research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
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research Pattern Hair Loss in Men: Diagnosis, Genetic Link, Clinical Features, and Treatments
Male pattern hair loss caused by follicular miniaturization; early diagnosis and treatment can reduce psychological burden.
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 Polycystic Ovary Syndrome: Comprehensive Overview and Diagnostic Criteria
PCOS is a complex condition with major health impacts, needing more research for better diagnosis and treatment.
research Severe Cutaneous Adverse Reactions to Drugs
Some drugs can cause rare but potentially deadly skin reactions, and early treatment and avoiding the drug again are key.
research Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Revisited: An Update with a Special Focus on Adolescent and Adult Women
The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
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 Non-Classic Congenital Adrenal Hyperplasia
Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
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.
research Perspectives in Dermatopathology: Telomeres and Telomerase in Aging and Cancer with Emphasis on Cutaneous Disease
Short telomeres contribute to aging and cancer, and while telomerase can delay aging, it may also promote cancer.
research Alopecia: Association with Resistance to Thyroid Hormones
A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
research A Novel Homozygous Variant in the DSP Gene Underlies the First Case of Non-Syndromic Form of Alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Clinical and Laboratory Characteristics of Individuals Aged 17 Years or Younger With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Abstracts from the 4th Annual Student Medical Summit
The document concludes that more research is needed to reduce frequent hospital visits, addiction medicine education improves with specific training, early breast cancer surgery findings are emerging, nipple smears are not very accurate, surgery for older melanoma patients doesn't extend life, a genetic condition in infants can often be treated with one drug, doctors are inconsistent with blood clot medication, a certain gene may protect against cell damage, muscle gene overexpression affects many other genes, and some mitochondrial genes are less active in mice with tumors.
research Updates from the British Association of Dermatologists 91st Annual Meeting, 5-7 July 2011, London, UK
New treatments and management strategies for skin conditions like melanoma and Spitz naevi were discussed at the dermatologists' meeting.
research Inherited Hairlessness: A Case Study of Familial Congenital Atrichia
The document concludes that the girl's hairlessness is likely inherited from her parents.
research Myotonic Dystrophy Type 1: Enhancing Patient Management Through Genetic and Multisystem Studies
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research Cardiac Amyloidosis and Aortic Stenosis: When to Consider It and How to Treat It
When treating older patients with both heart valve disease and heart muscle disease, doctors should create personalized treatment plans that address both conditions.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research Mucocutaneous Manifestations of Endocrine Disorders
Skin symptoms can indicate endocrine disorders and have various treatments.
research New Developments in the Molecular Treatment of Ichthyosis: Review of the Literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
research First Symposium of Ichthyosis Experts
Experts met to improve care for ichthyosis patients in Spain.
research A Large Benign Adrenocortical Adenoma Cosecreting Testosterone and Cortisol
A woman's rare benign tumor that released both cortisol and testosterone was successfully removed, improving her health.
research Female Pattern Hair Loss: An Overview with Focus on the Genetics
Different genes cause Female Pattern Hair Loss compared to male hair loss, and treatments vary, but more research is needed to understand it fully.
research Epidermolysis Bullosa Simplex: A Paradigm for Disorders of Tissue Fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research Bachmann–Bupp Syndrome and Treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Challenges Associated With the Identification of Germline Variants on Myeloid Malignancy Genomic Profiling—A Singaporean Experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome
The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.