research Evolving Approaches to Profiling the Microbiome in Skin Disease
New technologies help us better understand how skin microbes affect skin diseases.
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research Rare Clinical Features of the Ellis Van Creveld Syndrome: A Case Report and Literature Review
Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
research Site of Beige and Leaden Pigment Gene Expression Determined by Recombinant Embryonic Skin Grafts and Aggregation Mouse Chimaeras Employing Sash Homozygotes
Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.
research Early Skin Biopsy Is Helpful for the Diagnosis and Management of Neonatal and Infantile Erythrodermas
Early skin biopsy helps diagnose and manage severe skin conditions in babies.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Evaluation and Diagnosis of the Hair Loss Patient
To diagnose hair loss, use a systematic approach including history, exams, and tests.
research Steroid 5α-Reductase as a Novel Therapeutic Target for Schizophrenia and Other Neuropsychiatric Disorders
S5αR inhibitors might help treat schizophrenia and other mental disorders but need more research.
research Origin, Clinical Presentation, and Diagnosis of Facial Hypermelanoses
Facial dark spots can be caused by the sun, genetics, makeup, or medicine, and are diagnosed by patient history and skin tests.
research Perspectives on Dermatopathology
Dermatopathology has made significant progress but many skin diseases remain incurable, requiring ongoing research.
research RSPO1-Mutated Keratinocytes From Palmoplantar Keratoderma Display Impaired Differentiation and Invasiveness: Implications for Squamous Cell Carcinoma Susceptibility in Patients With 46XX Disorder of Sexual Development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Vulvovaginal Involvement in Netherton Syndrome: A Case Report
Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
research A Mouse Model for the Basal Transcription and DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
research Trichoscopy in Genetic Hair Shaft Abnormalities
Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
research An Update of Hair Shaft Disorders
Advances in genetics may lead to targeted treatments for hair disorders.
research Off-Label Uses of Retinoids in Dermatology
Retinoids are effective for various skin conditions and hair loss but have serious side effects, so low doses are recommended.
research Role of the ABCA4 Gene Expression in the Clearance of Toxic Vitamin A Derivatives in Human Hair Follicle Stem Cells and Keratinocytes
The ABCA4 gene protects hair follicle stem cells from toxic vitamin A byproducts.
research Structure and Development of the Skin and Cutaneous Appendages
Understanding skin structure and development helps diagnose and treat skin disorders.
research Dupilumab: A Review of Present Indications and Off-Label Uses
Dupilumab is being tested for many new skin, respiratory, and gastrointestinal conditions.
research The Immunological Impact of IL-1 Family Cytokines on the Epidermal Barrier
IL-1 family cytokines are crucial for skin defense and healing, but their imbalance can cause skin diseases.
research Hormonal and Genetic Etiology of Male Androgenetic Alopecia
research Cell Death by Cornification
Cornification is how skin cells die to form the protective outer layer of skin, hair, and nails.
research The Mechanisms of Fur Development and Color Formation in American Mink Revealed Using Comparative Transcriptomics
The research found specific genes and pathways that control fur development and color in young American minks.
research Ichthyosis Follicularis Alopecia and Photophobia Syndrome: Transient Improvement with Oral Isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Keratin Disorders: From Gene to Therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Monilethrix Treated with the Oral Retinoid Ro 10-9359 (Tigason)
Tigason improved hair growth in a boy with monilethrix without side effects.
research Sex Steroid Synthesis in Human Skin In Situ: The Roles of Aromatase and Steroidogenic Acute Regulatory Protein in the Homeostasis of Human Skin
Human skin produces sex hormones like estrogen and testosterone, influenced by ARO and StAR, which may affect skin elasticity and hair growth.
research Keratin Function and Regulation in Tissue Homeostasis and Pathogenesis
Keratin is crucial for keeping skin cells healthy and its changes can lead to diseases and affect cell behavior.