research Localized syringolymphoid hyperplasia with alopecia and anhidrosis
SLHA can be hard to diagnose and needs teamwork between specialists.
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420-450 / 1000+ resultsresearch Effect of Citrullus coclocynthis Schrad on hair growth activity of albino rats
Citrullus colocynthis extracts may promote hair growth as effectively as minoxidil.
research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
research A phase 2a study investigating the effects of ritlecitinib on brainstem auditory evoked potentials and intraepidermal nerve fiber histology in adults with alopecia areata
Ritlecitinib is safe and may effectively treat alopecia areata.
research Index of Suspicion
A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
research S3301 Abnormal Liver Enzymes in Thymoma-Associated Multiorgan Autoimmunity
Thymoma-associated multiorgan autoimmunity can cause liver damage and affects multiple organs, with limited treatment options and a generally poor prognosis.
research Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report
Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
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.
research Estimation of Claudin 3 in the Sreum of Alopecia Areata Patients and Its Association with Disease Severity
Higher Claudin 3 levels in the blood are linked to more severe alopecia areata.
research TCL1 transgenic mouse model as a tool for the study of therapeutic targets and microenvironment in human B-cell chronic lymphocytic leukemia
The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
research Higher Levels of Serum Uric Acid Have a Significant Association with Lower Incidence of Lower Urinary Tract Symptoms in Healthy Korean Men
Higher uric acid levels are linked to fewer urinary symptoms in healthy Korean men.
research Long-Term Efficacy and Safety of Ritlecitinib in Adults and Adolescents with Alopecia Areata: 3-Year Results from the ALLEGRO Phase 2b/3 and ALLEGRO-LT Phase 3 Clinical Studies
Ritlecitinib is effective and safe for long-term use in treating severe alopecia areata in people aged 12 and older.
research A case of simultaneous onset of highly active systemic lupus erythematosus and IgG4-related renal disease
Renal histology is crucial for diagnosing simultaneous SLE and IgG4RD.
research Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research The L412F variant of Toll-like receptor 3 (TLR3) is associated with cutaneous candidiasis, increased susceptibility to cytomegalovirus, and autoimmunity
The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
research Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research Niacin deficiency increases the sensitivity of rats to the short and long term effects of ethylnitrosourea treatment.
Niacin deficiency makes rats more sensitive to cancer-causing chemicals.
research Pathological Studies of Cross‐Related Congenital Hypotrichosis in Cattle
Crossbreeding certain European cattle breeds may cause hair and physical issues in cattle.
research Trimethoprim-induced aseptic meningitis
Certain medications, like trimethoprim, can cause aseptic meningitis, especially in people with autoimmune conditions.
research 11. Accelerated UIP: a special challenge
Diagnosing and treating rapidly worsening lung disease is difficult and requires better guidelines and understanding.
research Acute and 30-day oral toxicity studies of a novel coccidiostat – ethanamizuril
Ethanamizuril is safe for rats at 20 mg/kg feed, but higher doses cause hair loss, organ changes, and liver, kidney, and lung damage.
research Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
research Membranous nephropathy and lupus-like syndrome after hematopoietic cell transplantation: a case report
A man developed autoimmune issues after a transplant, improved with treatment, but died from leukemia relapse.
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Urticaria pigmentosa-like skin disease in a domestic shorthair cat
A cat with severe skin issues improved with dexamethasone and cetirizine.
research Abstract 2469: Increased cathepsin B expression in cultured tuberous sclerosis skin tumor cells and patient tumor tissues
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.