November 2025 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” This study documented a case of an 11-month-old with PKU who developed acrodermatitis enteropathica-like symptoms due to severe phenylalanine deficiency, requiring dietary adjustment to restore phenylalanine levels.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.
2 citations
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September 2024 in “Asian Journal of Andrology” In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.
1 citations
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December 2022 in “Life” This review systematically analyzed evidence on treatment options for erosive pustular dermatosis, finding that while potent topical steroids like clobetasol propionate can be effective, recurrence is common, and more robust studies are necessary for stronger recommendations.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.
16 citations
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October 2013 in “Anais Brasileiros de Dermatologia” In this case report, an elderly woman with erosive pustular dermatosis of the scalp showed complete closure of eroded areas after treatment with prednisone and topical tacrolimus, resulting in stable scarring alopecia.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.
1 citations
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January 2016 This review discusses the diverse applications of platelet-rich plasma in tissue repair, aesthetic medicine, and hair restoration, but reports no new clinical results.
478 citations
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September 1996 in “Proceedings of the National Academy of Sciences” This study found that overexpression of PTHrP in mice chondrocytes led to short-limbed dwarfism and delays in endochondral ossification, highlighting PTHrP's role in inhibiting chondrocyte differentiation.
1 citations
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April 2009 in “The Proceedings of the International Plant Nutrition Colloquium XVI” This study found that phosphorus and nitrogen deprivation increased root hair length in Brassica carinata and induced the expression of certain P-responsive genes, such as LRR and PRP.
4 citations
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July 2024 in “PubMed” This study found that platelet-rich plasma therapy may improve symptoms and quality of life in adults with moderate to severe atopic dermatitis, although standardized protocols for its preparation need further study.
This phase Ib study found that combining pegylated liposomal doxorubicin and pembrolizumab was well-tolerated and effective, with durable antitumor responses and a median survival of over two years in heavily pretreated ER-positive metastatic breast cancer patients.
20 citations
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November 2020 in “Stem Cell Research & Therapy” This study found that placenta-derived mesenchymal stem cells overexpressing PRL-1 inhibited adipogenesis in orbital fibroblasts from Graves’ ophthalmopathy patients by modulating specific signaling pathways, suggesting a potential therapeutic strategy.
This source explains that Equine Cushing’s disease, or PPID, in horses is due to the degeneration of brain cells producing dopamine, leading to elevated cortisol levels and characteristic symptoms; it outlines diagnosis methods and emphasizes life-long pergolide treatment to manage the condition.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.
5 citations
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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.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
14 citations
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April 2020 in “Journal of Cosmetic Dermatology” In this study, intradermal injections of QR678 were found to significantly reduce hair fall in men with androgenetic alopecia over 6 months, with superior improvements in hair density and thickness compared to PRP.
1 citations
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July 2024 in “Journal of Investigative Dermatology” Plaquenil can cause a severe skin reaction called AGEP, requiring prompt diagnosis and treatment.
11 citations
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January 2008 in “International journal of environment and health” This review discusses the environmental contamination and health risks of Platinum Group Elements, highlighting their potential bioaccumulation and associated health issues, especially in vulnerable populations like children, and reports no new experimental findings.
This case report highlights the diagnosis of Parry Romberg syndrome in a 52-year-old man within a primary care setting, emphasizing the importance of awareness and team discussion among family physicians for rare conditions.
July 2023 in “Clinical, cosmetic and investigational dermatology” In this study, reflectance confocal microscopy was used to diagnose periorificial dermatitis, revealing specific skin changes such as hair follicle dilatation, increased vascular density, and inflammation, which help distinguish it from similar conditions.
109 citations
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October 2007 in “American Journal of Human Genetics” This study found that postnatal treatment with recombinant EDA normalized adult teeth, improved sweating, and restored normal lacrimation in dogs with XLHED, suggesting its potential as a treatment for the condition.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.
38 citations
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January 2017 in “PPAR Research” This review discusses the role of PPAR-γ in the pathogenesis of primary cicatricial alopecia, including its involvement in lichen planopilaris and treatment trials using PPAR-agonists, and reports no new clinical results.
7 citations
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January 2025 in “Current Issues in Molecular Biology” This study found that PDRN derived from Lactobacillus rhamnosus showed superior antioxidant and wound-healing properties compared to salmon-derived PDRN, while also offering potential benefits in immune modulation and bioavailability.
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reports that structural and biochemical analysis of steroid 5α-reductases clarifies how they mediate steroid reduction with NADPH, potentially aiding in designing targeted therapies.
8 citations
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June 2013 in “Journal of bone and joint surgery. American volume/The Journal of bone and joint surgery. American volume” This commentary highlights that while platelet-rich plasma (PRP) is widely used in orthopaedic and cosmetic treatments, its effectiveness is questionable and varies with different compositions and applications.
81 citations
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February 2000 in “Anti-cancer drugs” In this pilot study, Doxil at 60 mg/m² every 4 weeks showed activity against hormone-refractory prostate cancer but was limited by severe mucocutaneous toxicities.