research Frontal Fibrosing Alopecia: Reflections and Hypotheses on Etiology and Pathogenesis
FFA's causes may include environmental triggers and genetic factors.
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research Chrousos Syndrome: From Molecular Pathogenesis to Therapeutic Management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research Enhancing Diagnostic Yield of Monogenic Diabetes Through Phenotypic and Molecular Reanalysis of 128 Individuals With Young Onset Hyperglycemia: Highlighting the Significance of Accurate Case Characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research The Diversity of Sex Development: What Conditions Affecting Sex Development Teach Us About Sexual Diversity
Conditions affecting sex development show that sexual diversity is a natural part of human variation.
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 A Guide to Cost-Effective Emollient Prescribing
Choose cost-effective emollients for dry skin conditions and prescribe appropriate amounts.
research Short Anagen Syndrome: Case Series and Literature Review
Children with short anagen syndrome usually see their hair condition improve as they get older.
research Premature Adrenarche: Early Maturation of Adrenal Glands in Children
Early adrenal gland maturation in young children can be normal, but other serious conditions should be ruled out first.
research Proceedings of the RAMI Intern Section Meeting, 18th January 2014
The meeting discussed medical findings, including benefits of certain treatments for cancer and heart conditions, and highlighted issues like poor adherence to preventive measures and skill gaps among interns.
research Regional Dermatology: Hair and Nail Biology, Hair Loss Conditions, and Dermatological Issues of the Mouth and Genital Regions
The document explains hair and nail biology, common hair loss conditions and treatments, oral and genital skin diseases, and the risks and treatments associated with squamous cell carcinoma.
research Vitamin D-Dependent Rickets Type II
A 3-year-old with vitamin D-resistant rickets and severe hair loss died despite treatment, highlighting the need for improved management of the condition.
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 Congenital Adrenal Hyperplasia: Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
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 Scalp Basal Cell Carcinoma: A Different Entity?
Scalp basal cell carcinoma may be more aggressive and harder to treat than other types, requiring special attention and further research.
research Woodhouse-Sakati Syndrome: A Case Study of Three Saudi Sisters
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research Study of the Thyroid Profile of Patients with Alopecia
People with hair loss conditions may also have thyroid disorders, but more research is needed to understand the connection.
research Management of Hair Loss in Women
Certain medications and maintaining adequate iron levels can help manage women's hair loss.
research Assessment of Dermatological Disorders with Chronic Hepatitis C Virus Infection
People with chronic Hepatitis C often have skin problems like itching and contact dermatitis, especially older individuals and women.
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 The Challenges with Managing Polycystic Ovary Syndrome: A Qualitative Study of Women’s and Clinicians’ Experiences
Managing PCOS is hard because it varies a lot, treatments are limited, and there's a lot of false information online.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
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 Lichen Planopilaris: Mechanisms, Subtypes, and Diagnosis
Lichen planopilaris causes permanent hair loss and scarring due to damage to hair follicles and can be mistaken for other hair loss conditions.
research Non-Psoralen Treatment of Vitiligo. Part II. Less Commonly Used and Experimental Therapies
Some alternative vitiligo treatments show promise, but none are as effective as psoralens and UVA.
research Papillon-Lefèvre Syndrome: A Rare Case Report and a Brief Review of Literature
Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
research Ocular Manifestations of Hutchinson-Gilford Progeria Syndrome: A Rare Presentation
The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
research Hair Loss in Men and Women: Medical and Surgical Treatments for Androgenic Alopecia
The document concludes that ongoing medical therapy is crucial for preventing hair loss, and surgical options can restore hair, with future treatments for hair loss being promising.
research Pachyonychia Congenita: Sporadic Onset With Mutation Analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Obesity and Polycystic Ovary Syndrome: Implications for Pathogenesis and Novel Management Strategies
Obesity worsens PCOS symptoms, and PCOS may lead to more weight gain; managing both requires a holistic approach that includes mental health.