research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
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research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
research Rhombencephalosynapsis Presenting Antenatally with Ventriculomegaly/Hydrocephalus in a Likely Case of Gomez–López-Hernández Syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Association of AR rs6152G/A Gene Polymorphism With Susceptibility to Polycystic Ovary Syndrome in Chinese Women
A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
research Congenital Atrichia and Hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
research Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Lack of cystatin M/E causes thin hair and dry skin.
research Molecular Evolution of HR, a Gene That Regulates the Postnatal Cycle of the Hair Follicle
Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
research Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Clinical and Molecular Genetic Studies in Hereditary Hair Loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Corticosteroids for the Treatment of Duchenne Muscular Dystrophy
Corticosteroids, especially prednisone, improve short-term muscle strength in Duchenne muscular dystrophy but have manageable side effects.
research The Pathogenesis of Primary Cicatricial Alopecias
The document concludes that more research is needed to better understand and treat primary cicatricial alopecias, and suggests a possible reclassification based on molecular pathways.
research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
research Menstrual Disorders in Adolescents
The document concludes that early recognition and treatment of PCOS in adolescents is crucial for managing symptoms and long-term health risks.
research Immune Deficiency-Related Enteropathy-Lymphocytopenia-Alopecia Syndrome Results from Tetratricopeptide Repeat Domain 7A Deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research The Genetics of Hair Shaft Disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research Premature Graying of Hair: Causes, Associations, and Treatments
Premature graying of hair may suggest health issues and currently lacks effective treatments.
research Hutchinson-Gilford Progeria Syndrome: Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research FOXN1 Deficiency: From the Discovery to Novel Therapeutic Approaches
New treatments for immune disorders caused by FOXN1 deficiency are promising.
research Keratin and Skin Disorders
Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–Like Autoimmune Disease
AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
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 Secondary Cicatricial and Other Permanent Alopecias
The document says that treating the root cause of hair follicle damage is crucial to prevent permanent hair loss, and treatment options vary.
research Insertional Mutation of the Hairless Locus on Mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
research The Role of P-Cadherin in Skin Biology and Pathology: Lessons from the Hair Follicle
P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
research Dermatopathology and Molecular Genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Evolving Approaches to Profiling the Microbiome in Skin Disease
New technologies help us better understand how skin microbes affect skin diseases.
research Diseases of Periocular Hair
The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.
research Alopecia in Children
Most hair loss in children is caused by a few common conditions and is easy to diagnose, but rare types require careful evaluation.
research A Rare Cutis Verticis Gyrata Secondary to Cerebriform Intradermal Nevus: Case Report and Literature Review
A man's unusual scalp folds caused by a skin condition were treated with surgery and remained unchanged two years later.
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.