research Biotinidase Deficiency Characterized by Skin and Hair Findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
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research Clonal Analysis of Stem Cells in Differentiation and Disease
New techniques have enhanced our understanding of how stem cells function and the role of mutations in aging tissues, which may influence future cancer therapies.
research De Novo Single-Nucleotide and Copy Number Variation in Discordant Monozygotic Twins Reveals Disease-Related Genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Rethinking Biotin Therapy for Hair, Nail, and Skin Disorders
Biotin supplements are not proven to improve hair or nails and may interfere with medical tests.
research Three Cases of Androgen-Dependent Disease Associated with Myotonic Dystrophy
Women with myotonic dystrophy might get diseases related to male hormones because their body tissues are extra sensitive to these hormones.
research Lean Women with Polycystic Ovary Syndrome
PCOS in lean women is a serious health condition with implications beyond fertility, affecting metabolism and increasing cardiovascular disease risk.
research Autoimmune Diseases and Acquired Von Willebrand Disease in Two Cases of Progeria
Premature aging increases the risk of immune problems and autoimmune diseases.
research 8th Postgraduate Seminar in Pediatric Dermatology
Experts discussed treatments for skin conditions in children, emphasizing hydration, cautious medication use, and early intervention for infections.
research Dissection of Genetic Variation and Evidence for Pleiotropy in Male Pattern Baldness
Male pattern baldness is mostly inherited, involves many genes, and is linked to other traits like early puberty and strong bones.
research Cure Most Diseases by Logical Nutrition Treatment: The Society Agent Simulating and Usage of Oral and Dental Diseases to Predict Criminals Earlier
The document suggests using natural remedies like bloodletting and honey for various health issues but lacks scientific evidence for their effectiveness.
research FOXN1 Deficient Nude Severe Combined Immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research DSP c.6310delA p.(Thr2104Glnfs*12) Associates With Arrhythmogenic Cardiomyopathy, Increased Trabeculation, Curly Hair, and Palmoplantar Keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Wnt Signaling: The Good and the Bad
Wnt signaling is important for development and cell regulation but can cause diseases like cancer when not working properly.
research The Disrupted Balance Between Hair Follicles and Sebaceous Glands in Hoxc13-Ablated Rabbits
Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
research Buschke-Ollendorff Syndrome: Clinical Features and Genetic Insights
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research Hereditary Mucoepithelial Dysplasia: Unique Histopathological Findings in Skin Lesions
The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
research Acrodermatitis Dysmetabolica With Concomitant Acquired Acrodermatitis Enteropathica in a Patient With Maple Syrup Urine Disease
MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
research The Utility of Elastic Verhoeff-Van Gieson Staining in Dermatopathology
EVG staining is a valuable, simple, and cost-effective method for diagnosing various skin conditions in dermatopathology.
research Clinical Case Notes: Optical Coherence Tomography of Adult-Onset Foveomacular Vitelliform Dystrophy
Multiple eye conditions were studied, highlighting the importance of various imaging methods for diagnosis, the vision side effects of drugs tamoxifen and Propecia, and the usefulness of optical coherence tomography for diagnosing and monitoring macular and retinal diseases.
research Acne
Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.
research Monilethrix: Case Report of a Rare Disease
Monilethrix causes fragile, patchy hair loss.
research Polymorphisms in Androgen and Estrogen Receptor Genes: Effects on Male Aging
Changes in testosterone and estrogen receptor genes can affect how men age, influencing body fat, hair patterns, and possibly leading to skin disorders.
research Vitiligo
Vitiligo causes white skin patches and is linked to autoimmune issues.
research Hair Shaft Dysplasias
Hair shaft dysplasias are abnormal hair conditions that can be inherited or acquired and may signal other health issues, with limited treatment options available.
research Two Mouse Mutations Mapped to Chromosome 11 with Differing Morphologies but Similar Progressive Inflammatory Alopecia
Two mouse mutations cause similar hair loss despite different skin changes.
research FGF Family: From Drug Development to Clinical Application
FGF signaling is a promising target for developing treatments for wounds, metabolic diseases, and cancer.
research Novel PAX9 Mutation Associated with Syndromic Tooth Agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.