research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
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540-570 / 1000+ resultsresearch First Symposium of Ichthyosis Experts
Experts met to improve care for ichthyosis patients in Spain.
research Giant congenital cerebriform pigmented nevus of scalp: case report
Complete removal of large scalp nevi is recommended to prevent complications.
research Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report
A 6-year-old girl had both monilethrix and trichorrhexis nodosa, causing brittle hair, with minimal improvement from treatment.
research Ectodermal Dysplasia: Variable Expressions
Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
research Exploring lncRNA-Mediated Mechanisms in Muscle Regulation and Their Implications for Duchenne Muscular Dystrophy
LncRNAs play a crucial role in muscle regulation and could help develop treatments for Duchenne muscular dystrophy.
research Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review
Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
research Extensive Nevus Comedonicus Along the Lines of Blaschko – Through the Eyes of Dermoscope and Histopathology
Treatment reduced cystic lesions but didn't change existing Nevus Comedonicus.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study
Hair follicle sampling is a practical method for measuring biomarkers in children with and without Fragile X syndrome.
research Mineral Deficiencies: A Root Cause for Reduced Longevity in Mammals
Not getting enough minerals can lead to health problems and shorter lifespans.
research Growth hormone deficiency with late-onset hypothalamic hypoadrenocorticism associated with respiratory and renal dysfunction: a case report
A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
research Junctional Epidermolysis Bullosa, Generalized Intermediate Type
research Role of polymorphism of the androgen receptor gene andnon-random x chromosome inactivation in the pathogenesisof androgenic alopecia
Certain genes and X chromosome patterns may significantly contribute to the development of hair loss.
research European Society of Endocrinology Clinical Practice Guideline: Endocrine work-up in obesity
Test thyroid function in all obese patients and prioritize weight loss for hormonal balance.
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
research Diseases of Hair
research Diseases of Hair
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 Role of janus kinase inhibitors in the treatment of alopecia areata
Janus kinase inhibitors show promise in treating alopecia areata but need better topical formulations.
research Measures of Adult Systemic Lupus Erythematosus: Disease Activity and Damage
Choosing the right tools is crucial for accurately measuring lupus activity and damage.
research RANKL Induces Organized Lymph Node Growth by Stromal Cell Proliferation
RANKL causes lymph nodes to grow by making certain cells multiply.
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 Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research New developments in the molecular treatment of ichthyosis: review of the literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
research Impact of Reducing Obesity in PCOS: Methods and Treatment Outcomes
Weight loss improves PCOS symptoms and overall health.
research Application of mesenchymal stem cells for anti-senescence and clinical challenges
Mesenchymal stem cells could help treat aging-related diseases better than current methods.
research Celiac Disease: Beyond Diet and Food Awareness
Celiac disease requires more than just a gluten-free diet for effective management.
research Hair Growth Effect and the Mechanisms of Rosa rugosa Extract in DHT-Induced Alopecia Mice Model
Rosa rugosa extract promotes hair growth and could be a natural treatment for hair loss.
research Reactive Oxygen Species (ROS): Beneficial Companions of Plants’ Developmental Processes
Reactive oxygen species (ROS) help control plant growth and development.