Alterations in skin hydration, moisture and genomic in adult patients with dry skin conditions following daily oral palm tocotrienol and squalene (STGAIATM) supplementation

开始日期2024-11-04

申办/合作机构

Monash University Malaysia Sdn. Bhd.

[+1]

CTRI/2024/06/069649 / Not yet recruitingN/AIIT

Single arm clinical study to evaluate role narikel tail padabhyanga as upakram in dincharya to prevent seasonal padadari w.r.t. to hemant rutu. - NIL

开始日期2024-07-03

申办/合作机构-

TCTR20240606006 / Not yet recruiting临床1期IIT

The Effectiveness of Traditional Acehnese Coconut Oil as a Moisturizer in Patients with Xerosis Cutis at Dr. Zainoel Abidin Regional General Hospital

开始日期2024-07-01

申办/合作机构-

100 项与皮肤脂肪变性相关的临床结果

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100 项与皮肤脂肪变性相关的转化医学

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0 项与皮肤脂肪变性相关的专利（医药）

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170

项与皮肤脂肪变性相关的文献（医药）

2024-10-17·British Journal of Dermatology

A gain-of-function variant in SREBF1 causes generalized skin hyperpigmentation with congenital cataracts

Article

作者: Liang, Lina ; Wu, Yuan ; Huang, Shimiao ; Wang, Zhaoyang ; Bassetti, Jennifer A ; Oza, Vikash S ; McGivern, Bobbi ; Lin, Zhimiao ; Peng, Sha ; Rangu, Sneha A ; Wang, Huijun ; Xu, Zigang ; Gong, Zhuoqing

AbstractBackgroundLipid metabolism has essential roles in skin barrier formation and the regulation of skin inflammation. Lipid homeostasis regulates skin melanogenesis, although the underlying mechanism remains largely unknown. Sterol regulatory element binding protein 1 (SREBP-1) is a key transcription factor essential for cellular lipid metabolism. Loss-of-function variants in SREBF1 are responsible for autosomal-dominant ichthyosis follicularis, alopecia and photophobia syndrome, emphasizing the significance of lipid homeostasis in skin keratinization.ObjectivesTo identify the genetic basis of a new entity featuring diffuse skin hyperpigmentation with congenital cataracts, and to unravel the underlying mechanism for the pathogenesis of the SREBF1 variant.MethodsWhole-exome sequencing was performed to identify underlying genetic variants. Quantitative polymerase chain reaction, Western blot and immunofluorescence staining were used to assess the expression and the subcellular localization of the SREBF1 variant. The transcriptional activity of mutant SREBP-1 was determined by a luciferase reporter assay. A transgenic zebrafish model was constructed.ResultsTwo unrelated patients presented with generalized skin hyperpigmentation with skin xerosis, congenital cataracts and extracutaneous symptoms. We identified a de novo nonsense variant c.1289C>A (p.Ser430*) in SREBF1 in both patients. The variant encoded a truncated protein that showed preferential nucleus localization, in contrast to wild-type SREBP-1 which – in sterol-sufficient conditions – is mainly localized in the cytoplasm. The luciferase reporter assay revealed that the p.Ser430* mutant exhibited enhanced transcriptional activity. Cultured patient primary melanocytes showed increased melanin synthesis vs. those from healthy controls. At 35 days postfertilization, the p.Ser430* transgenic zebrafish model exhibited more black spots, along with upregulated expression of melanogenic genes.ConclusionsWe demonstrated that a gain-of-function variant of SREBF1 causes a previously undescribed disorder characterized by generalized skin hyperpigmentation and congenital cataracts. Our study reveals the involvement of SREBP-1 in melanogenesis and lens development, and paves the way for the development of novel therapeutic targets for skin dyspigmentation or cataracts.

2024-10-01·Skin Research and Technology

Comprehensive Assessment of Dermatologic and Dysmorphic Manifestations in Patients With Down Syndrome

Article

作者: Alavanda, Ceren ; Kaya, Gökhan

ABSTRACTBackgroundDown syndrome (DS), a common chromosomal anomaly caused by trisomy of chromosome 21, is characterized by a broad spectrum of phenotypic characteristics across multiple organ systems, including cardiac defects and leukemia. Dermatological findings are prevalent among individuals with DS; however, these issues are frequently underrecognized and inadequately researched, resulting in a significant gap in the provision of comprehensive healthcare strategies. Given the increased life expectancy of patients with DS and delayed manifestation of many dermatoses, physicians are increasingly encountering dermatological findings in this population.ObjectiveThis study aimed to assess the prevalence and types of dermatological findings in individuals with DS, compare them with those in a control group, and emphasize the necessity of incorporating dermatological evaluations into routine health monitoring.MethodsThis prospective cross‐sectional study was conducted from June 2023 to June 2024 and involved 100 genetically confirmed individuals with DS and 100 age‐ and sex‐matched controls. Comprehensive demographic, clinical, and karyotype data were collected for the DS group, and all the participants underwent detailed morphological evaluations.ResultsThe DS group had a mean age of approximately 6.37 years, whereas the controls were around 7 years old, with no significant differences in age or sex distribution between the groups. Karyotype analysis showed that trisomy 21 was present in 92% of the cases, mosaicism in 6%, and translocation in 2%. Common dermatological findings in the DS group included xerosis cutis (49%), thin and sparse hair (48%), dental caries (34%), delayed tooth eruption (28%), nail dystrophy (25%), fissured tongue (23%), and cheilitis (18%). Significant differences were noted in the prevalence of scabies, bacterial infections, and café au lait macules between the DS and control groups (p < 0.01). Dysmorphic findings in the DS group included epicanthal folds (97%), upslanted palpebral fissures (97%), brachycephaly (91%), and single transverse palmar crease (89%). Significant gender differences were noted in the prevalence of brachycephaly and the sandal gap (p < 0.01).ConclusionsThis study highlights the importance of regular dermatological care in enhancing the health management and quality of life of individuals with DS due to the prevalence and variability of dermatological conditions.

2024-10-01·Skin Health and Disease

Explicating the multifunctional roles of tocotrienol and squalene in promoting skin health

Review

作者: Bhuvanendran, Saatheeyavaane ; Magalingam, Kasthuri Bai ; Arumugam, Mohan ; Radhakrishnan, Ammu Kutty ; Jamil, Adawiyah ; Morgan, Nevvin Raaj

AbstractThe skin is the largest organ in the integumentary system, protecting against various external threats, including ultraviolet exposure, heat, infections, dehydration and mechanical injuries. Skin disorders can arise from various causes, including allergic reactions or breaches in the skin barrier, which allow microorganisms or chemicals to penetrate the sweat ducts. These conditions encompass a wide range of issues, including acne, xerosis (dry skin), fungal infections, atopic dermatitis (eczema) and psoriasis. Collectively, these ailments affect a significant portion of the global population, impacting approximately one‐third of people worldwide. Additionally, oxidative stress induced by ageing and prolonged exposure to ultraviolet rays can manifest in visible alterations such as pigmentation, wrinkling and dehydration. Recent investigations have underscored the potential of natural antioxidant compounds in safeguarding skin health and combating ageing‐related changes. Tocotrienols, a subgroup of vitamin E, have garnered significant attention owing to their antioxidant and anti‐inflammatory properties. Significant amounts of tocotrienols can be found in rice bran, olive, oats and hazelnuts. Similarly, squalene, predominantly sourced from fish liver oils such as those from sharks, has been used as an emollient in cosmetic formulations. This article offers a comprehensive review of existing literature elucidating the dermatological benefits associated with tocotrienols and squalene, emphasising their roles as antioxidants, anti‐inflammatories, skin barrier protection and facilitators of wound healing. Moreover, it sheds light on contemporary research findings suggesting these compounds' therapeutic promise in managing and ameliorating various skin conditions.