March 2007 in “The FASEB Journal” This observational study reports a striking correlation between the use of henna hair dye and a specific pattern of hair loss, termed "hennapecia," but calls for experimental research to determine causality.
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.
January 2017 in “Journal of clinical & experimental dermatology research” This report describes a case of HAIR-AN syndrome in a young woman, characterized by acanthosis nigricans, insulin resistance, and polycystic ovaries, highlighting its rarity and multisystem nature.
26 citations
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April 2007 in “Journal of pediatric gastroenterology and nutrition” This case report describes an adolescent girl with polycystic ovarian syndrome and endogenously elevated androgen levels who developed a hepatic adenoma, suggesting a link between the two conditions.
23 citations
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July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
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.
32 citations
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June 2019 in “Frontiers in Endocrinology” This review discusses the overlapping clinical features and diagnostic challenges of non-classic adrenal hyperplasia and polycystic ovary syndrome without presenting original research findings.
October 2024 in “Journal of the Endocrine Society” This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.
10 citations
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May 2017 in “Clinical and experimental dermatology”
The text is about acne, excessive hair growth, and hair loss due to hormones.
February 2026 in “Advanced Science” This study found that the combination of TTNPB and CHIR99021 enhanced the derivation of highly advanced neural stem cells from human pluripotent stem cells, with improved chromatin accessibility and neuroectodermal gene expression, and these cells successfully engrafted in rat hippocampi to ameliorate depression-like symptoms.
54 citations
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May 1998 in “Urology” This study demonstrates that patients with benign prostatic hyperplasia have a higher severity and frequency of male pattern baldness compared to a control group.
1 citations
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September 2025 in “Viruses” This study of HCPS survivors in Chile found that 61.9% reported incomplete recovery at 3-6 months post-symptom onset, with ECMO users experiencing more motor dysfunction and palpitations, highlighting the need for multidisciplinary care to address persistent symptoms.
In this study, Norwegian researchers followed over 350 patients with porphyria cutanea tarda for an average of 7 years and found that 25% experienced biochemical relapse, suggesting the importance of routine follow-up for early detection and management.
This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.
June 2022 in “Indian journal of clinical and experimental opthalmology” This case report details the ocular complications of Hutchinson-Gilford Progeria syndrome in a 20-year-old Bangladeshi patient, highlighting symptoms like dry eyes, Meibomian gland dysfunction, and cataracts.
April 2017 in “Journal of Investigative Dermatology” This study found that the PON1 192 R allele was associated with an increased risk of psoriasis and altered lipid profiles in patients from Western Mexico.
January 2015 in “International Journal of Research in Medical Sciences” This case report is the first to associate HAIR-AN syndrome with polycystic ovaries, Hashimoto’s thyroiditis, and several metabolic conditions in a 21-year-old woman, emphasizing early diagnosis and management.
October 2025 in “Clinical Case Reports” This case report challenges the traditional view by documenting reversible vision loss following scalp injections of platelet-rich plasma, attributed to an inflammatory or microvascular event, treatable with corticosteroids.
3 citations
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July 2021 in “Aesthetic Plastic Surgery” This case series observed that the combination of platelet-rich plasma and fat grafting improved hair quality and density in patients with non-scarring alopecia, with effects visible by 12 weeks and sustained up to one year.
April 2019 in “Journal of the Endocrine Society” This case study highlights the importance of considering broad causes when evaluating hot flashes in middle-aged men, as it detailed a pituitary macroadenoma causing secondary hypogonadism in a man presenting with such symptoms.
5 citations
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May 2022 in “Lara D. Veeken” This study reports the first case of diverse medium-sized visceral arterial aneurysms in a patient with functionally impaired A20, potentially linked to HA20, and its atypical presentation in East Asia.
August 2016 in “Journal of Investigative Dermatology” This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.
55 citations
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August 2008 in “Reviews in endocrine and metabolic disorders” This review discusses clinical, hormonal, and genetic aspects of nonclassic adrenal hyperplasia and reports no new findings; the condition is highlighted as a potential cause of premature adrenarche and other symptoms in young people.
January 2026 in “Research Square (Research Square)” This systematic review reports that HAIR-AN syndrome, characterized by severe insulin resistance, hyperandrogenism, and distinctive skin issues, significantly impacts obese women and can improve with treatments like metformin, emphasizing the importance of targeted management to reduce metabolic complications.
2 citations
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April 2013 in “Expert Review of Endocrinology & Metabolism” This review discusses the challenges in diagnosing different causes of adult androgen excess and outlines current screening and management strategies but reports no new findings.
August 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This article discusses how activating the hexosamine pathway may enhance skin homeostasis by increasing hyaluronic acid secretion and supporting hair follicle stem cell self-renewal, but reports no new results.
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.
3 citations
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March 2010 in “Dermatologica Sinica” This study reports the first case of atrichia with papular lesions in a Taiwanese family without a detectable mutation in the HR gene.
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.