44 citations
,
January 1999 in “Dermatology” This article reviews different perspectives on nevus comedonicus, discussing its classification and potential associations with systemic findings, but it reports no new results.
41 citations
,
November 2019 in “Journal of Ultrasound in Medicine” This study found that 70-MHz ultrasound can detect early signs of hidradenitis suppurativa linked to severity, including hair follicle abnormalities and keratin fragmentation, aiding in diagnosis and management.
37 citations
,
August 2011 in “Journal of Bone and Mineral Research” This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.
January 2025 in “Clinical Dermatology Review” In this case report, a 16-year-old female with Netherton syndrome, a rare genetic disorder, exhibited symptoms such as skin issues, hair abnormalities, and elevated serum IgE levels. The diagnosis was supported by skin biopsy, and treatment included topical therapies, NB-UVB, and infliximab.
January 2024 in “Advances in Dermatology and Allergology” This review explores the inflammatory pathogenesis and clinical presentation of hidradenitis suppurativa, highlighting the complexity of treatment and the impact on patients' quality of life, while also examining emerging therapeutic options.
April 2025 in “Cellular and Molecular Biology” This study found that human dermal stem/progenitor cells demonstrated greater proliferation and differentiation potential than hair follicle dermal papilla cells, which showed increased expression of hair regeneration markers.
9 citations
,
August 2021 in “Experimental dermatology” This review examines the dysregulation of innate immune barriers in the early stages of hidradenitis suppurativa and calls for further research on the role of the hair follicle and immune responses, but reports no new results.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.
6 citations
,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.
28 citations
,
August 2003 in “Steroids” This study found that untreated hirsute patients have lower expression of type 2 17β-HSD mRNA in scalp hairs, indicating potential disturbances in androgen metabolism, compared to treated hirsute patients.
April 2020 in “BMC endocrine disorders” This case report describes a 65-year-old woman with childhood-onset growth hormone deficiency who developed panhypopituitarism, including late-onset secondary hypoadrenocorticism, affecting her respiratory and renal function.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
4 citations
,
January 2016 in “Methods in molecular biology” This study found that hair-follicle-associated pluripotent stem cells can promote nerve repair and growth in a 3D culture model and potentially differentiate into cardiac muscle cells, offering advantages over other stem cell types for regenerative medicine.
6 citations
,
June 2016 in “Journal of cellular biochemistry” This study found that the mammalian Hr protein can interact with the p53 pathway by binding to a specific p53 response element, influencing the regulation of genes involved in cell cycle control.
4 citations
,
January 2021 in “Archives of dermatological research” This study developed a new human hair research model combining 3D spheroid dermal papilla fibroblasts with plucked anagen hair shafts, potentially improving the evaluation of hair follicle differentiation.
176 citations
,
June 2016 in “PLoS ONE” In these initial clinical studies, NAP monotherapy showed significant reductions in HBsAg levels among patients with chronic HBV, suggesting potential as part of future combination therapies.
13 citations
,
May 1996 in “Archives of Disease in Childhood” This study found that patients with non-classical 21-hydroxylase deficiency do not appear to be at risk of short adult stature despite increased bone age in childhood.
4 citations
,
December 2024 in “JAAD Case Reports” This review discusses previously reported cases of drug-associated hidradenitis suppurativa linked to various immunomodulating medications but reports no new clinical results.
3 citations
,
March 2016 in “Experimental Dermatology” This study found that a hypomorphic mutation in the Hr gene contributes to the development of diet-induced pruritic atopic skin in mice, particularly when combined with dietary deficiencies of polyunsaturated fatty acids and starch.
2 citations
,
May 2016 in “Journal of dermatology” This letter discusses tissue expansion for correcting alopecia in a child with hypohidrotic ectodermal dysplasia, but provides no new experimental results.
January 2016 in “Methods in molecular biology” This study identified a population of GFP-expressing nestin-positive cells in transgenic mice hair follicles that varied in location during different hair cycle phases, suggesting a shared relationship with neural stem cells.
27 citations
,
May 2007 in “Archives of dermatological research” In this study, alopecia areata patients treated with diphencyprone showed a significant increase in CD8 lymphocytes around hair bulbs, which may be associated with hair regrowth.
September 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This research introduces the MHS Hair Restoration Protocol, which is a comprehensive approach aimed at restoring the hair follicle environment by modulating the gut-microbiome-endocannabinoidome axis and incorporating specific dietary and topical strategies, rather than focusing only on short-term hair count improvements.
3 citations
,
August 2018 in “Stem cells international” This study found that cultured hair follicle dermal cells support maintenance and potentially aid in the clinical application of pluripotent and haematopoietic stem cells.
8 citations
,
April 2024 in “Psychoneuroendocrinology” January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.
October 2007 in “Clinical Biochemistry” This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.
112 citations
,
January 2013 in “Experimental dermatology” This article offers a viewpoint on hidradenitis suppurativa pathogenesis, suggesting that impaired Notch signalling from γ-secretase mutations may drive inflammation and link the condition to other Th17-driven diseases.
June 2025 in “Molecular Genetics & Genomic Medicine” This study found that among children with 21-hydroxylase deficiency, there is a strong correlation between severe genetic variants and clinical outcomes, but the correlation weakens with milder variants, indicating the limitations of relying solely on NGS for diagnosis.
This study found that polycystic ovary syndrome was the most common cause of hirsutism among premenopausal Algerian women, affecting nearly 60% of participants.