research Lab Quality Management and Methodology
Men with early balding should be checked for metabolic syndrome, as there's a link between the two.
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research Gonads
The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.
research The Molecular Pathogenesis of Trichilemmal Carcinoma
Trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting similar causes and potential treatments.
research Successful Topical Minoxidil Treatment for Hair Density and Length in Trichorhinophalangeal Syndrome Type 1
Minoxidil improved hair growth in a child with a rare genetic disorder.
research Fibrodysplasia Ossificans Progressiva: A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research From Gene to Therapy in Spinal and Bulbar Muscular Atrophy: Are We There Yet?
Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
research Birt-Hogg-Dubé Syndrome: Genetic and Clinical Insights
Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
research Glucocorticoid Resistance Syndrome in Two Patients With Diverse Genotype
Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Botanical Extract Combined with Minoxidil Improves Hidrotic Ectodermal Dysplasia Caused by p.G11R Mutations: A Case Report
Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
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 Role of Genetics and Sex Steroid Hormones in Male Androgenetic Alopecia and Female Pattern Hair Loss: An Update
Genetics and hormones play a role in male and female hair loss, but more research is needed to fully understand it.
research Recent Advances in Congenital Ichthyoses
New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
research Why Were Sardinians the Shortest Europeans? A Journey Through Genes, Infections, Nutrition, and Sex
Sardinians were historically short due to a mix of genetics and factors like disease and poor nutrition, but recent height increases suggest better living conditions had a bigger impact.
research Rare and Underappreciated Causes of Polycystic Ovarian Syndrome
Some lesser-known causes of PCOS include autoimmune issues, genetic mutations, and changes in the body's microbiome.
research Decreased Serum Ferritin Is Associated With Alopecia in Women
Low iron levels may be linked to some types of hair loss in women.
research Female Pattern Hair Loss: A Clinical and Pathophysiological Review
Female Pattern Hair Loss affects women's self-esteem and needs more research for better treatment.
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Sjogren-Larsson Syndrome: Case Study of a 9-Year-Old Boy
A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
research Expanding on the Phenotypic Spectrum of Woodhouse-Sakati Syndrome Due to Founder Pathogenic Variant in DCAF17: Report of 58 Additional Patients from Qatar and Literature Review
Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research A Patient With Insulin-Dependent Diabetes Mellitus 1 Year After Being Diagnosed With Membranous Glomerulonephritis
A 9-year-old girl developed type 1 diabetes and alopecia after being treated for a rare kidney disease.
research Nonfebrile Seizures in Pediatrics: Key Points to Remember
Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
research The Diagnosis and Treatment of Iron Deficiency and Its Potential Relationship to Hair Loss
Iron deficiency may be related to hair loss, but there's not enough evidence to recommend iron screening or supplements for all hair loss patients.
research Unmet Medical Needs in Chronic, Non-Communicable Inflammatory Skin Diseases
There are still challenges in diagnosing and treating chronic skin diseases, but there is hope for future improvements.
research Adrenal Disorders and the Pediatric Brain: Pathophysiological Considerations and Clinical Implications
Adrenal disorders can cause lasting brain and behavior issues in children.
research Polycystic Ovary Syndrome in Adolescents
The document concludes that diagnosing PCOS in teenagers is difficult and should focus on specific hormone levels and menstrual irregularities, while also considering treatment for symptoms and related health issues.