research Janus Kinase Inhibition in Down Syndrome: Two Cases of Therapeutic Benefit for Alopecia Areata
JAK inhibitors helped treat hair loss in two people with Down syndrome.
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60-90 / 1000+ results research Ichthyosis Follicularis With Alopecia And Photophobia Syndrome With Coexisting Palmoplantar Keratoderma Treated With Acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.
research Androgenetic Alopecia: Pathogenesis and Potential for Therapy
Hair loss needs more research for better treatments.
research Polycystic Ovary Syndrome and Insulin-Resistant Hyperinsulinemia
Insulin resistance contributes to hormone imbalances in many women with polycystic ovary syndrome.
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 High Incidence of Severe Hand-Foot Syndrome During Capecitabine-Docetaxel Combination Chemotherapy
About half the patients treated with capecitabine and docetaxel developed severe hand-foot syndrome.
research Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth
Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.
research Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
research Steroid-Resistant Nephrotic Syndrome Associated with Steroid Sulfatase Deficiency—X-Linked Recessive Ichthyosis: A Case Report and Review of Literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Kennedy's Disease and Partial Androgen Insensitivity Syndrome: Report of 4 Cases and Literature Review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research News in Brief
Scientists found key proteins and genes that affect skin and hair health, and identified potential new treatments for hair loss, skin disorders, and wound healing.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Clinical Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment
Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
research Therapeutic Hotline: Genetic Variations in the Androgen Receptor Gene and Finasteride Response in Women with Androgenetic Alopecia Mediated by Epigenetics
Women with greater androgen sensitivity respond better to finasteride for hair loss.
research Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Genetics of Blond Hair
Blond hair in Solomon Islanders is due to a unique genetic variant, not European ancestry.
research Adrenal 21-Hydroxylase Gene Mutations in Slovenian Hyperandrogenic Women: Evaluation of Corticotrophin Stimulation and HLA Polymorphisms in Screening for Carrier Status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research The Contribution of Endogenous and Exogenous Factors to Female Alopecia
Both genetic and lifestyle factors significantly affect female hair loss.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
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 Hirsutism and Virilization in the Female
The chapter explains the causes of excessive hair growth and masculinization in women and how to measure hormone levels related to these conditions.
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.
research Cutis Verticis Gyrata Associated With Chronic Traction Alopecia
Tight hairstyles can cause a rare scalp condition with thick skin folds.
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 Animal Models and the Developmental Origins of Polycystic Ovary Syndrome: Increasing Evidence for the Role of Androgens in Programming Reproductive and Metabolic Dysfunction
High levels of androgens during early development may cause PCOS-like symptoms.
research Androgen Receptor Gene CAG and GGN Polymorphisms in Infertile Nigerian Men
Certain gene variations are not a major cause of male infertility in Nigerian men.
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 Hormonal and Genetic Etiology of Male Androgenetic Alopecia
research Disruption of the Temporally Regulated Cloaca Endodermal β-Catenin Signaling Causes Anorectal Malformations
Disrupting β-catenin signaling in certain cells causes anorectal malformations.