research Early Onset and Novel Features in a Spinal and Bulbar Muscular Atrophy Patient with a 68 CAG Repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
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research Clinical Features of Familial Lewy Body Parkinsonism Caused by α-Synuclein Triplication (Iowa Kindred) with Video Documentation
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research Pleiotropic Role of Notch Signaling in Human Skin Diseases
Notch signaling disruptions can cause various skin diseases.
research Development of Gene Therapy for Inner Ear Disease: Using Bilateral Vestibular Hypofunction as a Vehicle for Translational Research
Gene therapy, especially using atoh1, shows promise for creating functional sensory hair cells in the inner ear, but dosing and side effects need to be managed for clinical application.
research Androgenetic Alopecia and Risk of Coronary Artery Disease
Balding people may have higher heart disease risk.
research Systemic Autoimmune Diseases: Insights and Advances
The document concludes that systemic autoimmune diseases are complex, incurable, and require ongoing treatment and research.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of Two Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Familial 1q22 Microduplication Associated With Psychiatric Disorders, Intellectual Disability, and Late-Onset Autoimmune Inflammatory Response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research New York Academy of Medicine, Section on Dermatology and Syphilis
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research Diseases of the Skin: Drug Ill Effects on the Skin
All medications can cause skin rashes, often without a clear cause, and better tests are needed to identify these drug-related skin issues.
research How Coronavirus Disease 2019 Changed Dermatology Practice in One Year Around the World
COVID-19 changed dermatology by increasing telemedicine and highlighting healthcare disparities.
research Genetic Transformation of Keratoacanthoma-Type Cutaneous Squamous Cell Carcinoma Following Intralesional Chemotherapy
Intralesional chemotherapy with 5-fluorouracil and methotrexate may worsen keratoacanthoma-type skin cancer in transplant patients.
research A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
research Polycystic Ovarian Disease in Adult and Perimenopausal Women
Polycystic ovarian disease symptoms can continue after menopause, making diagnosis and management in older women challenging.
research Faculty Opinions Recommendation of Six Novel Susceptibility Loci for Early-Onset Androgenetic Alopecia and Their Unexpected Association with Common Diseases
Six new risk spots for early hair loss were found, which also link to Parkinson's disease and lower fertility. Two genes, FOXA2 and HDAC4, could be new treatment targets. Hair loss might also be connected to heart disease, metabolic syndrome, and prostate cancer.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research Acne as a Chronic Systemic Disease
Acne is a chronic disease linked to various systemic conditions and has significant psychological and social effects.
research Keratin 17 in Disease Pathogenesis: From Cancer to Dermatoses
Keratin 17 is linked to various diseases, including cancer and skin conditions, and may be a target for diagnosis and treatment.
research Lysophospholipid Mediators in Health and Disease
Lysophospholipids like LPA and S1P are important for hair growth, immune responses, and vascular development, and could be targeted for treating diseases.
research The Human Skin Microbiome in Selected Cutaneous Diseases
Changes in skin microbes play a role in some skin diseases and could lead to new treatments.
research Hair and Nail Diseases in the Elderly Population
Older adults commonly experience hair loss and nail disorders due to aging and health changes, affecting their quality of life.
research The Effect of DNMTs and MBPs on Hypomethylation in Systemic Lupus Erythematosus
Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
research Alopecia Areata: The Disease of Hairless Patches on the Scalp and Any Area of Face
Alopecia areata is an autoimmune condition causing patchy hair loss, with treatments focusing on immune system regulation and hair regrowth.
research Clinical and Molecular Features in a Cohort of Middle Eastern Patients With Epidermolysis Bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Alopecia Areata in Twins With Autoimmune Thyroiditis: Personal Observations
The study found that alopecia areata is strongly linked to autoimmune diseases and may indicate a genetic predisposition to such conditions.
research Primary Follicular Dystrophy With Scarring Dermatitis in C57BL/6 Mouse Substrains Resembles Central Centrifugal Cicatricial Alopecia in Humans
Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.
research The Influence of Interferon on Healthy and Diseased Skin
Type I interferons play a key role in the development of various skin diseases.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Type 1 Diabetes Mellitus and Autoimmune Diseases: A Critical Review of the Association and the Application of Personalized Medicine
Type 1 diabetes often occurs with other autoimmune diseases, and personalized treatment based on genetics can improve outcomes.
research Inflammatory and Non-Melanocytic Tumoral Pathology of the Nail
The document concludes that understanding nail anatomy is key for diagnosing nail diseases, early signs of nail melanoma may allow for less aggressive treatment, and specific genetic mutations are important in thyroid cancer prognosis and treatment.