18 citations
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January 2013 in “PLoS ONE” This study identified several significant genetic variants associated with alopecia universalis, including a novel association with HLA-DRB5, which may play a hidden role in the disease.
January 2011 in “대한피부과학회지” This article reports a case of trichothiodystrophy in a 7-year-old girl with sulfur deficiency in her hair, characterized by sparse, slow-growing hair and distinctive tiger tail banding under microscopy.
1 citations
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August 2020 This study found that mutations affecting hair keratin expression on Chromosome 15 in mice may cause altered hair and skin features similar to other known mouse mutations.
27 citations
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January 1995 This study found that higher melanin concentration in black hair offers photoprotection against sunlight-induced protein damage in the cortex, whereas the cuticle experiences similar photodamage regardless of hair pigmentation.
January 2013 in “Journal of dermatology” This letter to the editor raises the possibility of a new medical entity characterized by symptoms such as poikiloderma, hyperpigmentation, alopecia, malformed bones, lymphedema, and decreased cortisol, but provides no clinical results.
72 citations
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March 2005 in “British Journal of Dermatology” In this case series, researchers observed androgenetic alopecia in 20 prepubertal children with a strong genetic predisposition, despite the condition typically not occurring before puberty.
18 citations
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January 2010 in “Dermatology Research and Practice” This case report describes a 30-year-old Brazilian male who developed vitiligo lesions following diphencyprone therapy for alopecia areata.
7 citations
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January 2011 in “Veterinary Pathology” In this case report, a 9-year-old horse was diagnosed with alopecia areata contributing to Malassezia dermatitis, involving lymphocyte infiltration and symptoms consistent with yeast presence.
This case report describes a pediatric instance of follicular atopic dermatitis in a dark-skinned patient, highlighting its unique clinical and dermoscopic features, such as purplish to brownish scaly papules and specific dermoscopic patterns, which are crucial for enhancing diagnostic accuracy in similar cases.
July 2024 in “Journal of Investigative Dermatology” The Fas/FasL pathway may play a role in alopecia areata.
6 citations
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January 2003 in “Dermatology” This study reviewed 26 cases of X-linked recessive ichthyosis and observed 11 patients with advanced-stage androgenetic alopecia, suggesting a compensatory role of two steroid biosynthesis pathways.
13 citations
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February 2012 in “International Journal of Dermatology” This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.
4 citations
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October 2023 in “Children” This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.
4 citations
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July 2025 in “Frontiers in Immunology” This study explored peripheral blood immune dysregulation in alopecia areata through single-cell analyses, identifying systemic changes linked to disease severity and key signaling roles for monocytes, NK cells, and memory T cells, suggesting potential therapeutic targets.
January 2015 in “British journal of medicine and medical research” This case report describes a patient with systemic sclerosis and severe alopecia areata who experienced complete resolution of hair loss within four months after treatment with topical steroids, minoxidil, and mycophenolate mofetil.
15 citations
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August 2022 in “The Application of Clinical Genetics” This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.
February 2013 in “Journal of the American Academy of Dermatology” This study found that certain polymorphisms in EGF and EGFR genes may increase susceptibility to alopecia areata in the Korean population, and these genetic variations could be associated with specific symptoms such as nail involvement and body hair loss.
1 citations
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January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed a mouse model to mimic PHGDH gene copy number gain, finding that increased PHGDH expression leads to abnormal melanin production, which may offer insights into its role in melanoma.
September 2023 in “Nature communications” This study found that VE-cadherin and Alk1, traditionally linked to vascular functions, also play crucial roles in maintaining nerve homeostasis in mice during hair growth cycles by modulating certain cell populations.
September 2025 in “Journal of Dhaka Medical College” This study found that patients with alopecia areata had significantly lower serum 25-Hydroxy vitamin D levels compared to healthy controls, and observed a significant inverse relationship between vitamin D levels and disease severity.
7 citations
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January 2009 in “Immunological investigations” This report describes a rare case of alopecia areata universalis developing in a child during the recovery phase of phenobarbital-induced anti-convulsant hypersensitivity syndrome, which suggests a mechanism involving lymphocyte-related immune responses.
March 2013 in “Pigment Cell & Melanoma Research” This study revealed that different coat patterns in cats and cheetahs are related to variations in the aminopeptidase Q gene and endothelin-3 expression, which affects pigment production.
March 2003 in “中華皮膚科醫學雜誌” This report describes a patient with trichothiodystrophy exhibiting both specific hair abnormalities and developmental delay, contributing to the understanding of this rare disorder's clinical presentation.
3 citations
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April 2021 in “Cureus” In this study, 62.7% of patients with alopecia areata had deficient vitamin D levels, yet there was no significant link between these levels and specific alopecia areata patterns.
2 citations
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March 2025 in “Journal of Translational Autoimmunity” This study reports that AhR pathway expression is significantly reduced in lymphocytes of alopecia areata patients, suggesting its potential as a diagnostic marker and therapeutic target.
14 citations
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December 2010 in “Journal of human genetics” This study identified a severe MBTPS2 gene mutation in a Japanese patient with IFAP syndrome, suggesting other factors may influence the varied clinical severity of the condition.
12 citations
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December 2016 in “The FASEB Journal” This study found that the absence of vitamin D receptor-mediated suppression of PPARγ expression causes hair loss in VDR-null mice.
May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This research discusses a zebrafish model showing that nicastrin deficiency leads to tyrosinase-dependent depigmentation and melanophore cell death, suggesting implications for studying skin depigmentation disorders.
September 2018 in “CRC Press eBooks” This review explores the trichoscopic features of dark scalp, particularly the brown honeycomb pigment network, and its variations in different types of alopecia, but it presents no new clinical findings.
February 2025 in “Journal of the European Academy of Dermatology and Venereology” This study found that ultraviolet-induced fluorescence dermoscopy enhanced the identification of follicular openings in alopecia areata, potentially aiding in the assessment of disease severity and treatment strategies.