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.
March 2024 in “Journal of pharmacopuncture” In this study, a patient with stress-induced Alopecia areata treated eight times with Hominis Placenta Pharmacopunture showed new terminal hair growth and a reduced lesion size, suggesting potential effectiveness of this treatment for the condition.
January 2014 in “대한피부과학회지” This case study in a hepatitis B patient observed that pegylated interferon alpha2a treatment may induce localized alopecia areata, which appeared to correlate with treatment administration and discontinuation.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
2 citations
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December 2024 in “Clinical Endocrinology” This study suggests that persistent symptoms in patients with controlled functioning adenomas may indicate a coexisting PCOS diagnosis, highlighting the need for precise differentiation and timely management of these conditions.
July 2025 in “Frontiers in Medicine” This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.
50 citations
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January 1941 in “Annals of Internal Medicine” Idiopathic hypoparathyroidism is rare and can be managed with dihydrotachysterol.
4 citations
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November 2024 in “Journal of Advanced Research” In this study, the researchers reported that NMMHC IIA dissociates from PAR1 and activates the CREB3/ARF4 pathway, worsening thrombin-induced blood-brain barrier damage, suggesting it as a potential therapeutic target for blood-brain barrier-related diseases.
January 2025 in “ACS Applied Materials & Interfaces” In this study, a nanoparticle system codelivering diphenylcyclopropenone and rapamycin successfully induced immune tolerance and promoted hair regrowth in a mouse model of alopecia areata, offering a promising new therapeutic strategy for this autoimmune condition.
3 citations
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July 2021 in “Life science alliance” This study observed that disrupting the Pnkp gene in adult mice resulted in a premature aging-like phenotype, suggesting PNKP's vital role in maintaining normal growth and survival of certain progenitor cell populations.
November 2016 in “Hair transplant forum international” This article summarizes Dr. Alan Jacobs's presentation at the 2016 ISHRS World Congress but reports no new research findings.
60 citations
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May 2011 in “Endocrinology and Metabolism Clinics of North America” This article discusses the association between hypertension and polycystic ovary syndrome, highlighting the need for managing related risk factors, but reports no new clinical results.
21 citations
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January 2018 in “Anticancer Research” This study suggests that NBCCS and BFHS may be the same genetic condition, which could help improve identification and management of misdiagnosed cases with specific surveillance strategies.
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.
May 2023 in “Pharmaceuticals” In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.
4 citations
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March 2011 in “European Journal of Dermatology” Trauma can cause fat inflammation and abnormal hair growth.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
This abstract is a navigation and policy notice for a website and does not contain any research findings.
7 citations
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February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
October 2022 in “Deleted Journal” This case study reports intracranial hypertension in a 60-year-old woman linked to prolonged intake of low-dose Vitamin A from propolis capsules, highlighting a potential risk even at lower dosages.
6 citations
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May 2012 in “Archives of Dermatological Research” This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.
1 citations
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October 2023 in “Heliyon” In this study, the researchers reported a new case of Hutchinson-Gilford progeria syndrome with a novel LMNA mutation and successful surgical intervention for airway obstruction.
1 citations
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September 2007 in “European journal of paediatric neurology” Low dose valproic acid treatment caused hair loss in a young patient.
January 2025 in “Current Allergy and Asthma Reports” 1 citations
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July 2025 in “BMC Medicine” The authors concluded that establishing and standardizing methods for data collection are crucial to improving PCOS diagnosis and research due to challenges observed in data harmonization across diverse international cohorts.
10 citations
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May 2020 in “Advances in Polymer Technology” This study found that melatonin-loaded nanoparticles improved antidepressant effects and HPA axis regulation in pinealectomized rats, compared to free melatonin, through controlled-release properties.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
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.