research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
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210-240 / 1000+ results research 정상 및 배양 피부 , 수종 각화이상성 피부질환에서의 Skin Sulfhydryl Oxidase 발현에 관한 연구
SSO helps in skin protection and keratinization.
research Group IID, IIE, IIF and III secreted phospholipase A2s
Different sPLA2 enzymes affect immunity, skin and hair health, reproduction, and may be potential targets for therapy.
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research PENGARUH METODE MASERASI DAN SOKLETASI TERHADAP STABILITAS FISIK SEDIAAN HAIR TONIC EKSTRAK ETANOL DAUN LIDAH MERTUA (Sansevieria trifasciata P.)
Both extraction methods result in similar physical stability for the hair tonic.
research Moth-eaten alopecia and beyond: Syphilitic alopecia - Revisited
Syphilitic alopecia can be effectively diagnosed and treated, leading to hair regrowth.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Type 1 interferon signature and cytotoxic T lymphocyte activation targeted against sweat ducts in inflammatory acquired idiopathic generalized anhidrosis
Inflammation damages sweat ducts, causing sweat gland injury.
research S4890 Infliximab-Induced Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis Syndrome
Infliximab can cause SAPHO syndrome, which may improve with Spesolimab and methotrexate.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
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.
research Ichthyoses
Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
research Justified Suspicion: Symptomatic Syphilitic Alopecia in a Patient with Well-Controlled HIV
Syphilis can cause unexpected symptoms like hair loss in well-managed HIV patients, so doctors should stay alert.
research S1:05 Cutaneous lupus subtypes: the tissue response influences the phenotype
research SUN-287 A Case of Ectopic Neurohypophysis
The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
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 Network-based identification genetic effect of SARS-CoV-2 infections to Idiopathic pulmonary fibrosis (IPF) patients
SARS-CoV-2 may worsen IPF due to shared genes and pathways, suggesting potential drug targets.
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Bayesian Hidden Markov Modelling of Blood Type Distribution for Covid-19 Cases Using Poisson Distribution
Blood type affects COVID-19 infection rates differently in Europe and Africa.
research Analyse trichoskopischer Bilder mit tiefen neuronalen Netzen zur Diagnose und Aktivitätsbewertung von Alopecia areata – eine retrospektive Studie
Deep-learning models can effectively diagnose and assess Alopecia areata using scalp images.
research A novel human type I hair keratin gene: evidence for two keratin hHa3 isoforms
Scientists discovered two versions of a new human hair keratin gene.
research 5175 A Rare Case of Type B Insulin Resistance Syndrome
Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
research Sequence analyses of Type I and Type II chains in human hair and epithelial keratin intermediate filaments: Promiscuous obligate heterodimers, Type II template for molecule formation and a rationale for heterodimer formation
Type I and Type II keratin chains can form heterodimers despite sequence differences.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Multisystem Inflammatory Syndrome in Adults (MIS-A) and SARS-CoV2: An Evolving Relationship
MIS-A is a severe complication after COVID-19, mostly in young black males, needing more research and awareness.
research Investigation of Insulin-Like Growth Factor 1 Receptor Expression in Cases of Sacrococcygeal Pilonidal Sinus
Decreased IGF-1R expression may contribute to sacrococcygeal pilonidal sinus development.
research A Filipino with Systemic Lupus Erythematosus-Scleroderma Overlap Syndrome
Recognizing and treating overlap syndrome in connective tissue diseases is crucial.
research Secondary syphilis presenting with alopecia and leukoderma in a stable HIV-positive patient in a resource-limited setting: a case report
Syphilis can cause hair loss and skin changes in HIV-positive patients, and proper treatment can resolve these symptoms.
research A cDNA encoding the human type I hair keratin hHa1
hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.
research Genomic Portraiture: The Science and Ethics of DNA Phenotyping in Identity Prediction
DNA phenotyping can predict physical traits like eye, hair, and skin color, improving forensic investigations.