April 2026 in “Diagnostics” In this case report, a 38-year-old woman with Parry–Romberg syndrome displayed left-sided facial atrophy and subclinical central nervous system involvement detectable by neuroimaging, suggesting that even symptom-free cases may benefit from systematic brain evaluations.
November 2025 in “Wound Repair and Regeneration” This review highlights single-cell sequencing's role in understanding macrophages' diverse functions and subtypes in skin wound healing, emphasizing macrophages' importance in tissue restoration and identifying key genes involved in the process.
September 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, FOL-026, a peptide based on osteopontin, was shown to promote angiogenesis and stimulate vascular cell proliferation and migration through neuropilin-1, similar to VEGF, suggesting potential therapeutic applications in vascular repair and angiogenesis-related conditions.
August 2022 in “Frontiers in genetics” This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.
September 2025 in “Frontiers in Genetics” This study developed a non-invasive, partially automated protocol for extracting high-quality DNA from hair follicles of marmosets, significantly reducing chimerism rates compared to blood, and proving reliable for whole genome sequencing in low-input DNA scenarios.
47 citations
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March 2016 in “Journal of dermatology” This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.
22 citations
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August 2021 in “Frontiers in medicine” This study found that monocytes/macrophages with a pro-inflammatory M1-like phenotype may play a crucial role in the pathogenesis of hidradenitis suppurativa, suggesting potential therapeutic targets.
15 citations
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March 2022 in “Frontiers in Bioengineering and Biotechnology” This study found that fucoidan significantly inhibited lung cancer cell phenotypes while sparing normal cells and altered gene expression, suggesting its potential for lung cancer therapy.
8 citations
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October 2022 in “Cold Spring Harbor perspectives in biology” The document concludes that better understanding the wound microbiome can improve chronic wound care by preserving helpful bacteria and targeting harmful ones.
2 citations
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July 2022 in “Journal of the Endocrine Society” This study identified several rare genetic variants related to insulin resistance in women with PCOS, highlighting the potential for monogenic conditions in patients with extreme or atypical phenotypes.
1 citations
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May 2018 in “Clinical chemistry” This case report described a 9-year-old girl initially suspected to have complete androgen insensitivity syndrome, whose laboratory tests later suggested an alternative diagnosis involving atypical steroid metabolism patterns and hormonal responses.
September 2025 in “JCEM Case Reports” In this case report, a 46-year-old woman initially diagnosed with 21-hydroxylase deficiency congenital adrenal hyperplasia was later identified as having 3β-HSD2 deficiency after further investigation, highlighting the need for awareness of rarer CAH forms to prevent delayed diagnosis and insufficient treatment.
February 2025 in “The Indian Journal of Animal Sciences” This study investigated a severe outbreak of mange in a goat herd in North Goa and found that treatment with Ivermectin and other supplements led to complete recovery, highlighting the need for preventive measures in hot, humid regions.
November 2023 in “Journal of Investigative Dermatology” Highly active but fewer CD14+CD16- monocytes are found in Alopecia Areata patients, regardless of severity.
This study found that dermoscopy combined with calcium fluorescent white staining effectively aided in the early diagnosis and treatment evaluation of tinea capitis by highlighting specific hair changes and fluorescent patterns associated with different dermatophyte infections in a sample of 20 patients.
The researchers reported that certain physical characteristics of hair shafts, such as length and color, may influence mtDNA read counts and degradation state when analyzed by massively parallel sequencing.
June 2024 in “Archives of Dermatological Research” In this study, significant upregulation of the genes SFRP2 and PTGDS was found in bald hair follicles of female pattern hair loss patients compared to non-bald follicles, suggesting these genes may be biomarkers and play a role in hair loss for this condition.
33 citations
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June 2016 in “Pediatric Dermatology” This review examines hair shaft disorders, reporting limited evidence for treatments like minoxidil and oral retinoids, and emphasizes gentle hair care and genetic counseling for managing congenital cases.
4 citations
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January 2025 in “Dermatologica Sinica” This consensus from the Taiwanese Dermatological Association suggests that for mild to moderate alopecia areata, first-line treatments may include topical or intralesional corticosteroids, possibly with topical minoxidil, while severe cases might require systemic corticosteroids or Janus kinase inhibitors.
July 2025 in “Cell & Bioscience” Specific immune cells and pathways contribute to hair follicle inflammation and hair loss, suggesting potential treatments for lichen planopilaris.
April 2018 in “Journal of Investigative Dermatology” This study found that palmoplantar pustulosis patients exhibited oral dysbiosis, particularly among those with pustulotic arthro-osteosis, as compared to healthy controls.
April 2017 in “Journal of Investigative Dermatology” This study reports a new optimized protocol for isolating and labeling single cells from neonatal mouse skin, enabling high-quality single cell RNA sequencing for lineage-specific cell analysis.
69 citations
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May 2002 in “Journal of Investigative Dermatology” This study suggests that congenital atrichia with papular lesions may be more common than previously thought and proposes diagnostic criteria including the observation of hypopigmented whitish streaks on the scalp.
22 citations
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January 2020 in “Veterinary dermatology” This review discusses the unique characteristics and taxonomy of Malassezia yeasts and examines current diagnostic and therapeutic approaches in veterinary medicine; it reports no new clinical findings.
16 citations
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June 2017 in “Advances in Therapy” This review summarizes recent research on alopecia areata, highlighting advances in targeted therapies due to improved understanding of its immunopathogenesis, though it reports no new clinical results.
3 citations
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January 2025 in “BMC Medical Informatics and Decision Making” This study suggests that novel diagnostic, preventive, and treatment approaches for autoimmune diseases like alopecia areata may be developed by identifying hub genes, and highlights the usefulness of machine learning and bioinformatics in finding new disease biomarkers.
1 citations
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January 2024 in “Journal of clinical medicine” This literature review highlights the changing epidemiology of tinea capitis due to global migration and underscores the importance of early recognition and treatment of atypical variants in immunocompetent children to minimize prolonged systemic antifungal therapy and prevent adverse events, especially regarding liver health.
1 citations
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November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
This dissertation reported that the loss of Ovol2 impairs hair follicle regeneration and wound repair in mice, highlighting its role in regulating directional migration of epithelial cells.
10 citations
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November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.