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.
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research Hirsutism: A Comprehensive Update of Embryology, Aetiopathogenesis, and Therapeutic Approach
The document concluded that more research is needed to understand how estrogen affects the enzyme involved in hirsutism development.
research Rare and Common Genetic Determinants of Metabolic Individuality and Their Effects on Human Health
Genetic variations greatly affect individual metabolism and can impact health and disease risk.
research Topobiology of Human Pigmentation: P-Cadherin Selectively Stimulates Hair Follicle Melanogenesis
P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
research Emerging Roles of Sox6 in the Renal and Cardiovascular Systems
Sox6 is important in heart and kidney health, affecting diseases like diabetes, heart disease, and high blood pressure.
research Cell Death in Skin Function, Inflammation, and Disease
Different types of cell death affect skin health and inflammation, and understanding them could improve treatments for skin diseases.
research Treatment of Alopecia Totalis, Universalis, and Focalis with Vitamin D and Analogs: Three Case Reports and a Literature Review
Vitamin D might help treat some types of hair loss, but more research is needed.
research Successful Plasmapheresis and Immunoglobulin Treatment for Severe Lipid Storage Myopathy: Doing the Right Thing for the Wrong Reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research Androgens And Hirsutism In A Large Cohort Of Portuguese Women
PCOS is the most common cause of hirsutism, and personalized treatment is important.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Severe Metabolic Disorders Coexisting With Werner Syndrome: A Case Report
A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
research Beyond Expectations: The Role of Keratin Intermediate Filament Proteins in Epidermal Integrity
Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
research Hair Loss in Children: A Detailed Overview of Pediatric Alopecia
The most common cause of hair loss in children is tinea capitis, followed by alopecia areata and telogen effluvium.
research The Role of the SLC39A Family of Zinc Transporters in Zinc Homeostasis in Skin
Certain zinc transporters are essential for healthy skin and managing zinc in the body could help treat skin problems.
research 5-Alpha Reductase Deficiency
5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.
research Nutrition and Hair: The Role of Nutrients in Hair Health
Eating the right nutrients can improve hair health, but taking extra supplements usually doesn't help unless you have a deficiency.
research Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Touré University Hospital
A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research Diagnostic Imaging in Congenital Adrenal Hyperplasia: How Does It Help?
Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.
research Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic Congenital Adrenal Hyperplasia
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Can AMH Levels Distinguish LOCAH from PCOS Among Hirsute Women?
AMH levels can't reliably tell the difference between LOCAH and all types of PCOS in women with excessive hair growth.
research Hemoglobinopathy and Systemic Lupus: A Rare Association
Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
research Categorization of Long-Lasting Hair Changes in Patients After Hematopoietic Stem Cell Transplants
Patients often experience long-lasting changes to their hair after stem cell transplants.
research Systemic Lupus Erythematosus and Vitamin D Deficiency in an Adult Sudanese Patient with Sickle Cell Trait
A patient with sickle cell trait and low vitamin D might have lupus, a rare combination that needs more attention.
research Association of Benign Prostatic Hyperplasia with Male Pattern Baldness
Men with enlarged prostates often have more severe baldness.
research Androgen Effects in Mammals
Testosterone is crucial for development, growth, and various body functions in mammals.
research Effect of Ultraviolet Radiation, Smoking, and Nutrition on Hair
Ultraviolet rays damage hair, smoking may cause hair loss, and good nutrition is important for hair health, but genetics mainly decide hair thickness.
research Glossary
research Association of Androgenetic Alopecia with Benign Prostatic Hyperplasia: A Case Control Study
Hair loss linked to prostate enlargement; stress and family history important factors.