July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
October 2021 in “Journal of Investigative Dermatology” This study found no significant difference in SARS-CoV2 IgG seroconversion rates between patients with immune-mediated inflammatory diseases treated with targeted immune-modulating therapies and those on conventional systemic treatments.
3 citations
,
October 2006 in “Journal of dermatology” This study reported that X-ray microscopy provides more intact images of hair's internal structure compared to transmission electron microscopy, particularly for observing fine details like cuticle coarsening and cortex cracks.
3 citations
,
December 1991 in “PubMed” This report describes an infant who was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder characterized by diverse skin changes, short stature, and other developmental anomalies.
6 citations
,
January 2022 in “Lara D. Veeken” This narrative review discusses the role and importance of rheumatologists in managing autoimmune interstitial lung disease and emphasizes the need for enhanced collaboration with respiratory physicians to improve diagnosis, management, and outcomes; no new clinical results are reported.
9 citations
,
May 2002 in “PubMed” This study demonstrated that mice lacking skin-specific RXRalpha expression developed hair follicle degeneration and alopecia, indicating the importance of RXRalpha/VDR heterodimers in maintaining hair follicle homeostasis.
1 citations
,
November 2023 in “Rice” This study found that PRX102, a peroxidase with a unique polar localization pattern, plays a role in root hair growth by aiding the transport of materials to the tips of growing root hairs.
33 citations
,
January 2018 in “Blood” This study found that topical ruxolitinib protected Lgr5+ skin stem cells and maintained skin homeostasis in skin GVHD, unlike corticosteroids.
January 2025 in “Case Reports in Genetics” The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.
January 2025 in “Dermatology Reports” This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.
December 2025 in “Journal of Human Immunity” In this case report, a 37-year-old patient with APECED showed significant clinical improvement, including hair regrowth and resolution of skin issues, after 11 months of treatment with ruxolitinib, highlighting the potential of JAK inhibitors in managing this complex autoimmune disease.
1 citations
,
November 2020 in “International Journal of Dermatology” In this case report, the authors suggest that methotrexate-induced rheumatoid papular eruption is a rare side effect of methotrexate, resolved after discontinuation, which may be linked to rheumatic conditions.
34 citations
,
September 1997 in “Acta Dermato Venereologica” This study found that RXR agonists stimulated human hair follicle growth and survival in vitro, suggesting potential for promoting hair growth in humans.
January 2024 in “Wiadomości Lekarskie” In this study, a child's diagnosis of Silver-Russell syndrome was confirmed through phenotype data, genetic testing, and the exclusion of other developmental conditions, revealing a need for a multidisciplinary care approach.
May 2010 in “OPAL (Open@LaTrobe) (La Trobe University)” This research discusses potential cancer vaccine strategies using cell-based and DNA vector-based approaches, and suggests targeting the v3 splice variant of thioredoxin reductase 1 to inhibit cancer cell motility and metastasis formation.
January 2026 in “Journal of Dermatology & Dermatologic Surgery” In this case report, a 26-year-old man with alopecia universalis, resistant to multiple standard treatments, achieved complete and sustained hair regrowth with ruxolitinib, highlighting its potential as a promising option for patients with refractory AU.
December 2025 in “Dermatology Reports” This source describes vitiligo as a chronic condition marked by the loss of skin pigmentation and discusses leukotrichia, a feature affecting 10% to 60% of cases, which arises from melanocyte loss in hair follicles and appears as well-defined white patches on the skin.
1 citations
,
May 2001 in “Journal of Labelled Compounds and Radiopharmaceuticals” Scientists at the University of Michigan Medical School successfully created a special compound that can be used to improve imaging of prostate cancer.
8 citations
,
May 2018 in “Primary Care: Clinics in Office Practice” This review details common symptoms of rheumatic diseases and how to differentiate them from other conditions based on patient history and physical examination.
July 2025 in “Clinical Case Reports” In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.
46 citations
,
May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the state-of-the-art knowledge on pseudoxanthoma elasticum, summarizing recent advancements in genetics, pathomechanisms, and potential treatments but reports no new clinical findings.
8 citations
,
September 1987 in “Acta Dermato Venereologica” In this study, the researchers used structural studies and molecular calculations to suggest that the enzyme in RXLI patient hair follicles is less efficient, rather than completely inactive.
12 citations
,
January 2009 in “Breast Cancer Basic and Clinical Research” This study found that the combination of mammography and hair X-ray diffraction increased sensitivity for detecting breast cancer compared to using each method alone.
January 2019 in “Medicine Science | International Medical Journal” This study found that specific skin lesions are common indicators of pediatric rheumatologic diseases, potentially aiding dermatologists and rheumatologists in diagnosis when biopsies are challenging.
67 citations
,
August 2004 in “Endocrinology” This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.
January 2004 in “Drug Development and Industrial Pharmacy” This study explored the solubility and crystal structure of GI197111X, a 5-alpha reductase inhibitor for androgenetic alopecia, finding its solubility in Capmul MCM suitable for a soft gel dosage form.
18 citations
,
February 2010 in “Odontology” This report describes Rabson-Mendenhall syndrome cases in two siblings and briefly reviews the literature, highlighting insulin receptor gene mutations as the underlying cause.
11 citations
,
January 1976 in “International Journal of Radiation Biology and Related Studies in Physics Chemistry and Medicine” This study found that a single X-radiation treatment in rat skin reduced collagen concentration over multiple hair-cycles by diminishing the fibroblasts' capacity for proline hydroxylation, potentially contributing to delayed skin lesions.
August 2018 in “Journal of The American Academy of Dermatology” A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
November 2024 in “Skin Appendage Disorders” This review provides insights and guidelines for clinicians and patients on assessing the risks and benefits of ritlecitinib for adolescents with alopecia areata, emphasizing shared decision-making and management strategies.