40 citations
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August 2005 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” In this case report, a 3-year-old male with IFAP syndrome showed moderate improvement in skin symptoms and corneal erosions but no change in alopecia or photophobia after 6 months of acitretin therapy.
34 citations
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July 2020 in “American journal of human genetics” This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
33 citations
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April 2020 in “Journal of Clinical Investigation” This study found that hair follicle stem cells from hidradenitis suppurativa patients showed alterations in cell cycle regulation and DNA replication, potentially linking genetic predisposition to the skin inflammation characteristic of the disease.
29 citations
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December 2022 in “Journal of Nanobiotechnology” In this study, IFN-γ-stimulated iPSC-derived mesenchymal stem cell extracellular vesicles improved atopic dermatitis in mice by reducing Th2 cytokine activity, suppressing inflammation, and restoring skin barrier function, as evidenced by decreased itching and inflammatory markers.
20 citations
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November 2005 in “Journal of Investigative Dermatology Symposium Proceedings” This study found that IFN-γ plays a critical role in T cell activation and the pathogenesis of alopecia areata in C3H/HeJ mice.
16 citations
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August 2002 in “Journal of Interferon and Cytokine Research” In this case study, hypertrichosis in a patient with hemophilia and hepatitis C may have been induced by IFN-alpha treatment, despite the drug usually causing hair loss.
14 citations
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April 2021 in “International journal of molecular sciences” This study found that human hematopoietic mesenchymal stem cells increased the viability and migration of human outer root sheath cells in an in vitro alopecia areata model, involving Wnt/β-catenin and JAK/STAT pathways.
11 citations
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September 2014 in “International Journal of Molecular Sciences” This study found that mycophenolate may stabilize β-catenin and counteract interferon-γ-induced catagen changes in human dermal papilla cells, which could promote hair growth.
10 citations
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September 2021 in “The FASEB Journal” This study found that ACKR2 plays a crucial role in reducing inflammatory skin fibrosis and promoting inflammation resolution through IFN‐β production, limiting tissue scarring.
5 citations
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January 2015 in “Case reports in medicine” In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.
4 citations
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January 1987 in “Beiträge zur Onkologie/Contributions to oncology” This study reported a 21% partial remission rate in patients with advanced soft tissue sarcomas treated with ifosfamide combination chemotherapy, with no complete remissions observed.
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.
3 citations
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January 2023 in “JEADV Clinical Practice” This study suggests that IL-17 may play a more significant role than IFN-γ in the pathogenesis of chronic alopecia areata, with increasing severity linked to Th17 lymphocytes and cytotoxic T lymphocyte infiltration.
3 citations
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January 1990 in “Cancer chemotherapy and pharmacology” Topical thiols may prevent hair loss caused by certain chemotherapy drugs.
2 citations
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March 2023 in “3C Empresa Investigación y pensamiento crítico” In this study, patients with alopecia areata showed significantly elevated serum levels of IFN-γ and severely deficient vitamin D3 levels compared to healthy controls.
1 citations
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August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.
1 citations
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April 2016 in “Journal of Investigative Dermatology” This study suggests that NKG2D+ Vδ1 T cells may contribute to hair follicle pathology in alopecia areata by recognizing stressed keratinocytes and inducing immune privilege collapse.
June 2024 in “Clinical Endocrinology and Metabolism” This article examines when it is appropriate to prescribe estrogen for women with hormonal imbalances, utilizing decades of clinical practice, expert consultation, and a comprehensive literature review.
August 2023 in “Clinical Endocrinology and Metabolism” This article provides evidence on when it is appropriate to prescribe hormone therapy for women by reviewing cases from the author's practice and international literature, emphasizing the importance of primary care in managing hormonal imbalances.
April 2017 in “Journal of Aesthetic Nursing” This editorial in the Journal of Aesthetic Nursing discusses the rise in unethical practices in the medical aesthetics field, particularly by non-health professionals offering high-level cosmetic procedures, and calls for experienced practitioners to voice their concerns in person to influence regulatory practices.
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April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
April 2023 in “Journal of Investigative Dermatology” This research explored the roles of various T cell types in chronic alopecia areata, finding that increased severity of lesions and hair loss may be linked to decreased lesional Foxp3+ Tregs, with a notable role for IL-17 and Th17 lymphocytes in the pathological process.
July 2026 in “The Journal of Immunology” This study in a murine model of alopecia areata found that IFNg is crucial while perforin is not necessary for CD8 T cell-mediated disease development.
April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” In this report, a unique female presentation of IFAP syndrome is described, featuring musculoskeletal contractures but no photophobia, highlighting the importance of early detection and multidisciplinary care to improve outcomes and prevent disability.
October 2025 in “Science Advances” In this study, researchers demonstrated that CD4 T cells from skin-draining lymph nodes in mice with alopecia areata can transfer the disease to recipient mice, revealing a critical role for CD4 T cells in disease development and suggesting potential therapeutic targets.
July 2025 in “Journal of Investigative Dermatology” Candida auris uses the immune response to colonize hair follicles.
In this study, researchers found that CD4 T cells from the skin draining lymph nodes of mice with alopecia areata can transfer the disease to recipient mice, highlighting the key role of these cells and their interaction with CD8 T cells in the disease's development.
April 2024 in “Biosaintifika Journal of Biology & Biology Education” In this study, researchers observed that a topical gel containing 20% hypoxia mesenchymal stem cell secretome significantly reduced IL-15 and IFN-γ mRNA expression and baldness by 60% in male Wistar rats with fluconazole-related alopecia.