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 2026 in “Dermatologic Therapy” In this prospective study, ritlecitinib effectively reduced hair loss in patients with severe alopecia areata, with 43.3% of participants achieving a 20 or lower SALT score by week 24, and showed a good midterm safety profile.
January 2026 in “Nutrición Hospitalaria” In this study, researchers identified significant signals indicating previously unrecognized risks of lipid metabolism abnormalities for several drugs, urging the need for better monitoring and label updates.
December 2023 in “Biointerface Research in Applied Chemistry” This study used molecular docking to identify stiripentol as a potential new inhibitor of the SRD5A2 enzyme, which is targeted for treating androgen-related diseases; however, in vivo trials are needed to validate its efficacy.
April 2019 in “Journal of Investigative Dermatology” This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
4 citations
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August 2006 in “The Journal of Dermatology” This case report describes the first known association of hypertrichosis lanuginosa acquisita with autoimmune hepatitis, expanding the list of conditions linked to this rare disorder.
June 2024 in “British Journal of Dermatology” This study reported that while both DLQI and HADS showed moderate correlations, only DLQI correlated with clinician-assessed disease severity in patients with alopecia.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
45 citations
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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.
May 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that intracrine androgen signaling, mediated by steroid 5α-reductase, is essential for optimal decidualization and vascular development in the endometrium during pregnancy, indicating potential targets for improving age-related fertility issues.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.
1 citations
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August 2024 in “British Journal of Dermatology” This study found that after 15 months of treatment with ritlecitinib, patients with alopecia areata and less than 95% initial hair loss experienced significant hair regrowth, though those with more extensive hair loss showed more variable improvement.
2 citations
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July 2015 in “Case Reports in Dermatology” In this case study, DDS treatment for LABD was complicated by hemolytic anemia and alopecia, suggesting the need for careful monitoring of these potential side effects.
4 citations
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November 2022 in “Frontiers in endocrinology” This study found that intracrine androgen signaling via 5α-reductase is essential for optimal endometrial decidualization and vascular development during this process in mice.
1 citations
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
3 citations
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August 2010 in “Letters in Drug Design & Discovery” July 2023 in “SKIN The Journal of Cutaneous Medicine” This study found that some patients with alopecia areata who did not respond to ritlecitinib treatment by Week 24 achieved a positive response with continued therapy by Week 48, with tolerable side effects.
May 2025 in “CPT Pharmacometrics & Systems Pharmacology” This study examined the safety profile of ritlecitinib, a drug for alopecia areata, and found that it does not cause significant QTc prolongation or severe lymphopenia, with no unique safety risks expected in adolescents.
48 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that retinoic acid biosynthesis and signaling in hair follicles have a spatial and temporal regulation linked to distinct stages of the hair cycle in mice.
March 2024 in “Journal of drugs in dermatology” This study evaluated the safety and effectiveness of HASHA, a new hyaluronic acid injectable, for chin augmentation in adults with chin retrusion. HASHA significantly improved chin appearance and satisfaction over 12 months compared to controls, with only mild or moderate transient adverse events.
7 citations
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April 2019 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that 11α-hydroxyprogesterone is a potent inhibitor of 11βHSD2 in vitro and may serve as a precursor to unique C11α-hydroxy steroids in prostate cancer tissue.
April 2018 in “Journal of Investigative Dermatology” This study found that the RNA helicase DDX6 is essential for maintaining self-renewal in epidermal progenitor cells by promoting the translation of proliferation regulators and degrading differentiation-inducing mRNAs.
7 citations
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October 2024 in “Journal of the American Academy of Dermatology” This source reported that patients who initially responded to ritlecitinib treatment showed sustained hair regrowth through week 48, with up to one-third of those not meeting target efficacy at week 24 also achieving a response with continued treatment.
June 2026 in “Precision medicine and engineering.” In this study, researchers created a hydrogel that reduces oxidative stress and releases a pro-angiogenic drug in response to enzyme activity, which accelerated healing and improved tissue regeneration in chronic diabetic wounds during in vivo experiments.
108 citations
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October 2009 in “Javma-journal of The American Veterinary Medical Association” Foals with Rhodococcus equi infection often have other health problems that lower their chances of survival.
November 2014 in “International Society of Hair Restoration Surgery” This announcement explains the Fellow designation for hair restoration surgeons meeting specific educational criteria, without reporting new research findings.
4 citations
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January 2018 in “International Journal of Trichology” This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.
10 citations
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September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
29 citations
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May 2018 in “Clinical Endocrinology” This review discusses the differential diagnosis of low-renin hypertension and highlights recent genetic discoveries related to familial forms, but it presents no new clinical results.
September 2013 in “Hair transplant forum international” This article discusses the formation and membership of the British Association of Hair Restoration Surgeons and reports no clinical findings.