research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
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research Fructose-1,6-bisphosphate aldolase A levels decrease in hair keratinocytes during androgenetic alopecia
ALDOA levels drop in hair cells during hair loss.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research ASSESSMENT OF SERUM LEVELS OF ANTIGLIADIN ANTIBODIES (IGG AND IGA) IN PATIENTS WITH ALOPECIA AREATA AND THEIR RELATION TO SEVERITY OF THE DISEASE
Higher antigliadin antibody levels are linked to alopecia areata severity.
research The effect of dietary modulation of sulfur amino acids on cystathionine β synthase–deficient mice
Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
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 Acquired pili torti--a structural hair shaft defect in anorexia nervosa.
Anorexia nervosa may cause a hair defect called pili torti due to malnutrition and high vitamin A levels.
research Decreased selenium intake and low plasma selenium concentrations leading to clinical symptoms in a child with propionic acidaemia
Selenium deficiency caused symptoms in a child, which improved with selenium supplements.
research “Acute Pancreatitis Following Finasteride Toxicity: A Rare Case Report"
Finasteride overdose can cause acute pancreatitis.
research Soft-tissue calcification in systemic lupus erythematosus
Soft-tissue calcification is rare in systemic lupus erythematosus.
research Update on detection, morphology and fragility in pili annulati in three kindreds
Careful light microscopy is crucial for detecting mild cases of pili annulati, which weakens hair and varies widely in expression.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Impaired turnover of autophagolysosomes in cathepsin L deficiency
Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
research Inherited Acrodermatitis Enteropathica
Zinc supplements improved the girl's skin and hair condition.
research Biotinidase Deficiency Accompanying Hair Changes and Periorificial Lesions: A Case Report
Biotin treatment improved hair and skin issues in a child with biotinidase deficiency.
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 Chronic Pancreatitis and Persistent Steatorrhea: What Is the Correct Dose of Enzymes?
Enzyme doses for chronic pancreatitis should match meal size, not patient size.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Amyloid-Associated Alopecia: A Reappraisal Including Its Pathophysiology
Amyloid deposits linked to a type of protein may cause a unique pattern of hair loss by disrupting hair growth cycles.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research An Unusual Cause of Primary Amenorrhea
The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
research IMPAIRMENT OF AUDITORY FUNCTION IN PERSONS WITH TYPE 2 DIABETES MELLITUS DEPENDING ON THE LEVEL OF PERIPHERAL MYELIN PROTEIN
High PMP 22 levels in type 2 diabetes patients may cause hearing loss.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research Alkaline ceramidase 1 is essential for mammalian skin homeostasis and regulating whole‐body energy expenditure
Alkaline ceramidase 1 is crucial for healthy skin and energy balance.
research A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
research Gsdma3 Mutation Causes Bulge Stem Cell Depletion and Alopecia Mediated by Skin Inflammation
A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
research Inborn Errors of Biotin Metabolism
Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
research Oligomeric Procyanidins in Apple Polyphenol Are Main Active Components for Inhibition of Pancreatic Lipase and Triglyceride Absorption
Apple polyphenol, especially oligomeric procyanidins, can reduce fat absorption and lower blood fat levels.
research Clinical Manifestations of Toxic Shock Syndrome
Toxic Shock Syndrome mainly affects menstruating women, can recur, and is linked to staph bacteria, with rapid treatment being crucial.