January 2024 in “Pediatric rheumatology online journal” In this case report, the authors describe a child and his mother with a heterozygous STING variant linked to SAVI, who exhibited atypical disease courses and varying organ involvement, underlining the diverse clinical manifestations of SAVI.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel G207E STING mutation causing a distinct phenotype involving alopecia, photosensitivity, and thyroid dysfunction, and suggests that common polymorphisms in TMEM173 and IFIH1 may influence disease presentation.
47 citations
,
December 2019 in “Frontiers in immunology” This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.
1 citations
,
August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.
70 citations
,
October 2020 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This review discusses the JAK-STAT pathway and the use of FDA-approved JAK inhibitors for autoimmune and inflammatory diseases but reports no new research findings.
42 citations
,
April 2021 in “Journal of clinical pharmacology” This review discusses baricitinib's applications for various inflammatory disorders and highlights its promising efficacy alongside potential adverse effects, advocating for further research before it becomes a standard treatment.
4 citations
,
November 2016 in “Pediatric Clinics of North America” This article discusses the diagnostic and therapeutic approach for immune-mediated central nervous system diseases but reports no new clinical findings.
April 2024 in “Journal of clinical medicine” This review discusses the diverse cutaneous manifestations of lupus erythematosus and emphasizes the importance of differential diagnosis for effective management, but reports no new clinical findings.
35 citations
,
February 2022 in “Frontiers in Pediatrics” This study found that tofacitinib may be effective in treating various pediatric rheumatic diseases, particularly juvenile idiopathic arthritis, although some patients did not respond, and side effects were observed.
2 citations
,
January 2023 in “Journal of Clinical Medicine” This review discusses the links between different types of alopecia and thyroid disorders, highlighting some shared autoimmune factors, but reports no new clinical results.
223 citations
,
September 2018 in “Rheumatology” This review examines clinical data on the efficacy and safety of JAK inhibitors used for immune-mediated conditions beyond rheumatoid arthritis, highlighting their potential therapeutic roles in various inflammatory diseases.
32 citations
,
December 2018 in “Cytokine” This review discusses the involvement of type I interferons in skin autoimmune and inflammatory diseases but reports no new clinical results.
116 citations
,
February 2017 in “Journal of the American Academy of Dermatology” This systematic review found that Janus kinase inhibitors have shown beneficial effects for psoriasis and alopecia areata, with promising preliminary results in other skin conditions, though more research is needed to define dosing and safety profiles.
48 citations
,
October 2011 in “Sports Medicine” This review covers dermatological conditions experienced by ice-skating athletes due to cold exposure, infections, and inflammation, providing no new clinical findings and emphasizing diagnosis and treatment strategies.
355 citations
,
January 2017 in “Journal of the American Academy of Dermatology” This review reports no new results and highlights existing research suggesting JAK inhibitors may be effective in treating inflammatory skin conditions like alopecia areata, atopic dermatitis, psoriasis, and vitiligo.
This abstract compiles a list of medical syndromes and conditions related to tongue abnormalities and other systemic features but reports no new research findings.
21 citations
,
May 2024 in “American Journal of Medical Genetics Part A” This study observed that among patients with Myhre syndrome, those with the SMAD4 gene variant p.Arg496Cys experienced fewer symptoms like hearing loss, while those with the p.Ile500Thr variant often had severe aortic hypoplasia, highlighting the diverse symptom progression and genetic factors of this rare condition.
January 2022 in “Dermatology Review” This study found that patients with chronic kidney disease-associated pruritus had elevated serum levels of interleukin 31, suggesting a possible role of this cytokine in the condition.
March 2014 in “Journal of The American Academy of Dermatology” The document lists various dermatology topics, treatments, and diagnostic methods.
24 citations
,
October 2017 in “Biomolecules” This review discusses the broader roles of angiogenic factors, like VEGFs and FGFs, beyond angiogenesis, highlighting their involvement in various biological and pathological processes.
January 2026 in “Forum Dermatologicum” This study observed that 2.5% of patients with mycosis fungoides or Szary syndrome experienced alopecia, predominantly within skin lesions, with scalp metastases from other cancers also potentially causing hair loss, highlighting the diagnostic value of trichoscopy in differentiating alopecia types.
6 citations
,
August 2024 in “Viruses” This review reported that despite identifying over 200 symptoms associated with long COVID, significant gaps and controversies remain in understanding its diagnosis, pathophysiology, risk factors, and the impact of viral strains and vaccination.
18 citations
,
March 2004 in “Clinics in Dermatology” This review discusses recent advances in understanding the cellular, molecular, and genetic factors contributing to lupus erythematosus and reports no new experimental findings.
October 2020 in “Veterinary Dermatology” This review discusses autoimmune blistering diseases across species and highlights new treatment efficacy findings and ongoing trials, but it reports no new clinical results.
6 citations
,
April 2017 in “InTech eBooks” This book discusses various unanswered questions about headaches, including genetic factors, smartphone effects, and botulinum toxin's potential benefits for chronic migraines, but reports no new clinical findings.
5 citations
,
January 2016 in “Journal of The American Academy of Dermatology” This review discusses inflammatory and medication-related nephrocutaneous disease associations and emphasizes the importance of timely referral to nephrology for early management, but it reports no new clinical results.
January 2017 in “Springer eBooks” The document explains various skin conditions and their treatments.
83 citations
,
June 2018 in “Frontiers in immunology” This review discusses the roles of αβ and γδ T cells in skin health and disease and reports no new clinical results; the authors highlight potential therapeutic developments.
47 citations
,
February 2021 in “Pharmacological research” This review discusses the potential of endogenic and exogenous exosomes in dermatology and cutaneous aesthetics, highlighting their capacity to repair and rejuvenate skin tissue, but reports no new experimental results.