Identification of a novel TSC1 gene variant in a patient with atypical vitiligo ‐like skin lesions: Unveiling the hidden tuberous sclerosis complex
ConclusionThe detection of this novel pathogenicTSC1 variant in the patient with atypical vitiligo-like skin lesions enrolled in our study ultimately resulted in the diagnosis of TSC. As a result, our study contributes to expanding the mutational spectrum of theTSC1 gene and refining the genotype –phenotype map of TSC. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 5, 2024 Category: Genetics & Stem Cells Authors: Linli Liu,
Yanbo Wang,
Zhengzhong Zhang,
Chunshui Yu,
Jin Chen Tags: CLINICAL REPORT Source Type: research
Eruptive Cherry Angiomas After Nitrogen Mustard Treatment for Vitiligo
Clin Cosmet Investig Dermatol. 2024 Feb 28;17:477-481. doi: 10.2147/CCID.S446781. eCollection 2024.ABSTRACTA 43-year-old male was diagnosed with vitiligo and had been treated with topical nitrogen mustard at the age of 13. Following two years of treatment, eruptive cherry angiomas developed and presented as widely distributed red papules throughout his trunk and proximal limbs. Ceasing the use of nitrogen mustard slowed the emergence of lesions. This case highlights the potential adverse effects associated with nitrogen mustard treatment in individuals with susceptibility, as it may lead to the onset of eruptive cherry ang...
Source: Clinical, Cosmetic and Investigational Dermatology - March 4, 2024 Category: Dermatology Authors: Huiying Wang Ruzhi Zhang Source Type: research
Autoimmune comorbidity in type 1 diabetes and its association with metabolic control and mortality risk in young people: a population-based study
Conclusions/interpretationTo our knowledge, this is the first comprehensive study where young individuals with type 1 diabetes were followed regarding development of a wide spectrum of autoimmune diseases, from onset of type 1 diabetes. In this nationwide and population-based study, there was already a high prevalence of autoimmune diseases in childhood, especially coeliac and thyroid disease. The presence of autoimmune comorbidity did not have a statistically significant effect on metabolic control or mortality risk.Graphical Abstract (Source: Diabetologia)
Source: Diabetologia - March 4, 2024 Category: Endocrinology Source Type: research
Vitiligo is associated with new-onset osteoporosis: a retrospective cohort study
(Source: Archives of Dermatological Research)
Source: Archives of Dermatological Research - March 1, 2024 Category: Dermatology Source Type: research
High α-diversity of skin microbiome and mycobiome in Japanese patients with vitiligo
Vitiligo is an acquired pigmentary disorder characterized by depigmented patches on the skin that majorly impact patients' quality of life. Although its etiology involves genetic and environmental factors, the role of microorganisms as environmental factors in vitiligo pathology remains under-researched. (Source: Journal of Dermatological Science)
Source: Journal of Dermatological Science - February 29, 2024 Category: Dermatology Authors: Yasutaka Kuroda, Lingli Yang, Takakazu Shibata, Masahiro Hayashi, Yuta Araki, Makiko Nishida, Takeshi Namiki, Teruhiko Makino, Tadamichi Shimizu, Tamio Suzuki, Tetsuya Sayo, Yoshito Takahashi, Daisuke Tsuruta, Ichiro Katayama Tags: Original Article Source Type: research
Oxidative stress-induced hypermethylation and low expression of ANXA2R: novel insights into the dysfunction of melanocytes in vitiligo
Vitiligo is a skin disorder with melanocyte destruction caused by complex interplay between multiple genetic and environmental factors. Recent studies have suggested DNA methylation is involved in the melanocyte damage, but the underlying mechanism remains unknown. (Source: Journal of Dermatological Science)
Source: Journal of Dermatological Science - February 28, 2024 Category: Dermatology Authors: Jiaxi Chen, Yinghan Wang, Wei Dai, Xinyuan Xu, Qingrong Ni, Xiuli Yi, Pan Kang, Jingjing Ma, Lili Wu, Chunying Li, Shuli Li Tags: Original Article Source Type: research
VKH with APECED in a Two-Year-Old Child: A Rare Concomitant Diagnosis in an Unprecedented Age
CONCLUSION: APECED is a rare endocrine disorder and has been reported to be associated with VKH twice. Likewise, VKH is commonly present in much older patients; this is the first time ever to be diagnosed in a two-year-old child.PMID:38412247 | DOI:10.1080/09273948.2023.2208212 (Source: Ocular Immunology and Inflammation)
Source: Ocular Immunology and Inflammation - February 27, 2024 Category: Allergy & Immunology Authors: Lameece Moustafa Hassan Mona M Hassan Hend Abou Shady Dina Khedr Source Type: research
GSE256271 Vitiligo non-responding lesions to narrow band UVB have intriguing cellular and molecular abnormalities that may prevent epidermal repigmentation
Contributors : Stanca A Birlea ; Nathaniel B GoldsteinSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensWe have discovered that human vitiligo patients treated with narrow-band UVB (NBUVB) demonstrated localized resistance to repigmentation in skin sites characterized by distinct cellular and molecular pathways. We used the remaining slides from our immunostaining studies. 1.0 mm2 epidermal scrapes were collected from formalin fixed paraffin embedded (FFPE) transverse sections of biopsies from four paired responding and non-responding vitiligo lesions (8 samples total), following publis...
Source: GEO: Gene Expression Omnibus - February 27, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
