research Correspondence
RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
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540-570 / 1000+ results research MẤT CÂN BẰNG GIỮA TẾ BÀO T ĐIỀU HÒA VÀ TẾ BÀO T GÂY ĐỘC TẾ BÀO TRONG RỤNG TÓC TỪNG MẢNG: KHI ĐẶC QUYỀN MIỄN DỊCH SỤP ĐỔ
Imbalance in immune cells causes hair loss in alopecia areata.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research Genome-wide p63-Target Gene Analyses Reveal TAp63/NRF2-Dependent Oxidative Stress Responses
TAp63 and NRF2 work together to manage oxidative stress, preventing premature aging and aiding skin functions.
research Two familial cases of Olmsted-like syndrome with a G573V mutation of theTRPV3gene
A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
research Clinical Case Notes. Tamoxifen optic neuropathy
A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
research Alopecia Areata Developing in Non-Insulin Dependent Diabetes Mellitus Type-2, an Autoimmune Disease
A woman with type 2 diabetes developed alopecia areata, suggesting a link between the two autoimmune conditions.
research Triangular temporal alopecia: a rare case in adulthood
Triangular temporal alopecia can occur in adults and should be correctly identified to prevent misdiagnosis.
research JAK-centric explainable few-shot gene-expression diagnosis framework for alopecia via MultiPLIER priors and relation-style set-to-set comparison
A new method helps diagnose alopecia areata using specific gene markers and could guide targeted treatments.
research Integrated Safety Analysis of Ritlecitinib in Adolescent Patients with Alopecia Areata from the Randomized, Placebo-Controlled ALLEGRO Phase 2b/3 and Ongoing Open-Label Phase 3 ALLEGRO-LT Studies
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Halo naevi, vitiligo and diffuse alopecia areata associated with tocilizumab therapy
Tocilizumab therapy may cause skin and hair conditions like halo naevi, vitiligo, and alopecia areata.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy
Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
research A clinical case of familial alopecia areata in combination with immune pathology
Tofacitinib may help hair regrowth in familial alopecia areata with immune issues, but more research is needed.
research Pili trianguli et canaliculi as a phenotypic subtype in patients with central centrifugal cicatricial alopecia: A scanning electron microscopy study
Hair shaft changes may be linked to CCCA, but their role is unclear.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research 307 Computer-assisted epitope prediction revealed potential autoantigens associated with human alopecia areata
Melanogenesis-related proteins may trigger immune responses in alopecia areata patients.
research The AhR pathway is dysregulated in alopecia areata
Targeting the AhR pathway may help treat alopecia areata.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research RAGE and Its Ligands in Melanoma
RAGE is a potential target for melanoma treatment, but its effectiveness is uncertain due to variable expression levels.
research Multiple Autoimmune Syndrome type 3- Thyroiditis, Vitiligo and Alopecia Areata
A woman with multiple autoimmune diseases showed improvement in hair loss but not in skin discoloration after treatment.
research PKC downregulation upon rapamycin treatment attenuates mitochondrial disease
Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
research Fatal autoimmunity results from the conditional deletion of Snai2 and Snai3
Deleting Snai2 and Snai3 causes fatal autoimmunity.
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 Alopecia Areata in Skin of Color Patients: New Considerations Sparked by the Approval of Baricitinib
The paper concludes that the new medication baricitinib needs further testing in a more diverse group of patients with alopecia areata.
research An adult case of suspected A20 haploinsufficiency mimicking polyarteritis nodosa
A rare genetic condition can mimic symptoms of other diseases, making diagnosis challenging.
research Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1
The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
research A case of temporal triangular alopecia
A 3-year-old boy was diagnosed with a rare, non-scarring hair loss condition called temporal triangular alopecia.