research Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
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570-600 / 1000+ resultsresearch Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Cronkhite–Canada syndrome: from clinical features to treatment
There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Ectodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases
EDA signaling is linked to skin disorders, various cancers, and liver disease.
research Regulation of the innate immune response in rheumatoid arthritis
More research is needed to understand and manage rheumatoid arthritis better.
research JAK-Inhibitors Beyond the Label: Emerging Applications in Dermatology
JAK inhibitors show promise for treating various skin disorders effectively and safely.
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 Post COVID-19 Sequelae in Adults: A Review
Post-COVID syndrome causes long-lasting symptoms like fatigue, breathing issues, and anxiety.
research Myotonic dystrophy type 1
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
research Nonfebrile Seizures in Pediatrics: Key Points to Remember
Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
research A Rare Case of Biotinidase Deficiancy
An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
research Genetically modified laboratory mice with sebaceous glands abnormalities
Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.
research Zinc and Zinc Transporters in Dermatology
Zinc is crucial for skin health and treating various skin disorders.
research Synthesis and Actions of 5α-Reduced Metabolites of Testosterone in the Nervous System
Testosterone and its metabolites affect brain functions and could help treat neurological disorders.
research Hair loss in infancy and childhood
The document concludes that understanding hair biology and recognizing hair conditions are crucial for managing and treating hair loss in children.
research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research Natural Molecules in the Management of Polycystic Ovary Syndrome (PCOS): An Analytical Review
Natural molecules like inositols, resveratrol, vitamins, and omega-3 fatty acids may help manage Polycystic Ovary Syndrome (PCOS), but their effects vary and need more exploration.
research Ethnopharmacological survey of home remedies used for treatment of hair and scalp and their methods of preparation in the West Bank-Palestine
Natural remedies for hair and scalp issues are still widely used in Palestine.
research Ischemia-Modified Albumin—A Potential New Marker of Oxidative Stress in Dermatological Diseases
IMA may indicate oxidative stress in skin and hair disorders, but more research is needed.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Integration of Point-of-Care Technology in the Decoding Process of Single Nucleotide Polymorphism for Healthcare Application †
Portable point-of-care testing can improve quick and accurate genetic disorder detection.
research Compendium of polycystic ovarian syndrome and its relevance in glycation and diabetes
PCOS is linked to diabetes and insulin resistance, and managing AGEs may help treat related symptoms.
research Diagnostic Value of DermoscopicFindings of Hair and Scalp in Cicatricial Alopecia
Dermoscopy is a useful, low-cost method for diagnosing various types of hair loss disorders known as Cicatricial Alopecia.
research When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
research Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research Sex differences in steroid levels and steroidogenesis in the nervous system: Physiopathological role
Men and women have different levels and production of brain steroids, which may affect their risk for certain brain disorders.