research Ichthyosis Follicularis Alopecia and Photophobia Syndrome: Transient Improvement with Oral Isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
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research Ptosis in Childhood: Causes, Clinical Presentations, and Management
Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research Hair Growth Stimulation by a Natural Remedy: Animal Studies
The plant extract remedy Satura® Rosta promotes hair growth and regrowth without negative effects.
research Ectopic Sebaceous Glands in the Hair Follicle Matrix: Case Reports and Literature Review of This Embryogenic Anomaly
The cause and importance of misplaced oil glands in the hair follicle are not well understood.
research Nutrition and Hair Health: The Impact of Nutritional Deficiencies
Certain groups may need vitamin supplements to improve hair health and prevent other health problems.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth, and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Frizzled Receptors in Development and Disease
Frizzled receptors are essential for various body development processes and maintaining certain body functions.
research Male Fertility and Skin Diseases
Some skin diseases and their treatments can negatively affect male fertility.
research The Nutrient–Skin Connection: Diagnosing Eating Disorders Through Dermatologic Signs
Skin, hair, and nail changes can help detect eating disorders early.
research IPSC-Based Approach for Human Hair Follicle Regeneration
The document concludes that using stem cells to regenerate hair follicles could be a promising treatment for hair loss, but there are still challenges to overcome before it can be used clinically.
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 Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese 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 Diagnosis, Management, and Associated Comorbidities of Polycystic Ovary Syndrome: A Narrative Review
Early detection and comprehensive treatment of PCOS are crucial due to its long-term health impacts and associated risks.
research Cellular Senescence and Aging in Myotonic Dystrophy
Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
research Novel Splicing-Site Mutation in DCAF17 Gene Causing Woodhouse-Sakati Syndrome in a Large Consanguineous Family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Endocrine Treatment of Transsexual Persons: An Endocrine Society Clinical Practice Guideline
The guideline recommends mental health involvement in diagnosing gender identity disorder and outlines hormone and surgical treatment protocols, emphasizing safety, informed consent, and long-term monitoring.
research Riboflavin-Responsive Glutaryl CoA Dehydrogenase Deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
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 Fetal Alcohol Syndrome: Current Status of Pathogenesis
The document concludes that the exact way alcohol causes harm to fetal development is unknown, but it significantly affects nutrient transport to the fetus and a safe level of alcohol during pregnancy is not determined.
research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research Curtailing Polycystic Ovary Syndrome: A Review of International Evidence-Based Guidelines and Implications
Lifestyle changes are the main treatment for PCOS, which is a complex condition requiring early management to reduce its health impacts.
research The Feasibility and Utility of Hair Follicle Sampling to Measure FMRP and FMR1 mRNA in Children With or Without Fragile X Syndrome
Hair follicle sampling is a feasible method to measure FMRP and FMR1 mRNA levels in children.
research Valproate-Associated Transaminitis and Rhabdomyolysis
Valproic acid can cause muscle damage and liver issues, which improve after stopping the drug.
research Selection of Anti-Epileptic Drugs for Women of Childbearing Age with Epilepsy
Choose anti-epileptic drugs carefully for women of childbearing age to avoid risks during pregnancy.