Frequency of X-Linked Ichthyosis in Coastal Southern Italy: A Study on a Representative Sample of a Young Male Population

Ingordo, Vito; D’Andria, Giuliano; Gentile, C; Decuzzi, M.; Mascia, Enrico; Naldi, Luigi

doi:10.1159/000071784

Cited by 11 publications

(6 citation statements)

References 3 publications

(3 reference statements)

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“…XLI is a relatively common disorder of keratinization with an estimated worldwide frequency of 1 in every 2000-6000 male births. In a recent study, the frequency of XLI was examined in a large representative sample of the Southern Italian male population and found to be 1.98 per 10,000 males (8).…”

Section: Discussionmentioning

confidence: 99%

Topical Tazarotene 0.05% versus Glycolic Acid 70% Treatment in X-linked Ichthyosis due to Extensive Deletion of the STS Gene

Cotellessa¹,

Cuevas-Covarrubias²,

Valeri³

et al. 2005

Acta Dermato-Venereologica

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Sir, X-linked ichthyosis (XLI) appears in the immediate neonatal period as a generalized large, slightly adherent, lightly coloured desquamation commonly affecting the scalp, preauricular area and posterior neck (1). In time, large, often dark scales, preferentially located on the trunk and extensor aspect of the extremities, become prominent. The palms, soles and face are generally spared (1). Cutaneous histopathological findings of XLI are not diagnostic, being characterized by orthokeratotic hyperkeratosis and a normal or slightly thickened granular layer. In the dermis, oedema and a slight perivascular inflammatory infiltrate can be observed (1). The most common associated extracutaneous findings include corneal opacities, cryptorchidism, epilepsy and electro-encephalographic changes (1). XLI is caused by deficient activity of the steroid sulphatase (STS) enzyme due, in most patients, to complete or partial deletions of the STS gene mapped on Xp22.3 (2-5). Therapeutic approaches for the treatment of mild to moderate cutaneous manifestations of XLI include keratolytic agents, moisturizers and topical retinoids, while systemic retinoids have been successfully employed in severe forms (6, 7). We describe a 22-year-old man with XLI associated with epilepsy. A within-patient study comparing topical tazarotene 0.05% and glycolic acid 70%

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Section: Discussionmentioning

confidence: 99%

Topical Tazarotene 0.05% versus Glycolic Acid 70% Treatment in X-linked Ichthyosis due to Extensive Deletion of the STS Gene

Cotellessa¹,

Cuevas-Covarrubias²,

Valeri³

et al. 2005

Acta Dermato-Venereologica

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“…Mutations or deletions of the STS gene result in a skin condition called “X-linked ichthyosis” (XLI), which in approximately 80% of cases is due to complete deletions of the STS gene ( 31 , 194 , 195 ). XLI is also termed STS deficiency and represents one of the common inherited metabolic disorders, with 1:6000 live births and no geographical or ethnical variation ( 196 – 198 ).…”

Section: Disease-causing Mutations Affecting Steroid Sulfation Andmentioning

confidence: 99%

The Regulation of Steroid Action by Sulfation and Desulfation

et al. 2015

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Steroid sulfation and desulfation are fundamental pathways vital for a functional vertebrate endocrine system. After biosynthesis, hydrophobic steroids are sulfated to expedite circulatory transit. Target cells express transmembrane organic anion-transporting polypeptides that facilitate cellular uptake of sulfated steroids. Once intracellular, sulfatases hydrolyze these steroid sulfate esters to their unconjugated, and usually active, forms. Because most steroids can be sulfated, including cholesterol, pregnenolone, dehydroepiandrosterone, and estrone, understanding the function, tissue distribution, and regulation of sulfation and desulfation processes provides significant insights into normal endocrine function. Not surprisingly, dysregulation of these pathways is associated with numerous pathologies, including steroid-dependent cancers, polycystic ovary syndrome, and X-linked ichthyosis. Here we provide a comprehensive examination of our current knowledge of endocrine-related sulfation and desulfation pathways. We describe the interplay between sulfatases and sulfotransferases, showing how their expression and regulation influences steroid action. Furthermore, we address the role that organic anion-transporting polypeptides play in regulating intracellular steroid concentrations and how their expression patterns influence many pathologies, especially cancer. Finally, the recent advances in pharmacologically targeting steroidogenic pathways will be examined.

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“…However, the clinical and histological features of the disease were clearly recognized only in 1965 by Wells and Kerr, who also linked it to other markers on X chromosome. Recessive XLI (OMIM #308100) manifests almost exclusively in men and represents the second most common form of ichthyosis with an estimated prevalence ranging from 1:1500 to 1:6000 men worldwide …”

Section: Introductionmentioning

confidence: 99%

X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients

Diociaiuti

Angioni

Pisaneschi

et al. 2018

Experimental Dermatology

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Recessive X-linked ichthyosis (XLI), the second most common ichthyosis, is caused by mutations in the STS gene encoding the steroid sulfatase enzyme. A complete deletion of the STS gene is found in 85%-90% of cases. Rarely, larger deletions involving contiguous genes are detected in syndromic patients. We report the clinical and molecular genetic findings in a series of 35 consecutive Italian male patients. All patients underwent molecular testing by MLPA or aCGH, followed, in case of negative results, by next-generation sequencing analysis. Neuropsychiatric, ophthalmological and paediatric evaluations were also performed. Our survey showed a frequent presence of disease manifestations at birth (42.8%). Fold and palmoplantar surfaces were involved in 18 (51%) and 7 (20%) patients, respectively. Fourteen patients (42%) presented neuropsychiatric symptoms, including attention-deficit hyperactivity disorder and motor disabilities. In addition, two patients with mental retardation were shown to be affected by a contiguous gene syndrome. Twenty-seven patients had a complete STS deletion, one a partial deletion and 7 carried missense mutations, two of which previously unreported. In addition, a de novo STS deletion was identified in a sporadic case. The frequent presence of palmoplantar and fold involvement in XLI should be taken into account when considering the differential diagnosis with ichthyosis vulgaris. Our findings also underline the relevance of involving the neuropsychiatrist in the multidisciplinary management of XLI. Finally, we report for the first time a de novo mutation which shows that STS deletion can also occur in oogenesis.

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Frequency of X-Linked Ichthyosis in Coastal Southern Italy: A Study on a Representative Sample of a Young Male Population

Cited by 11 publications

References 3 publications

Topical Tazarotene 0.05% versus Glycolic Acid 70% Treatment in X-linked Ichthyosis due to Extensive Deletion of the STS Gene

Topical Tazarotene 0.05% versus Glycolic Acid 70% Treatment in X-linked Ichthyosis due to Extensive Deletion of the STS Gene

The Regulation of Steroid Action by Sulfation and Desulfation

X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients

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