research Satoyoshi Syndrome: A Rare Multisystemic Disorder Requiring Systemic and Symptomatic Treatment
A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.
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research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research Hair Loss in Autoimmune Cutaneous Bullous Disorders
Hair loss in autoimmune blistering skin diseases varies and may regrow with disease control.
research Chemotherapy of Psoriasis and Other Skin Disorders with Oral Retinoids
Oral retinoids are effective for treating severe skin disorders but have reversible side effects and risks for pregnant women.
research Insulin Resistance and Beta-Cell Dysfunction and the Relationship with Cardio-Metabolic Disorders Among Women with Polycystic Ovary Syndrome
Women with PCOS have more insulin resistance and are more likely to have heart-related health issues, with insulin resistance being a bigger factor than β-cell problems.
research Clinical Case Notes: Lipoid Proteinosis - A Rare Disorder with Pathognomonic Lid Lesions
A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
research 46,XY Disorders of Sex Development Due to Type 2 5-Alpha Reductase Deficiency in Three Siblings: A Case Report from a Low-Resource Setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research 5-Alpha-Reductase Deficiency in a Saudi Girl
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
research Alopecia Areata: A Multifactorial Autoimmune Condition
Alopecia areata is an autoimmune disease causing patchy hair loss, often with other autoimmune disorders, but its exact causes are unknown.
research FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
research The Basic Science of Hair Biology
Hair disorders are caused by a complex mix of biology, genetics, hormones, and environmental factors, affecting hair growth and leading to conditions like alopecia.
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.
research Australian Hair and Wool Research Society Cutaneous Biology and Endocrinology Workshop
The workshop highlighted the genetic links and psychological impacts of hair loss and skin disorders.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Congenital Adrenal Hyperplasia: A Detailed Review of 21-Hydroxylase Deficiency
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research The Hair Shaft: Normality, Abnormality, and Genetics
Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.
research Familial 1q22 Microduplication Associated With Psychiatric Disorders, Intellectual Disability, and Late-Onset Autoimmune Inflammatory Response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Computational Derivation of a Molecular Framework for Hair Follicle Biology from Disease Genes
The research provides a gene-based framework for hair biology, highlighting the Hippo pathway's importance and suggesting links between hair disorders, cancer pathways, and the immune system.
research International Society for the Study of Women's Sexual Health Clinical Practice Guideline for the Use of Systemic Testosterone for Hypoactive Sexual Desire Disorder in Women
Testosterone can help premenopausal and postmenopausal women with low sexual desire, but its long-term safety is unclear and it's not widely approved for this use.
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 Critical Evaluation of the Concept of Genetics in Ayurveda with Special Reference to Eight Undesired Body Types (Ashta Nindit)
Ayurveda's descriptions of genetic disorders align with modern genetic understanding.
research Two Females With Hair Loss
A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
research Polycystic Ovary Syndrome: Etiology, Pathogenesis, and Diagnosis
The document concludes that PCOS is a complex disorder caused by both genetic and environmental factors, affecting women's health in various ways, and requires personalized treatment.
research The Role of AUTS2 in Neurodevelopment and Human Evolution
The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
research A Case of Antilaminin 332 Mucous Membrane Pemphigoid Showing a Blister on the Bulbar Conjunctiva and a Unique Epitope on the α3 Subunit
A woman with a rare autoimmune disorder had a blister on her eye and unique immune reaction, which was effectively treated with medication.
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 Selective Non-Steroidal Inhibitors of 5α-Reductase Type 1
Selective non-steroidal inhibitors of 5α-reductase type 1 can help treat DHT-related disorders.
research Testicular Steroidogenesis: Production and Regulation of Testosterone and Dihydrotestosterone
Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
research Index
The document is a detailed medical reference on skin and genetic disorders.