August 2025 in “American Journal of Case Reports” In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.
May 2024 in “International Journal of Molecular Sciences” This study found that injecting mouse hair follicle-derived mesenchymal stem cells (moMSCORS) into C57BL/6 mice reduced the incidence and severity of type 1 diabetes by modulating immune responses, suggesting potential for therapeutic use due to their immunosuppressive effects.
October 2025 in “Journal of the Endocrine Society” This case report documented the management of a 46-year-old female with Marine-Lenhart syndrome, combining antithyroids with minimally invasive sclerotherapy to achieve euthyroidism and reduce thyroid nodule size by 58%.
June 2006 in “Experimental dermatology” This paper reviews potential animal models for studying hidradenitis suppurativa, specifically suggesting that certain mouse models with genetic mutations might be useful, but it reports no new experimental findings.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that activating the hexosamine pathway increased hyaluronic acid secretion and hair follicle stem cell numbers in vitro, suggesting its role in modulating skin homeostasis.
This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.
This study found that hair cortisol concentrations in mother-daughter pairs are a potential biomarker for cortisol responses to chronic stress, with daughter-mother similarities affected by parenting styles and children's symptoms.
5 citations
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November 2021 in “Saudi medical journal” This report describes three Saudi sisters with Woodhouse-Sakati syndrome, who exhibited typical features of the condition along with unusual gynecological anomalies.
30 citations
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June 2017 in “Current stem cell research & therapy” This review discusses the potential of adipose-derived stem cells for hair regeneration and suggests that these cells and their conditioned media may offer a promising strategy for treating hair loss.
1 citations
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September 2019 in “Journal of Investigative Dermatology” This study found that combining human dermal papilla fibroblasts with hair matrix cells formed organoids capable of limited hair follicle development in ex vivo skin, but not fully formed hair follicles.
14 citations
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March 2018 in “The American journal of case reports” This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
April 2019 in “Journal of the Endocrine Society” This study found that androgen-regulated genes in hidradenitis suppurativa skin lesions are strongly linked to innate immunity pathways, indicating a potential connection between androgen signaling and inflammation in this condition.
January 2026 in “JCEM Case Reports” This case report presents a rare instance of recurrent ACTH-independent Cushing’s syndrome due to PBMAH, coinciding with the development of a pheochromocytoma, highlighting the need for thorough reevaluation in similar recurring cases.
28 citations
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August 2020 in “F1000Research” This review discusses the multifactorial pathogenesis of hidradenitis suppurativa and calls for more diverse, standardized clinical trials to improve treatment and understanding of dietary influences, reporting no new results.
2 citations
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March 2021 in “Journal of Cosmetic Dermatology” This study found that human umbilical cord-derived mesenchymal stromal cell-conditioned media was safe and positively affected hair regeneration in 86.6% of participants in a pilot study.
December 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study revealed that Patched receptors establish a Hedgehog signaling gradient in developing hair follicles, which may influence their formation and potentially offer a diagnostic tool for distinguishing Hedgehog-driven tumors.
43 citations
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September 2001 in “Annals of Neurology” This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.
April 2024 in “Research Square (Research Square)” This study found that bioconjugating 16-methylheptadecanoic acid (16-MHA) to damaged hair can mimic the protective properties of 18-methyleicosanoic acid (18-MEA), restoring the hair's structural integrity and moisture homeostasis, even after washing.
2 citations
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July 2022 in “Stem cell research & therapy” This study found that a large number of pelage hair follicle mesenchymal stem cells can be efficiently isolated using two-step Ficoll Density Gradient Sedimentation, promoting hair growth by secreting exosomes in mice.
41 citations
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September 2010 in “Journal of dermatological science” This study suggests that mesenchymal stem cell-induced dermal papilla-like tissues can generate new hair follicles in mice, indicating potential for developing hair cell therapy using stem cells.
December 2024 in “Clinical and Experimental Dermatology” This study found that patients with central centrifugal cicatricial alopecia preferred shared decision-making with their doctors regarding treatment management.
7 citations
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July 2023 in “International Journal of Molecular Sciences” In this study, human nucleus pulposus cells treated with hyaluronic acid showed increased proliferation and reduced oxidative stress compared to those treated with EDTA-PBS, suggesting a potential role for hyaluronic acid in enhancing intervertebral disc therapy.
3 citations
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June 2018 in “Internal Medicine” In this study, a patient with Cronkhite-Canada syndrome complicated by severe sepsis and disseminated intravascular coagulation was successfully treated using combined therapies, including recombinant human soluble thrombomodulin, despite the absence of a standard treatment regimen for CCS.
5 citations
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September 2023 in “Journal of Cosmetic Dermatology” This study found that c-Maf positive M2 macrophages may promote hypertrophic scar formation by enhancing the proliferation, migration, and extracellular matrix deposition of hypertrophic scar fibroblasts through increased TGF-β1 expression.
256 citations
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March 2019 in “Journal of the American Academy of Dermatology” This review provides graded evidence and a therapeutic algorithm for managing hidradenitis suppurativa, but does not present new clinical results.
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.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
20 citations
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June 2020 in “Stem Cell Research & Therapy” This study found that treating acute and chronic canine skin wounds with adipose-derived mesenchymal stem cells significantly improved healing and reduced inflammation, suggesting potential benefits for human wound care.
49 citations
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August 1999 in “Journal of Investigative Dermatology” In this study, transgenic mice expressing Msx-2 developed flaky skin with hyperproliferation and misalignment in epidermal cells, suggesting Msx-2 plays a role in skin and appendage growth control.