research Management of Pregnancy in a Carrier of the Donohue Mutation
Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
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810-840 / 1000+ results research Keratosis Follicularis Spinulosa Decalvans: What Syndrome Is This?
Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
research Gene Therapy: Recent Advances and Applications in Dermatology
Gene therapy shows promise for treating skin disorders and cancer, but faces technical challenges.
research Birt-Hogg-Dubé Syndrome: From Gene Discovery to Molecularly Targeted Therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research In Vivo Reflectance Confocal Microscopy: Usefulness for Diagnosing Hair Diseases
In vivo reflectance confocal microscopy is useful for evaluating hair shaft diseases but needs improvement for deeper hair follicle issues.
research Genetic Hair and Nail Disorders
Recent progress has been made in understanding inherited hair and nail disorders.
research Resistance of Transplanted Hair Follicles to Diffuse Alopecia Areata
Transplanted hair follicles can resist hair loss from an autoimmune condition better than natural hair.
research Trichoscopy in Genetic Hair Shaft Abnormalities
Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
research British Society for Pediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Alopecia Areata: What’s New in Epidemiology, Pathogenesis, Diagnosis, and Therapeutic Options?
New insights into the causes and treatments for the autoimmune hair loss condition Alopecia areata have been made.
research From Targets to Treatments: Bridging Autoimmune Research to Advance Understanding of Alopecia Areata
Alopecia areata is now understood to be driven by genetic and immune factors.
research Lineage Analysis of Epidermal Stem Cells
Skin stem cells maintain and repair the outer layer of skin, with some types being essential for healing wounds.
research Clinical Course of the First Japanese Family with Marie Unna Hereditary Hypotrichosis: A Follow-Up Report
The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
research Genetic Analysis of 5 Alpha Reductase Type 2 Enzyme in Relation to Oxidative Stress in Cases of Androgenetic Alopecia in a Sample of Egyptian Population
5α reductase type 2 enzyme mutation and oxidative stress may increase androgenetic alopecia risk in Egyptians.
research Current Evaluation of Amenorrhea
The document concludes that identifying the cause of amenorrhea is crucial for proper treatment.
research NUDT15, FTO, and RUNX1 Genetic Variants and Thiopurine Intolerance Among Japanese Patients With Inflammatory Bowel Diseases
Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
research Banded Scalp Hair with an Unusual Glistening Appearance in a Teenager: A Quiz
A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
research Alopecia in Children
Most hair loss in children is caused by a few common conditions and is easy to diagnose, but rare types require careful evaluation.
research Evaluation of Animal Models Suitable for Hair Research and Regeneration
Animal models, especially mice, are essential for advancing hair loss research and treatment.
research Investigation of the Male Pattern Baldness Major Genetic Susceptibility Loci AR/EDA2R and 20p11 in Female Pattern Hair Loss
AR/EDA2R gene linked to early-onset female hair loss, but 20p11 gene not involved.
research The Polycystic Ovary Syndrome: Challenges and Opportunities in Adolescent Medicine
Early treatment of PCOS in teens is crucial to prevent long-term health issues like diabetes and heart disease.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research The Pediatric Origins of Polycystic Ovary Syndrome
Early signs of PCOS in girls, like irregular periods and polycystic ovaries, suggest a need for early diagnosis and intervention to prevent further health issues.
research Menstrual Disorders in Adolescents
The document concludes that early recognition and treatment of PCOS in adolescents is crucial for managing symptoms and long-term health risks.
research Hypoparathyroidism as the Single Major Component for Decades of Autoimmune Polyglandular Syndrome Type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research Late Presentation of Myotonic Dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research Gene-Wide Association Study Between the Aromatase Gene (CYP19A1) and Female Pattern Hair Loss
Aromatase gene variation may increase female hair loss risk.
research Acquired Progressive Kinking of the Hair in a Prepubertal Boy
A 10-year-old boy had the earliest reported case of hair that became progressively kinkier but eventually returned to normal on its own.
research Three-Dimensional Reconstructions of Mechanosensory End Organs Suggest a Unifying Mechanism Underlying Dynamic, Light Touch
Dynamic, light touch is sensed through a common mechanism involving Piezo2 channels in sensory axons.