45 citations
,
May 2022 in “Biomedicines” This review discusses using human follicular fluid in metabolomic analysis as a diagnostic tool and predictor of success in assisted reproductive technology for PCOS patients, reporting no new results.
4 citations
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February 2022 in “PeerJ” This study found that hair follicle mesenchymal stem cells improved liver function and pathology in a mouse model of liver cirrhosis, potentially by inhibiting the TGF-β/Smad pathway and reducing hepatic stellate cell activation.
30 citations
,
January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
2 citations
,
September 2021 in “Anais Brasileiros de Dermatologia” Increased sunscreen use may be linked to frontal fibrosing alopecia in Hispanic females.
1 citations
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July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this open-label trial, Tofacitinib was well tolerated and improved IFN and cytokine scores, as well as overall skin pathology, in individuals with Down syndrome and immune skin conditions.
2 citations
,
January 2016 in “Dermatology online journal” This case report describes a 46-year-old man diagnosed with frontal fibrosing alopecia, a condition primarily affecting postmenopausal women, highlighting its rare occurrence in men.
October 2025 in “Dermatology Practical & Conceptual” In this study, UVFD and sUVRD techniques revealed distinctive characteristics of GD lesions, suggesting that GD might be more common in younger individuals and females than previously thought, possibly due to underdiagnosis. Incorporating dermatoscopy in exams may help improve GD detection and management.
4 citations
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January 2020 in “Skin appendage disorders” This case report describes a unique presentation of frontal fibrosing alopecia characterized by a hair loss pattern that resembles the Greek letter upsilon, supported by trichoscopic and histological findings.
15 citations
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January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
April 2023 in “World Journal Of Advanced Research and Reviews” This study in Morocco found that all women with frontal fibrosing alopecia presented frontotemporal hairline recession, with trichoscopic features such as perifollicular erythema and follicular hyperkeratosis being indicative of the condition, and suggested a potential link between cosmetic products or emotional factors and the disease.
151 citations
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December 2004 in “Annals of the New York Academy of Sciences” This review discusses nonclassical 21-hydroxylase deficiency as the most common autosomal recessive disorder in humans and highlights the effectiveness of glucocorticoid treatment in reversing related symptoms.
24 citations
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August 2019 in “Journal of the American Academy of Dermatology” Teledermatology reduces unnecessary in-person visits and improves care.
In this report, a 22-year-old woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency underwent treatment with hydrocortisone and spironolactone, followed by feminization surgery, which subsequently led to the development of secondary sexual characteristics and regular menstruation.
November 2020 in “Journal of the American Academy of Dermatology” Intense pulsed light with radiofrequency showed mixed results in improving quality of life for hidradenitis suppurativa patients, with no clinical improvements.
3 citations
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July 2020 in “International Journal of Molecular Sciences” This study reported that molecules from Zebrafish embryo cell differentiation can counteract neurodegeneration, regenerate tissues, and potentially reverse hair follicle damage in androgenetic alopecia.
April 2019 in “Journal of Investigative Dermatology” Targeting immune pathways like JAK/STAT may help treat frontal fibrosing alopecia.
5 citations
,
March 2023 in “Archives of dermatological research” This study found that hidradenitis suppurativa is associated with increased serum levels of hypoxia-inducible factor-1α, suggesting its role in the disease's pathogenesis and as a treatment target.
September 2024 in “Journal of the American Academy of Dermatology” PRO-C22 can help diagnose and monitor the severity of hidradenitis suppurativa.
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.
December 2016 in “Anales del sistema sanitario de Navarra” This case study reports successful treatment of frontal fibrosing alopecia with daily 2.5mg finasteride in a 77-year-old woman.
2 citations
,
January 2020 in “Elsevier eBooks” The document concludes that individualized Facial Feminization Surgery plans and comprehensive care are crucial for successful outcomes.
This study demonstrated that the differential wetting characterization (DWC) method can effectively differentiate changes in the wetting properties of hair fibers after chemical or physical treatment.
1 citations
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June 2023 in “The FASEB journal” This study found that in mice, LSD1 interacting with HSP90 accelerates skin wound healing by enhancing HFSC glycolytic metabolism, proliferation, and differentiation via the c-MYC/LDHA axis.
2 citations
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June 2024 in “Skin Appendage Disorders” This study identifies specific trichoscopic features such as empty follicles and perifollicular erythema in Caucasians with frontal fibrosing alopecia, which may assist in diagnosis and monitoring, but stresses the need for further research due to limited demographic data.
32 citations
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June 2013 in “Journal of Investigative Dermatology” This study found that reducing HDAC1 activity in the skin of mice led to defects in hair follicle structure and pigmentation, highlighting HDAC's role in skin and hair maintenance.
April 2020 in “Journal of the Endocrine Society” This case report emphasizes the importance of recognizing non-classic congenital adrenal hyperplasia as a cause of hyperandrogenism and the need for genetic counseling given potential familial implications.
475 citations
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October 2006 in “Proceedings of the National Academy of Sciences” This study suggests that folliculin, mutated in Birt–Hogg–Dubé syndrome, and its partner FNIP1 may play a role in energy and nutrient sensing through the AMPK and mTOR pathways.
June 2026 in “International Journal of Drug Delivery Technology” In this study, researchers optimized fast-dissolving tablets of nifedipine using a systematic approach, resulting in formulations that demonstrated rapid disintegration, enhanced dissolution profiles, and improved solubility, potentially improving oral delivery for patients requiring poorly soluble antihypertensive medication.
June 2025 in “Journal of Kufa for Chemical Sciences” In this study, researchers observed increased hormone levels such as testosterone and LH in both obese and non-obese women with Polycystic Ovary Syndrome, but concluded that the enzyme 3βHSD shows poor diagnostic value for PCOS compared to healthy women.
This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.