12 citations
,
September 2014 in “Bone” This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.
13 citations
,
April 1982 in “The Journal of Dermatology” This study found that poly(adenosine diphosphate-ribose) synthesis in human skin varies by cell type and condition, with distinct patterns in psoriatic, cancerous, and normal tissues.
May 2025 in “The Journal of Rheumatology” This case report describes a 32-year-old Filipino female with mixed connective tissue disease who sequentially developed distinct autoimmune disorders over seven years, highlighting the complexities in diagnosis and management of overlap syndromes.
June 2026 in “Dermatology and Therapy” This study reported that ritlecitinib was prescribed to a diverse group of patients with severe alopecia areata in the first 10 months after FDA approval, indicating its potential role in AA management.
2 citations
,
April 2018 in “SLEEP” This meta-analysis found that rheumatoid arthritis patients experience poorer sleep quality compared to healthy controls, including reduced total sleep time and efficiency, longer sleep latency, and increased wakefulness after sleep onset.
In this study using C3H/HeJ mice, a single subcutaneous injection of the fusion protein PTH-CBD increased anagen hair follicle counts and promoted hair regrowth comparably to daily oral ruxolitinib, potentially by enhancing beta-catenin production and stimulating anagen transition.
November 2023 in “Journal of Pakistan Society of Internal Medicine.” This review discusses the mechanisms, uses, and side effects of conventional synthetic DMARDs, particularly methotrexate, for rheumatoid arthritis, but reports no new clinical findings.
25 citations
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September 2005 in “Journal of the American Academy of Dermatology” This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.
July 2015 in “Journal of evolution of medical and dental sciences” This study found that the most common causes for dermatology outpatient visits in RIMS Kadapa were contact dermatitis, scabies, fungal infections, urticaria, and acne.
12 citations
,
March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
2 citations
,
March 2012 in “Current opinion in urology” This study suggests that 5-alpha-reductase inhibitors may reduce the rate of clinical progression in men with low-risk prostate cancer who choose active surveillance.
January 2025 in “Journal of College of Physicians And Surgeons Pakistan” In this case report, a 36-year-old woman with GAPO syndrome underwent successful XEN gelatin micro-stent implantation in both eyes to control primary open-angle glaucoma that was unresponsive to medical treatment, marking the first documented use of this minimally invasive glaucoma surgery in such a patient.
July 2023 in “Media Dermato Venereologica Indonesiana” This case study highlights that RDEB-mitis can be misdiagnosed in older adults, emphasizing the importance of accurate diagnosis as it does not require immunosuppressive treatment.
101 citations
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October 2007 in “Journal of Biological Chemistry” This study indicates that reduced activity of the matriptase-prostasin proteolytic cascade is likely the cause of human autosomal recessive ichthyosis with hypotrichosis, as demonstrated using a novel mouse model.
2 citations
,
March 2026 in “Journal of Dermatological Treatment” This study found that JAK inhibitors used to treat alopecia areata have varied safety profiles, with different adverse events associated with each drug; tofacitinib and ruxolitinib had earlier onset of events, while baricitinib and ritlecitinib showed distinct delayed patterns.
This study, involving patients with early rheumatoid arthritis, found that treatment regimens combining methotrexate and glucocorticoids, with or without initial high-dose methylprednisolone, showed higher remission rates over one year compared to methotrexate or leflunomide alone, and all regimens were generally well-tolerated.
October 2025 in “Frontiers in Medicine” This study confirmed known adverse events and identified new ones related to ixekizumab, offering preliminary safety insights for its clinical use, but noted limitations such as potential underreporting and confounding factors in the spontaneous adverse event reporting systems.
May 2011 in “Psychiatric News” This article provides regulatory updates, legal briefs, and industry news, reporting no new clinical findings.
20 citations
,
July 2017 in “Scientific Reports” This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.
13 citations
,
April 2024 in “JAAD Case Reports” This review discusses current treatments for discoid lupus erythematosus and highlights anifrolumab as a promising option for difficult cases, but no new clinical results are reported.
9 citations
,
January 2016 in “Case Reports in Medicine” This study reported two cases of ryzophagia among nonpregnant women in the US, with symptoms resolving after iron dextran therapy, suggesting a link with iron deficiency.
March 2026 in “Preprints.org” In this study, plerixafor was found to enhance melanogenesis and promote repigmentation by engaging a β-arrestin–β-catenin–MITF signaling axis in melanocytes, and showed effectiveness in restoring depigmentation in a murine model without causing systemic toxicity.
9 citations
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January 2013 in “Case reports in emergency medicine” This case study reports that Citrullus colocynthis can cause severe gastrointestinal symptoms, including rectorrhagia and mucosal erosion, highlighting the need for awareness of its potential side effects.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.
4 citations
,
July 2015 in “Veterinary Dermatology” This study identified the expression of 5αR1 and 5αR3 enzymes in canine skin, which may advance understanding and treatment of alopecia X.
September 2017 in “Journal of Investigative Dermatology” RCS-01 is safe and may help rejuvenate aging skin.
1 citations
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January 2023 in “Cutis” This report discusses two cases where patients continued EGFR inhibitor therapy while receiving topical treatments for SDRIFE, highlighting the importance of dermatologists in managing such cutaneous adverse events without stopping cancer treatment.
16 citations
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July 2020 in “International Journal of Molecular Sciences” This study found that ruxolitinib modulated inflammatory changes and stimulated growth factor signals by blocking the JAK-STAT pathway in an in vitro model of alopecia areata.
December 2022 in “Journal of neurodevelopmental disorders” This study observed that repeated hair follicle sampling is feasible and reliable for measuring FMR1 mRNA and FMRP in individuals with Fragile X syndrome, supporting its use in longitudinal studies.