research Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
Arab APS1 patients have unique and recurrent AIRE gene mutations.
Search
for
Sort by
Research
480-510 / 1000+ resultsresearch Updated Integrated Efficacy Analysis of Ritlecitinib Up to 3 Years in Adolescents With Alopecia Areata From the ALLEGRO Clinical Trials
Ritlecitinib is effective long-term for treating alopecia areata in teens.
research Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1
The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
research Systemic retinoids and thyrotoxicosis in (Multi) nodular goiter: Side effect or coincidence?
Retinoids might cause temporary hyperthyroidism in some patients.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research 724 - A phase 2b, randomized, double-blinded, parallel-group, placebo-controlled study to evaluate the efficacy and safety of rezpegaldesleukin in adults with severe to very-severe alopecia areata
Rezpegaldesleukin shows promise for treating severe alopecia areata.
research Pityriasis rubra pilaris
Pityriasis rubra pilaris is a rare skin disorder with reddish-orange patches and thickened skin, needing better treatment understanding.
research Psychosis as a late manifestation of Sheehan’s syndrome
Sheehan's syndrome can sometimes cause psychosis.
research Endocrine abnormalities in ring chromosome 11: a case report and review of the literature
Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
research A Case of Pityriasis Rubra Pilaris Associated with Myasthenia Gravis
Pityriasis rubra pilaris can occur with myasthenia gravis.
research Evolution of Ritlecitinib Population Pharmacokinetic Models During Clinical Drug Development
Ritlecitinib shows promise as a versatile treatment for various autoimmune and inflammatory diseases.
research Cronkhite-Canada syndrome: Report of an unusual case
The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
research Chrousos syndrome: from molecular pathogenesis to therapeutic management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research Ritlecitinib Efficacy in Adolescents With Alopecia Areata: A Real‐World Experience
Ritlecitinib shows promise in improving hair regrowth in adolescents with alopecia areata.
research Parry-Romberg Syndrome Vasculopathy and Its Treatment With Botulinum Toxin
Botulinum toxin injections greatly reduced pain in Parry-Romberg syndrome.
research Maintenance, withdrawal, and re-treatment with ritlecitinib and brepocitinib in patients with alopecia areata in a single-blind extension of a phase 2a randomized clinical trial
Continuous treatment with ritlecitinib and brepocitinib is needed to maintain hair regrowth in alopecia areata.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
research S2608 A Rare Case of Iron Deficiency Anemia: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
research Case of Cronkhite Canada syndrome shows improvement with enteral supplements.
Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
research Primary Cutaneous Rhabdoid Squamous Cell Carcinoma: A Case Report and Review of Molecular Features
Recognizing RSCC is crucial due to its aggressive nature and high risk of poor outcomes.
research HHV-6A and HHV-6B in Drug-Induced Hypersensitivity Syndrome/Drug Reaction with Eosinophilia and Systemic Symptoms
The document concludes that reactivation of herpesviruses, especially HHV-6, is linked to severe symptoms and complications in drug-induced hypersensitivity syndrome.
research Relapsing Polychondritis Following Alopecia Areata
Relapsing polychondritis might be linked to alopecia areata due to immune system factors.
research Acrodermatitis Enteropathica
Acrodermatitis enteropathica is a rare inherited disorder causing skin issues, diarrhea, and hair loss.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Complex Regional Pain Syndrome I (Reflex Sympathetic Dystrophy)
CRPS type I is a complex pain condition with no proven cure, requiring personalized treatment.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research Hirsutism in a Female Adolescent Induced by Long-Acting Injectable Risperidone
A teenage girl's excessive hair growth was caused by a medication for mania, but improved after stopping the medication.
research P095 The Very Interesting Small Bowel Lesions of Cronkhite-Canada Syndrome
Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.