まれな皮膚疾患における精神疾患と心臓疾患のリスク増加を特定するための新しいガイドライン(New guidelines for identifying increased risk of psychological and heart conditions in rare skin condition)

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2025-05-28 カーディフ大学

カーディフ大学の研究により、稀な遺伝性皮膚疾患「X連鎖性魚鱗癬(XLI)」の患者が、神経発達障害や気分障害、さらには心房細動などの不整脈を含む心疾患のリスクが高いことが明らかになりました。この発見を受け、2024年の国際診療ガイドラインが改訂され、皮膚科医による精神疾患および心疾患のスクリーニングが推奨されるようになりました。研究チームは、XLI患者の最大35%が不整脈を経験する可能性があると指摘し、早期の診断と介入の重要性を強調しています。この成果は、XLI患者に対する包括的な医療提供の向上に寄与するものと期待されています。

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先天性魚鱗癬の管理:診療ガイドライン: 第2部:2024年最新版 Management of congenital ichthyoses: guidelines of care: Part two: 2024 update

Juliette Mazereeuw-Hautier , Amy S Paller , Edel O’Toole , Isabelle Dreyfus , Christine Bodemer , Masashi Akiyama , Andrea Diociaiuti , Maya El Hachem , Judith Fischer , Rogelio Gonzalez-Sarmiento …
British Journal of Dermatology  Published:07 April 2025
DOI:https://doi.org/10.1093/bjd/ljaf077

Abstract

In 2019, a group of experts published the first European guidelines for the management of congenital ichthyoses after a multidisciplinary expert meeting held in 2016. An update of these guidelines and literature search was planned every 5 years, given the clinical, molecular and therapeutic advances, including the use of biologic therapies. We present here updated guidelines that have been developed by a reorganized multidisciplinary group of international experts after a systematic review of recent literature, discussions and consensus reached at an expert conference held in June 2023. The guidelines provide summarized evidence and expert-based recommendations that aim to guide clinicians in the management of these rare and often complex diseases. These guidelines consist of two sections. Part one is reported elsewhere. Here, Part two covers the management of complications (eye, ear–nose–throat, pruritus, pain, cutaneous infections, vaccinations, growth failure and nutritional deficiency, hair and nail anomalies, reaction to hot and cold climates, physical limitations, comorbidities) and the particularities of the neonatal period and Netherton syndrome.

 

英国バイオバンクにおけるX連鎖性魚鱗癬関連遺伝子欠失保因者の医学的および神経行動学的表現型 Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank

Lucija Brcic,FG Underwood,Kimberley M Kendall,Xavier Caseras,George Kirov,William Davies
Journal of Medical Genetics  Published March 5, 2020
DOI:https://doi.org/10.1136/jmedgenet-2019-106676

Abstract

Background X-linked ichthyosis (XLI) is an uncommon dermatological condition resulting from a deficiency of the enzyme steroid sulfatase (STS), often caused by X-linked deletions spanning STS. Some medical comorbidities have been identified in XLI cases, but small samples of relatively young patients has limited this. STS is highly expressed in subcortical brain structures, and males with XLI and female deletion carriers appear at increased risk of developmental/mood disorders and associated traits; the neurocognitive basis of these findings has not been examined.

Methods Using the UK Biobank resource, comprising participants aged 40–69 years recruited from the general UK population, we compared multiple medical/neurobehavioural phenotypes in males (n=86) and females (n=312) carrying genetic deletions spanning STS (0.8–2.5 Mb) (cases) to male (n=190 577) and female (n=227 862) non-carrier controls.

Results We identified an elevated rate of atrial fibrillation/flutter in male deletion carriers (10.5% vs 2.7% in male controls, Benjamini-Hochberg corrected p=0.009), and increased rates of mental distress (p=0.003), irritability (p<0.001) and depressive-anxiety traits (p<0.05) in male deletion carriers relative to male controls completing the Mental Health Questionnaire. While academic attainment was unaffected, male and female deletion carriers exhibited impaired performance on the Fluid Intelligence Test (Cohen’s d≤0.05, corrected p<0.1). Neuroanatomical analysis in female deletion carriers indicated reduced right putamen and left nucleus accumbens volumes (Cohen’s d≤0.26, corrected p<0.1).

Conclusion Adult males with XLI disease-causing deletions are apparently at increased risk of cardiac arrhythmias and self-reported mood problems; altered basal ganglia structure may underlie altered function and XLI-associated psychiatric/behavioural phenotypes. These results provide information for genetic counselling of deletion-carrying individuals and reinforce the need for multidisciplinary medical care.

医療・健康
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