research Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease
Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
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research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Autosomal Recessive Monilethrix: Novel Variants of the DSG4 Gene in Three Chinese Families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Scarring Alopecias: Pathology and an Update on Digital Developments
New digital tools are improving the diagnosis and understanding of irreversible hair loss conditions.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research Pro-Inflammatory Vδ1+ T-Cells Infiltrates Are Present In And Around The Hair Bulbs Of Non-Lesional And Lesional Alopecia Areata Hair Follicles
Targeting Vδ1+T-cells may help treat alopecia areata.
research Hair Keratinization in Health and Disease
Understanding intermediate filaments helps explain hair health and related diseases.
research STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Diagnostic Criteria for PCOS: Is There a Need for a Rethink?
The conclusion is that there's a need for a new conference to establish stricter guidelines for diagnosing Polycystic Ovary Syndrome (PCOS).
research Harlequin Ichthyosis (ICHQ): A Juvenile Lethal Mouse Mutation with Ichthyosiform Dermatitis
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Case Report: Two Individuals With AEBP1-Related Classical-Like EDS - Further Clinical Characterisation and Description of Novel AEBP1 Variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research Metabolic Characteristics in Subgroups of Polycystic Ovary Syndrome
Different PCOS subgroups have similar metabolic features, but those without menstrual problems have milder issues.
research The Role of Rare Variants in Male-Pattern Hair Loss: Analysis of Whole Exome Sequencing Data in the UK Biobank
Rare genetic variants in 125 genes are linked to male-pattern hair loss.
research Update on Hidradenitis Suppurativa: Connecting the Tracts
The document concludes that Hidradenitis suppurativa is often underdiagnosed, lacks definitive treatment, and requires better awareness and management strategies.
research A Novel PLEC Nonsense Homozygous Mutation (c.7159G > T; p.Glu2387*) Causes Epidermolysis Bullosa Simplex with Muscular Dystrophy and Diffuse Alopecia: A Case Report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Heterogeneity in the Genetic Alterations and Clinical Presentation of Acrodermatitis Enteropathica: Case Report and Literature Review
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research Phenotypic Heterogeneity in Human Genetic Diseases: Ultrasensitivity-Mediated Threshold Effects as a Unifying Molecular Mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research The Immunology of the Porcine Skin and Its Value as a Model for Human Skin
Porcine skin is very similar to human skin, making it a useful model for research.
research Natural Killer Cells in Atopic and Autoimmune Skin Diseases
NK cells play a role in skin diseases like eczema and psoriasis.
research Human Hair and the Impact of Cosmetic Procedures: A Review on Cleansing and Shape-Modulating Cosmetics
Future hair cosmetics will be safer and more effective.
research Hedgehog Signaling Reprograms Hair Follicle Niche Fibroblasts to a Hyper-Activated State
Overactivating Hedgehog signaling makes hair follicle cells in mice grow hair faster and create more follicles.
research British Association of Dermatologists Guidelines for the Management of People with Cutaneous Lupus Erythematosus 2021
Use antimalarials like hydroxychloroquine for cutaneous lupus, avoid herbal supplements, and focus on lifestyle changes like sun protection.
research A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research ELife Assessment: CaBP1 and 2 Enable Sustained CaV1.3 Calcium Currents and Synaptic Transmission in Inner Hair Cells
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
research Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: A Comprehensive Review
The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
research Altered Hair Root Gene Expression Profiles Highlight Calcium Signaling and Lipid Metabolism Pathways Associated With Curly Hair Initiation and Maintenance in Mangalitza Pigs
Genes related to calcium signaling and lipid metabolism are important for curly hair in Mangalitza pigs.
research Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome
The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
research Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study
Classical PCOS types A and B are most common and linked to higher health risks.
research Application of Multi-Omics Techniques to Androgenetic Alopecia: Current Status and Perspectives
Multi-omics techniques help understand the molecular causes of androgenetic alopecia.
research Epigenetic Mechanism of Gtl2-miRNAs Causes the Primitive Sheep Characteristics Found in Purebred Merino Sheep
A special gene region controls the re-emergence of a primitive wool type in Merino sheep, improving their wool yield and adaptability.