research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
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research Ectodermal Dysplasia: Otolaryngologic Manifestations and Management
Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
research Acquired scalp alopecia. Part II: A review
Early diagnosis and treatment are crucial for preventing permanent hair loss in various scalp conditions, and while new treatments are promising, more research is needed to evaluate their effectiveness.
research Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia
High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
research Androgenetic alopecia
Hair loss from genetics and hormones can be treated with drugs or surgery.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research The endocrinology of baldness
Hormones and genetics play key roles in male and female baldness, which can affect mental health and may be linked to other health issues.
research Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
research Intraovarian platelet-rich plasma administration could improve blastocyst euploidy rates in women undergoing in vitro fertilization
Platelet-rich plasma may improve embryo genetics in IVF.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Male fertility and skin diseases
Some skin diseases and their treatments can negatively affect male fertility.
research Polycystic Ovary Syndrome: Special Diagnostic and Therapeutic Considerations for Children
Early diagnosis and treatment of PCOS in young people is important to prevent long-term health problems.
research Spironolactone, a Classic Potassium-Sparing Diuretic, Reduces Survivin Expression and Chemosensitizes Cancer Cells to Non-DNA-Damaging Anticancer Drugs
Spironolactone may make some cancer treatments more effective by blocking a protein that helps cancer cells survive.
research Androgenetic, Diffuse and Senescent Alopecia in Men: Practical Evaluation and Management
The conclusion is that treatments like finasteride and minoxidil can prevent baldness progression and improve hair density, but more research is needed on other therapies.
research Alopecia Areata: Updates from the Mouse Perspective
Mouse models help understand alopecia areata and find treatments.
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 Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Research Techniques Made Simple: Zebrafish Models for Human Dermatologic Disease
Zebrafish are useful for studying and developing treatments for human skin diseases.
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 Androgenetic Alopecia: Overview
AGA is a genetic, hormonal hair loss treated with finasteride, minoxidil, and supplements, but new compounds are being developed.
research Enhanced Insights into Frontal Fibrosing Alopecia: Advancements in Pathogenesis Understanding and Management Strategies
Frontal Fibrosing Alopecia needs better diagnostics and treatments, with dutasteride showing promise.
research Kératose pilaire
Keratosis pilaris causes small skin bumps, mainly in women, and treatments offer only temporary relief.
research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research Non-nutritional rickets: Approach, precision medicine, and outcomes
Early diagnosis and tailored treatment improve outcomes for non-nutritional rickets.
research Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report
A 6-year-old girl had both monilethrix and trichorrhexis nodosa, causing brittle hair, with minimal improvement from treatment.
research Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images
Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.
research Atrichia congenita with papular lesions: A rare cause of pediatric alopecia
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
research POLYCYSTIC OVARY SYNDROME (PCOS): DIAGNOSIS, PATHOPHYSIOLOGY AND CONTEMPORARY THERAPEUTIC APPROACHES
Early diagnosis and personalized treatment are crucial for managing PCOS and preventing complications.
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 Recent Advances in Understanding of the Etiopathogenesis, Diagnosis, and Management of Hair Loss Diseases
New understanding and treatments for hair loss are improving, but more research is needed.