research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
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540-570 / 1000+ resultsresearch An Infant with Worsening Rash
The rash on the infant indicated a serious underlying condition.
research Trans-Epidermal Elimination Due to Insulin Formulation: Report of a Rare Adverse Effect
Switching insulin brands caused skin lesions in a diabetic woman, resolved by changing to oral medication.
research WISP-1 induced by mechanical stress contributes to fibrosis and hypertrophy of the ligamentum flavum through Hedgehog-Gli1 signaling
Targeting Hedgehog signaling may help treat ligamentum flavum fibrosis.
research Serum level of interleukin-15 in active alopecia areata patients and its relation to age, sex, and disease severity
Higher interleukin-15 levels are linked to more severe alopecia areata, but not to age or gender.
research Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease
Danon disease can be hard to diagnose due to non-specific symptoms.
research Supplementary file 1_Evaluation of the efficacy and treatment-emergent adverse events of deuruxolitinib for moderate to severe alopecia areata: a dose-ranging meta-analysis of 1,372 randomized patients.docx
Deuruxolitinib effectively treats alopecia areata but may cause manageable side effects.
research Measurement of level of vitamin D and Antioxidants in Discoid Lupus Erythematosus patients
Patients with Discoid Lupus Erythematosus have lower vitamin D and antioxidant levels and higher oxidative stress.
research Lichen planus and dyslipidemia: a systematic review and meta-analysis of observational studies
People with lichen planus are more likely to have dyslipidemia, especially higher triglyceride levels.
research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous
Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research P447: Late onset biotinidase deficiency misdiagnosed as neuromyelitis optica: A case report and review of diagnostic challenges
Biotinidase deficiency can mimic neuromyelitis optica and should be considered for accurate diagnosis and treatment.
research Azathioprine-induced liver injury in a patient with multiple autoimmune syndrome
A man with multiple autoimmune diseases developed liver injury from azathioprine, but his liver improved after stopping the drug.
research Correlation Analysis of BLTP1 (KIAA1109) and KIF27 Gene Polymorphisms with Wool Traits in Subo Merino Sheep
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
research Influence of feed restriction on the wool proteome: A combined iTRAQ and fiber structural study
Feed restriction in sheep leads to finer wool fibers but may reduce wool quality.
research Inborn errors of biotin metabolism
Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
research Interleukin‐13 as a promising therapeutic target for alopecia areata associated with atopic dermatitis
Targeting Interleukin-13 could help treat alopecia areata linked with atopic dermatitis.
research Concurrent Eosinophilia Increases the Prevalence of Nail Abnormalities and Severity of Hair Loss in Patients With Alopecia Areata
Patients with alopecia areata and eosinophilia have more nail issues and severe hair loss.
research Visceral Leishmaniasis Mimicking Autoimmune Hepatitis
Consider infectious diseases like visceral leishmaniasis before diagnosing autoimmune hepatitis.
research Comparison of Ischemia-modified Albumin and Exercise Stress Test in Stable Angina Pectoris
Ischemia-modified albumin is not effective for diagnosing stable angina compared to exercise stress tests.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
research The association between Interleukin (IL)-4 gene intron 3 VNTR polymorphism and alopecia areata (AA) in Turkish population
IL-4 gene variation may increase the risk of alopecia areata in Turkish people.
research A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research Role of S-Palmitoylation by ZDHHC13 in Mitochondrial function and Metabolism in Liver
ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
research Dietary methionine supplementation to a low-protein diet improved hair follicle development of Angora rabbits
Adding methionine to a low-protein diet helps Angora rabbits grow better fur.
research Ichthyosis fetalis in a cross‐bred lamb
A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.