research First Symposium of Ichthyosis Experts
Experts met to improve care for ichthyosis patients in Spain.
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research Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Exploring machine learning strategies for single-cell transcriptomic analysis in wound healing
Machine learning and single-cell analysis improve understanding and treatment of wound healing.
research Intracrine androgen biosynthesis, metabolism and action revisited
The document concludes that blocking the internal pathways that create androgens might help treat cancers that depend on sex hormones.
research Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Early detection and biotin treatment improve outcomes for biotinidase deficiency.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research Role of FGFR2-signaling in the pathogenesis of acne
Increased FGFR2b signaling, influenced by androgens, plays a role in causing acne.
research Methotrexate for maintenance of remission in ulcerative colitis
Methotrexate is not proven to maintain remission in ulcerative colitis.
research Oxidative DNA Damage Accelerates Skin Inflammation in Pristane-Induced Lupus Model
Loss of OGG1 increases skin inflammation and auto-antibodies in lupus.
research Genetic Basis of Alopecia Areata
More research is needed to understand the genetic causes of Alopecia areata to develop better treatments.
research Role of Phenylalanine and Its Metabolites in Health and Neurological Disorders
Phenylalanine may help with depression but can cause issues if not properly processed.
research Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data
Hair greying is mainly influenced by age, with genetics playing a smaller role.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Skin Development and Disease: A Molecular Perspective
Understanding molecular processes in skin development is key to creating targeted treatments for skin disorders.
research Evidence on Hidradenitis Suppurativa as an Autoinflammatory Skin Disease
Hidradenitis suppurativa is linked to autoinflammation and immune system issues.
research Forensic DNA phenotyping: a review on SNP panels, genotyping techniques, and prediction models
Forensic DNA phenotyping faces challenges like inconsistent terms and limited genetic knowledge.
research Update on polycystic ovary syndrome
The 2018 guideline for PCOS suggests new diagnostic criteria and treatments, but recognizes the need for more research.
research Identification of Beta-Sitosterol and Stigmasterol as Possible Inhibitors of 5 Alpha-Reductase 1: An In-Silico Study
Beta-sitosterol and stigmasterol might help prevent hair loss by blocking a specific enzyme.
research TRPV3 Ion Channel: From Gene to Pharmacology
The TRPV3 ion channel is important for skin and hair health and could be a target for treating skin conditions.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Exploring Hirsutism: Epidemiology, Associated Endocrinal Abnormalities, and Societal Challenges in GCC—A Narrative Review
Hirsutism in GCC countries is influenced by genetics, obesity, and lifestyle, with cultural stigma delaying treatment, highlighting the need for tailored health strategies.
research The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research Understanding Type 3 Innate Lymphoid Cells and Crosstalk with the Microbiota: A Skin Connection
Type 3 Innate Lymphoid Cells help maintain skin health and balance, and are involved in skin diseases and healing.
research Molecular Aspects of Polycystic Ovarian Syndrome in Female Population in Karnataka at the Southwestern Region of India
PCOS in women from Karnataka is influenced by genetics, family history, and insulin resistance, requiring better diagnosis and treatment.
research Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review
Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
research Effects of Androgen Treatment on Growth in Patients with 5-α-Reductase Type 2 Deficiency
Androgen treatment with dihydrotestosterone may help maintain height in patients with 5-α-reductase type 2 deficiency, especially before puberty.
research Challenges, Progress, and Prospects of Developing Therapies to Treat Autoimmune Diseases
More precise, personalized therapies are needed for autoimmune diseases.
research Unraveling the ECM-Immune Cell Crosstalk in Skin Diseases
Abnormal ECM and immune cell interactions can cause skin diseases.