This case report describes a young female with Rhupus syndrome, characterized by symptoms of both Systemic Lupus Erythematosus and Rheumatoid Arthritis, who achieved clinical remission with treatment.
18 citations
,
August 2015 in “Biochemical and Biophysical Research Communications” This study found that the XEDAR receptor can activate the non-canonical NF-kB pathway involving p100 processing, which is regulated by interactions with TRAF proteins and specific kinases.
127 citations
,
July 2002 in “EMBO journal” This study found that RXRα/RARγ heterodimers are necessary for retinoic acid-induced keratinocyte proliferation in the skin, while normal epidermal maintenance does not require RAR-mediated signaling.
This article reviews different generations of synthetic retinoids for dermatological use, discussing their efficacy and significant side effects, but reports no new clinical results.
143 citations
,
May 2002 in “PubMed” This study found that the retinoid LGD1069 suppressed mammary tumorigenesis in a mouse model without observable toxicity, while TTNPB showed modest effects but was associated with significant toxicity.
April 2023 in “Journal of Investigative Dermatology” This study found that KROX20 is crucial for hair follicle development and epidermal homeostasis, as its deletion in skin epithelial cells led to hair loss and increased epidermal thickness.
June 2025 in “British Journal of Dermatology” This study details a case of a 20-year-old woman with APECED syndrome and alopecia areata who experienced complete scalp hair regrowth and improved quality of life after nine months of ruxolitinib treatment, highlighting the drug's effectiveness for severe AA linked to AIRE gene mutation.
6 citations
,
November 2023 in “Clinical Pharmacokinetics” This research discusses the parallel clinical development of ritlecitinib, an oral Janus kinase 3/tyrosine kinase inhibitor, for treating conditions such as alopecia areata, vitiligo, ulcerative colitis, Crohn's disease, and rheumatoid arthritis. Results are not reported in the abstract.
October 2024 in “Journal of the Endocrine Society” This case report highlights that a patient with resistance to thyroid hormone was misdiagnosed as having Graves’ disease, leading to unnecessary radioactive iodine treatment.
16 citations
,
August 2011 in “Annals of Allergy Asthma & Immunology” This report describes a case of a 19-year-old woman experiencing severe recurrent angioedema with airway issues, leading to multiple emergency visits and unsuccessful treatment with typical steroid-sparing agents.
September 2001 in “PubMed” This study developed a non-destructive X-ray fluorescence technique to quantitatively analyze elemental content in human hair and constructed a database of element concentrations in healthy Swedish, Caucasian individuals.
15 citations
,
March 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that vitamin D receptor expression is associated with proliferating keratinocytes, while retinoid X receptor α is linked to differentiating keratinocytes, suggesting differential targeting by vitamin D metabolites.
February 2018 in “BMJ case reports” This case report describes an 18-year-old woman with a pruritic rash featuring extensive confluent scaly erythema, hyperkeratotic follicular plugging, and waxy keratoderma on palms and soles.
This study suggests that the long non-coding RNA Xist is a key factor in sex differences in systemic lupus erythematosus and rheumatoid arthritis, affecting immune cell behavior and inflammatory pathways in women.
May 2026 in “Journal of Human Immunity” In this study, researchers found that the JAK1/2 inhibitor ruxolitinib helped normalize tissue-specific autoimmunity in APECED patients by reducing inflammation and immune cell accumulation, but it was also linked to subclinical side effects like anemia and weight gain.
June 2015 in “Annals of the Rheumatic Diseases” This clinical case report describes a 44-year-old male whose initial diagnosis of rheumatoid arthritis progressed over a decade to include systemic lupus erythematosus and Sjögren's Syndrome, highlighting the complexity of managing multiple autoimmune syndromes.
24 citations
,
July 2021 in “Pharmaceutics” This article reviews the JAK signaling pathway and the development of ruxolitinib cream as a targeted treatment for inflammatory skin diseases, reporting no new clinical results.
5-ARI therapy may help prevent prostate cancer progression.
1 citations
,
December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
8 citations
,
October 2022 in “Dermatology practical & conceptual” This source reports that tofacitinib and ruxolitinib showed potential efficacy and acceptable safety profiles in treating various autoimmune disorders, including alopecia areata and psoriasis, based on a review of clinical studies, while recommending physicians consider the individual risks and benefits.
5 citations
,
July 1996 in “Journal of Cutaneous Medicine and Surgery” This study explains that while trichothiodystrophy and xeroderma pigmentosum share genetic defects, TTD patients primarily exhibit issues in transcription initiation, not the increased skin cancer risk seen in XP.
45 citations
,
January 2010 in “Journal of Veterinary Medical Science” This study identified a mutation in the keratin 71 gene that causes curly hair in certain rats, advancing our understanding of hair formation.
24 citations
,
August 2017 in “Prostaglandins & Other Lipid Mediators” This review discusses the potential roles of prostaglandin D2 and its receptor CRTH2 in various diseases beyond allergies and asthma and reports no new clinical results.
31 citations
,
February 2014 in “Inflammation Research” This study found that reduced expression of CD200R1 on monocyte-derived macrophages in rheumatoid arthritis patients was significantly associated with higher disease severity and an imbalance in Th17/Treg cells.
October 2023 in “Psychiatry research. Case reports” In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
January 2025 in “JCEM Case Reports” This report describes two cases of glucocorticoid resistance syndrome highlighting genetic diversity; one patient improved with low-dose dexamethasone despite negative genetic testing, while the other is monitored with a novel NR3C1 variant.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that engineered high-affinity soluble CD200R agonists, including ARQ-234, showed superior efficacy in reducing immune responses in various preclinical models of inflammatory conditions, suggesting potential as a therapeutic for atopic dermatitis and other related diseases.
March 2026 in “Journal of Clinical Oncology” In this study, pre-treatment with 5-α-reductase inhibitors (finasteride/dutasteride) in patients with metastatic renal cell carcinoma was associated with better immune checkpoint inhibitor effectiveness and improved progression-free and overall survival, without increasing severe side effects.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.