April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that in a mouse model of Focal Dermal Hypoplasia, treatment with lithium carbonate improved skin disease symptoms compared to controls, though disease severity varied and posed interpretation challenges.
1 citations
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April 2016 in “Journal of Investigative Dermatology” Patients with Focal Dermal Hypoplasia often experience skin, nail, hair, and bone issues, and may benefit from calcium and vitamin D supplements.
19 citations
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May 2004 in “The American Journal of Dermatopathology” In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
1 citations
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December 2023 in “Curēus” This study observed that five out of fourteen individuals aged 13-16 years, who were homozygous for the p.C282Y mutation related to hemochromatosis, had increased liver and phlebotomy-mobilized iron levels.
30 citations
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June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
62 citations
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March 2013 in “JAMA Dermatology” This case series reported that three pediatric patients with hidradenitis suppurativa showed decreased frequency and severity of disease flares after treatment with oral finasteride, with no significant adverse effects.
1 citations
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September 2024 in “Journal of the American Academy of Dermatology” Farudodstat may effectively treat alopecia areata without harmful side effects.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
4 citations
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January 2025 in “Diagnostics” This article reviews the use of high-frequency ultrasonography to visualize nail units and scalps in dermatology, highlighting its potential benefits for disease assessment and treatment monitoring, but reports no new clinical results.
29 citations
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June 2017 in “Journal of Inherited Metabolic Disease” This review discusses the potential of using high-throughput and high-content screening methods for drug repositioning in rare diseases and reports no new results.
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.
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.
12 citations
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January 2012 in “Dermatology” Finasteride helped treat a 28-year-old's facial skin condition.
29 citations
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January 2021 in “Journal of Investigative Dermatology” This study demonstrates that dermal white adipose tissue regulates human hair growth and pigmentation through hepatocyte growth factor secretion, highlighting potential therapeutic targets for hair-related disorders.
24 citations
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May 2006 in “Proceedings of the National Academy of Sciences of the United States of America” This study reported that heterozygosity for FHIT affects mice's susceptibility to spontaneous alopecia areata and to certain preneoplastic lesions induced by benzo[a]pyrene, but does not change how they respond to budesonide and N-acetyl-L-cysteine.
1 citations
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November 2023 in “Journal of Investigative Dermatology” Farudodstat may effectively treat alopecia areata without harming hair follicles.
2 citations
,
June 2018 in “International Journal of Pharmacological Research” This article reviews treatments for progeria, including aspirin, hydrotherapy, and farnesyl transferase inhibitors, but reports no new clinical results.
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.
3 citations
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September 2024 in “Journal of Microbiology and Biotechnology” This study found that human placenta hydrolysate effectively inhibited atopic dermatitis development in stimulated human cells and a mouse model, suggesting its potential as a therapeutic agent for related skin diseases.
7 citations
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October 2011 in “BMC Cancer” This study found no evidence that HDGF expression transforms melanocytes into tumors in a mouse model, although it may play a role in cell differentiation and tumor progression.
13 citations
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February 2012 in “International Journal of Dermatology” This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.
2 citations
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May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” This review discusses genetic mutations associated with Hutchinson-Gilford progeria syndrome and reports no clinical results; the authors emphasize the importance of cardiovascular monitoring in management.
January 2002 in “Agritrop (Cirad)” This study found that mutations in exon 3 of the hr gene are strongly associated with congenital hypotrichosis in Valle del Belice sheep, suggesting a potential genetic link to the disorder.
99 citations
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April 2005 in “Journal of Dermatological Treatment” This preliminary study suggests that finasteride may be an effective treatment option for patients with hidradenitis suppurativa, as six out of seven participants showed significant improvement.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that impaired Nrf2 signaling and its relationship with keratin 16 may contribute to follicular hyperkeratinization and occlusion in hidradenitis suppurativa, opening new therapeutic avenues.
1 citations
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March 2022 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that HIF-P4H-2 function in FoxD1-lineage cells is crucial for normal hair follicle development and homeostasis in mice, implicating disrupted HIF, TGF-β, and Notch signaling pathways in associated defects.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
11 citations
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October 2002 in “Genetics” This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
71 citations
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October 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents a novel in vitro assay using human folliculoid microspheres to research hair growth, which may facilitate preclinical testing of hair growth-modulatory agents.