4 citations
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March 2005 in “Archives of Pathology & Laboratory Medicine” This case report describes a basal cell carcinoma arising in association with a vellus hair cyst, which the authors note has not been previously reported.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study generated a transcriptomic map of human hair follicles, identifying compartment-specific gene expression profiles that can aid in developing targeted therapies for hair follicle disorders.
7 citations
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December 2015 in “International Journal of Dermatology” In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.
May 2025 in “Frontiers in Genetics” This study reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.
April 2019 in “Journal of the Endocrine Society” This case study reported that even with improved adrenal androgens and testosterone levels, treating women with AH-PCOS with glucocorticoids did not significantly improve ovulatory function or hirsutism.
June 2016 in “The Egyptian Journal of Fertility and Sterility” This review discusses strategies for managing hirsutism in PCOS, highlighting lifestyle changes, hormonal treatments, and the importance of patient-centered care, but reports no new clinical results.
May 2017 in “Journal of The American Academy of Dermatology” A woman with a skin disorder was found to have hepatitis C, which may be linked, and was safely treated with methotrexate.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.
3 citations
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January 2013 in “Dermatology” This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.
June 2026 in “Journal of Investigative Dermatology” This study reported that the anti-γc antibody hC2 restored hair follicle homeostasis and suppressed hair loss in an AA-like mouse model by inhibiting autoreactive T-cell activity, suggesting that hC2 may offer a safer and more effective treatment for alopecia areata compared to current Jak inhibitors.
39 citations
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January 2019 in “Cells” This review discusses the molecular mechanisms of Hutchinson-Gilford progeria syndrome and evaluates current research trends, available mouse models, and prospects for developing therapies, but reports no new clinical findings.
January 2002 in “Linchuang pifuke zazhi” This report describes an unusual case of proliferating trichilemmal cyst with trichoepitheliomatous change in a young woman, differing from its typical presentation in elderly women.
3 citations
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April 2018 in “Journal of Investigative Dermatology” CCCA may be a fibroproliferative disorder, and anti-fibrotic therapies could help.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
10 citations
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January 2018 in “International journal of trichology” This case report highlights the importance of histopathological examination in accurately diagnosing eruptive vellus hair cyst due to its rarity and resemblance to other conditions.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.
3 citations
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May 2013 in “PubMed” This review discusses Hutchinson-Gilford progeria syndrome, highlighting its phenotype, pathogenesis, and its potential insights into natural aging and cardiovascular diseases, but it reports no new research findings.
March 2026 in “Journal of Investigative Dermatology” This study identified CCCA in 10 children of African descent, highlighting the occurrence of this scarring alopecia in patients under 18 and the importance of early diagnosis for better outcomes.
August 2023 in “JAAD international” This study, conducted at Montefiore Medical Center, reports that central centrifugal cicatricial alopecia predominantly affects middle-aged Black or African American women, often presenting without symptoms, which may delay diagnosis and treatment. The study underscores the need for a specific ICD-10 code for better epidemiological studies.
January 2026 in “Biomaterials”
11 citations
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January 2016 in “The Journal of Sexual Medicine” This study found that young women with nonclassic congenital adrenal hyperplasia had impaired sexual function and mild depressive symptoms compared to healthy women.
This article reviews current understanding of Hutchinson–Gilford Progeria Syndrome and suggests RNA-based treatments show promise, but no new clinical findings are reported.
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.
January 2023 in “Annals of Dermatology” This study found that alopecia areata patients with a CCHCR1 gene variant had higher recurrence rates and structural abnormalities in hair compared to those without the variant.
16 citations
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April 2018 in “Current opinion in gynecology and obstetrics” The study observed that Hispanic women with PCOS had significantly higher odds of having NASH compared to non-Hispanic women, suggesting routine screening may be beneficial in this high-risk group.
20 citations
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September 2013 in “Anti-Cancer Drugs” In this study, PTH-CBD effectively prevented and partially reversed chemotherapy-induced alopecia in mice, with pretreatment offering a better cosmetic outcome compared to therapeutic administration after hair loss onset.
55 citations
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March 2000 in “American journal of clinical dermatology” Antiandrogens, particularly flutamide and CPA, are most effective for treating hirsutism, with long-term use needed for best results.
17 citations
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January 2015 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” This report presents a case of Cronkhite-Canada syndrome in an elderly Indian male, adding to the approximately 450 cases documented worldwide, but introduces no new results about the condition.
28 citations
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February 2007 in “Cancer Research” This study found that inhibiting C/EBP transcription factors in mouse skin reduced papilloma formation and caused systemic hair loss, suggesting C/EBP may be a potential therapeutic target.