19 citations
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May 1984 in “Digestive diseases and sciences” A young woman's Cronkhite-Canada syndrome improved on its own after she gave birth.
2 citations
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January 2020 in “Clinical Dermatology Review” In this study, idiopathic hirsutism was identified as the most common cause of hirsutism among the patients, followed by polycystic ovarian syndrome.
January 2017 in “Elsevier eBooks” Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
July 2025 in “Journal of Cutaneous Pathology” In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.
2 citations
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January 2014 in “Case Reports in Clinical Medicine” This case study presents an 81-year-old woman diagnosed with Cronkhite-Canada syndrome and discusses the importance of recognizing its clinical and histopathological features for timely and accurate diagnosis.
2 citations
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May 2020 in “Journal of the American Academy of Dermatology” Hair shaft changes may be linked to CCCA, but their role is unclear.
24 citations
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January 2019 in “Hormone Research in Paediatrics” This study found that gender, puberty, and BMI significantly affect hair cortisol concentrations in children, suggesting these factors should be considered in future research.
June 2017 in “Mechanisms of development” Hox genes control hair follicle stem cell regeneration in different body regions.
July 2024 in “Journal of Investigative Dermatology” Sex and race affect immune responses and treatment outcomes in Hidradenitis suppurativa.
In a human genetic study on hidradenitis suppurativa, researchers identified 12 genetic risk loci and found that CXCR4-CD74 signaling may play a key role in hair follicle inflammation, suggesting CXCR4 blockade as a potential therapeutic approach for this condition.
1 citations
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December 2023 in “JAAD International” Mast cells may significantly contribute to central centrifugal cicatricial alopecia.
19 citations
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January 2015 in “Skin appendage disorders” This study identified a new variety of central centrifugal cicatricial alopecia that includes patchy hair loss on the lateral and posterior scalp in African-American women, which could be misdiagnosed as traction alopecia without dermatoscopy and pathology.
24 citations
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January 2019 in “Theranostics” This study found that loss of the Pten gene in Lgr5+ hair follicle stem cells promoted squamous cell carcinoma formation through the Akt/β-catenin signaling pathway.
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.
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.
December 2024 in “Clinical Cosmetic and Investigational Dermatology” This study found that AA may have a protective role in the progression of both HBDC and CRC, suggesting potential new research avenues for treatments of these conditions.
17 citations
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August 2020 in “Stem Cell Research & Therapy” This study found that a 3D co-culture of endothelial colony-forming cells and adipose-derived stem cells restored stem cell properties and improved healing in a mouse model of chronic injury.
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.
December 2024 in “European journal of medical research” This study suggests that the NCSTN knockout mouse could serve as an HS animal model, with tamoxifen potentially used for gene deletion in mice.
6 citations
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July 2018 in “DOAJ (DOAJ: Directory of Open Access Journals)” This case study reports the first known instance of hepatic adrenocortical carcinoma in a virilized young woman, highlighting the importance of comprehensive evaluation to identify ectopic adrenal tumors.
4 citations
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August 2006 in “The Journal of Dermatology” This case report describes the first known association of hypertrichosis lanuginosa acquisita with autoimmune hepatitis, expanding the list of conditions linked to this rare disorder.
March 2022 in “Indian Journal of Animal Research” In this study, canine hair follicle stem cells were shown to be multipotent, capable of differentiating into various cell types like adipocytes in vitro.
April 2019 in “Journal of Investigative Dermatology” This study found that Merkel cell carcinoma recurrence risk peaks within the first two years after diagnosis and varies significantly by stage, with immune suppression, age, and male sex also influencing risk.
December 2022 in “Gastroenterology” This report describes a case of Cronkhite-Canada syndrome diagnosed in a 54-year-old man with symptoms including gastrointestinal polyps, alopecia, skin hyperpigmentation, and severe diarrhea, who experienced significant symptom improvement with azathioprine.
January 2026 in “China National GeneBank DataBase” This study found that human hair follicle-derived mesenchymal stem cells demonstrated enhanced wound healing capabilities compared to umbilical cord-derived stem cells in laboratory and animal models.
2 citations
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May 2023 in “JAAD Case Reports” This article discusses the lack of information on central centrifugal cicatricial alopecia's manifestations in Black men and reports no new clinical findings; the authors emphasize the need for further study in this population.
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.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
3 citations
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January 2019 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” This study found that idiopathic hirsutism was the most common cause of hirsutism among patients, and insulin resistance was significant in those with Hyperandrogenic Insulin Resistant Acanthosis Nigricans Syndrome.