research Latent polyglandular autoimmune syndrome type 2 case diagnosed during a shock manifestation
A hidden autoimmune syndrome was found during a shock, showing thyroid, adrenal, and ovarian issues.
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research Detection of five substitution TPO mutations in Polycystic Ovary Syndrome (PCOS) and thyroid hormones disturbance patients
Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.
research 1315 An Integrated model of alopecia areata biomarkers highlights both Th1/Th2 upregulation, with stronger correlations between Th2 activation and disease severity
Both Th1 and Th2 immune responses are increased in alopecia areata, with Th2 response more strongly linked to how severe the disease is.
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 Hair-Thread Tourniquet Syndrome; Emergent Diagnosable Condition
Hair-Thread Tourniquet Syndrome is a rare condition where hair or thread tightly wraps around a child's body part, requiring quick treatment to prevent damage.
research Diffuse hypotrichosis from early childhood
The girl has a genetic hair condition causing thin hair since childhood.
research A CASE-CONTROL STUDY TO ASSESS THE ASSOCIATION OF ALOPECIA AREATA WITH THYROID DYSFUNCTION AND THYROID AUTOIMMUNITY
People with alopecia areata are more likely to have thyroid autoimmunity, but not thyroid disease.
research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.
research 190 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 Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research Lupus erythematosus tumidus (LET) with autoimmune thyroid dysfunction (AITD) as the first presentation of systemic lupus erythematosus: A case report and review of the literature
Recognizing LET and AITD can help diagnose SLE early for better treatment.
research Monilethrix – Case report of a rare disease
Monilethrix causes fragile, patchy hair loss.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
research Risk of autoimmune thyroid diseases in individuals with alopecia areata: A nationwide case‐control study
People with alopecia areata may have a higher risk of thyroid diseases.
research Multicentric calcified trichilemmal cysts with alopecia universalis affecting siblings
Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
research 1386 Trichodysplasia spinulosa small T antigen drives ectopic hair follicle development in adult transgenic mice
The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
research KLHL24-Mediated Hair Follicle Stem Cells Structural Disruption Causes Alopecia
A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
research 1320 Orchestrated cytotoxic and skin migratory ability lacking self-tolerance: circulating γδT-cells may promote alopecia areata
The role of γδT-cells in causing alopecia areata remains unclear.
research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research SAT-240 Type B Insulin Resistance Resulting in Hyperthecosis in a Postmenopausal Woman
A woman's severe insulin resistance improved with treatment, but she still had high testosterone levels due to ovarian issues.
research Efficacy and safety of autologous hematopoietic stem cell transplantation in treating type 1 diabetes mellitus
AHST shows promise for treating type 1 diabetes but needs more research before widespread use.
research Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes
Excessive body hair can signal complex health issues.
research Hair-thread tourniquet syndrome: a case report and review of treatment
Hair-thread tourniquet syndrome needs more awareness and discussion in dermatology.
research G588(P) Transient renal and hepatic dysfunction in severe profound hypothyroidism
Severe hypothyroidism can cause temporary liver and kidney issues, which improve with thyroxine treatment.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Improvement of Satoyoshi syndrome with tacrolimus and corticosteroids
Tacrolimus and corticosteroids can improve symptoms of Satoyoshi syndrome.
research Editors' Picks
Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.