthyosis from four countries. All those with X-linked disease had markedly reduced enzyme levels compared with controls and patients with other types of ichthyosis. X-linked ichthyosis seems to be the result of a common mutation affecting the expression of steroid-sulphatase activity.

Adult↗
PubMed1979

Enzyme histochemistry of the small intestine in inherited ichthyosis.

Enzyme histochemistry of biopsies from the small intestine of 5 patients with different forms of inherited ichthyosis and of 2 normal volunteers was performed. Two of the patients had ichthyosis vulgaris, two had non-bullous congenital ichthyosiform erythroderma and one had X-linked ichthyosis. The following enzymatic activities were examined: G6P-D, 6PG-D, NADPH2-TR, ALD-A, L-D, C-A, IC-D, S-D, M-D, NADH2-TR, ATP-AI, ATP-A II, ATP-A III, ATP-A IV, R5P-A, DHO-D, alphaGP-D, betaHOB-D, MAO, GL-D alphaGP-A I, alphaGP-A II, betaGP-A II, N.EST-A. No significant variations in the different enzymatic activities were found for the ichthyosis vulgaris and non-bullous C.I.E. cases. More pronounced variations were found in X-linked ichthyosis, with a decrease in C-A, IC-D, R5P-A, betaHOB-D, GL-D, alphaGP-A II and N.EST-A activity. Succinic dehydrogenase activity has been reported in the literature to be reduced in ichthyosis vulgaris and bullous C.I.E. However, the results obtained for our patients showed equal or higher reaction levels than in the controls.

Histocytochemistry↗
PubMed1978

Oral treatment of ichthyosis with an aromatic retinoid.

An aromatic retinoid (Ro-10/9359) was used for oral treatment of five cases of ichthyosis (three lamellar, two X-linked. Complete clearing of the skin lesions was achieved in all five patients within 24.2 +/- 3.2 days (X-linked 21.75 +/- 6.5, lamellar 23 days). Histopathology showed reduction of the hyperkeratosis, and thickening of the granular layer. Clinical side effects were of mild intensity and included cheilitis, conjunctivitis and pruritus. All side effects were reversible upon reduction of the daily dosage. In three patients treatment was discontinued after clearing of lesions. Fresh lesions re-appeared 6 weeks later. One patient with X-linked ichthyosis developed two recurrences during maintenance treatment; one patient with lamellar ichthyosis was kept in complete remission for 9 weeks on a reduced daily dosage.

Adolescent↗
PubMed1979

Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome.

The expression of steroid sulfatase (SS; sterol-sulfatase; sterol-sulfate sulfohydrolase, EC 3.1.6.2), a microsomal enzyme that catalyzes the hydrolysis of a variety of 3beta-hydroxysteroid sulfates, was evaluated in mouse-human hybrid clones. The mouse parental line, A9, was found to have little SS as determined by activity measurements. Human SS can be separated from mouse SS by electrophoresis. Two human fibroblast lines, one carrying an X/13 translocation [46,X,t(X;13)(p22;q12)] and the other carrying an X/20 translocation [46,X,t(X;20)(Xp20q;Xq20p)] were used as the human parental lines. Several independently derived hybrid clones from each of the two fusion experiments were analyzed for the expression of human SS by activity measurements and electrophoresis. Cytogenetic analyses were done on these hybrid clones at the same passage level. The results showed that the expression of human SS in these cell hybrids was concordant only with the presence of the distal half (p22-->pter) of the short arm of the human X chromosome, thus assigning the locus for SS to Xp22-->Xpter. Earlier studies have shown that the deficiency of SS is the basis for the dermatologic condition X-linked ichthyosis, the gene for which is known to be located approximately 10 centimorgans from the Xg blood group locus. The localization of SS on the X chromosome indicates that Xg locus may be on the short arm of X and possibly on its distal half. The Xg locus is thought to escape X-inactivation in man, and recent investigations suggest that the SS locus also escapes X-inactivation. Our results thus provide evidence for the location of an apparently noninactivated site on the distal half of the short arm of the human X-chromosome that contains the locus for SS and possibly the Xg locus.

Chromosome Mapping↗
PubMed1979

Non-inactivation of an x-chromosome locus in man.

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. Of 103 clones examined, all had normal levels of steroid sulfatase activity. Two of the women studied were also heterozygous for glucose-6-phosphate dehydrogenase deficiency. This allowed the demonstration that both X chromosomes were represented as the active X in various clones and that selection did not account for these findings. Thus, the steroid sulfatase locus, like the Xga locus to which it is linked, appears to escape X-inactivation in man.

Dehydroepiandrosterone↗
PubMed1978

X-linked icthyosis. A sulphatase deficiency.

In 3 pregnant women oestrogen excretion in the urine was very low. The pregnancies were otherwise uncomplicated and the 3 infants, boys, were normal at birth, but later developed ichthyosis of the X-linked inherited type. Histochemically, the placenta in each case showed deficiency in arylsulphatase-type C activity. In all three children the skin showed the same enzyme deficiency. In the skin of 9 other unrelated (adult) patients with proved X-linked inherited ichthyosis vulgaris, arylsulphatase C activity was deficient. Skin from 5 normal adults and 5 normal children showed arylsulphatase C activity to be present. It is concluded that a sulphatase deficiency is a factor in the causation of ichthyosis of the X-linked inherited type.

Adult↗
PubMed1978

Ichthyosis vulgaris showing features of the autosomal dominant and X-linked recessive variants in the same family.

A family in which the mother and six of her sons present an ichthyosis of the vulgaris type has been analysed clinically, histologically and electron microscopically. Phenotypically the ichthyosis in the mother is purely of the dominant type, while that in all the affected sons shows, to varying degrees, features of both the dominant and X-linked recessive variants. The findings are interpreted as reasonably good evidence that the mother has transmitted to all her affected sons both the autosomal dominant and the X-linked recessive genes for ichthyosis. Although genetically this is a most unusual situation, it corresponds best to our findings.

Adolescent↗