research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
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600-630 / 1000+ resultsresearch Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research Decades of progressive red and yellow nodules
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
research Baricitinib in pediatric chronic immune thrombocytopenia and associated autoimmune conditions: a case report
Baricitinib improved platelet counts and alopecia in a 16-year-old with chronic immune thrombocytopenia.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Expression of nicastrin, NICD1, and Hes1 in NCSTN knockout mice: implications for hidradenitis suppurativa, Alzheimer’s, and liver cancer
research JOLT: A Noninvasive Solution for the Correction of the Jowl
JOLT uses fillers to lift and tighten the lower face and neck.
research Polyglandular autoimmune syndrome type 4 with GAD antibody and dystonia
Dystonia may be part of PAS-4 and linked to immune issues.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research 591 Chromatin architectural protein CTCF regulates terminal keratinocyte differentiation in the developing epidermis and hair follicles
CTCF protein is essential for skin and hair follicle development in mice.
research Connective Tissue Disorders
Different connective tissue disorders have unique symptoms and treatments, with varying outcomes and often require ongoing care from a specialist.
research SINDROMA CUSHING PADA KEHAMILAN
A pregnant woman with Cushing Syndrome got worse and sadly passed away.
research TOFACITINIB IN OVERLAPPING AUTOIMMUNE AND AUTOINFLAMMATORY DISORDERS: A CASE REPORT OF A DUAL GRAHAM-LITTLE-PICCARDI-LASSEUR SYNDROME AND HIDRADENITIS SUPPURATIVA
Tofacitinib effectively treated a woman's complex autoimmune and autoinflammatory disorders.
research Cyclosporine-A-Induced Intracranial Thrombotic Complications: Systematic Review and Cases Report
Cyclosporine-A can cause serious blood clots in the brain, so patients need careful monitoring.
research Regulation of immune response genes in the skin of allergic and clinically tolerant individuals exposed to p‐phenylenediamine
Everyone has an immune response to PPD, but reactions differ, causing tolerance, mild inflammation, or allergy.
research Pediatric Endocrine-Disrupting Chemical Exposure Produces Irreversible Organizational Injury: Biomarker Evidence Necessitating a Precautionary Public Health Framework
Endocrine-disrupting chemicals cause irreversible harm to children's development, increasing disease risk.
research Smart Diagnostic System for Health Risk Assessment
WomenCare helps predict PCOD risk in women to encourage early medical consultation.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research Cross-Sectional Perspective Study of Post-COVID Syndrome Characteristics in Benghazi, Libya
Fatigue, loss of taste and smell, and cough are common long-term symptoms after COVID-19.
research Cervi Parvum Cornu complex for men with lower urinary tract symptoms: a multicenter, randomized, double-blind, placebo-controlled trial
Cervi Parvum Cornu complex improved urinary symptoms in men without major side effects.
research 2,3,7,8-Tetrachlorodibenzo-p-dioxin Increases the Expression of Genes in the Human Epidermal Differentiation Complex and Accelerates Epidermal Barrier Formation
TCDD speeds up skin barrier formation by increasing certain gene expressions.
research Oculoplastic Surgery Atlas. Eyelid Disorders: . Eds Geoffrey J Gladstone, Evan H Black, Shoib Myint, Brian G Brazzo. Pp 130; pound66.50. Heidelberg: Springer-Verlag, 2001. ISBN 0-387-95316-7.
Surgical excision is the best treatment for SCC, but intralesional cidofovir might be a viable alternative.
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research Cytotoxicity of bendamustine, alone and in combination with novel agents, toward adult T-cell leukemia cells
Bendamustine combined with tucidinostat may effectively treat adult T-cell leukemia.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Delayed epidermal permeability barrier formation and hair follicle aberrations in Inv-Cldn6 mice
Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
research A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research Identification of drug-specific public TCR driving severe cutaneous adverse reactions
Researchers found a specific immune receptor in patients that causes severe skin reactions to a drug.
research Online search interest in long-term symptoms of coronavirus disease 2019 during the COVID-19 pandemic in Japan: Infodemiology study using the most visited search engine in Japan
Interest in long-COVID symptoms in Japan increased with COVID-19 case peaks, especially for hair loss, cough, smell/taste issues, and headache.
research Iatrogenic Cushing's Syndrome in a Patient With Salt-Wasting Congenital Adrenal Hyperplasia (SWCAH)
A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.