13 citations
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January 1985 in “International Journal of Dermatology” This study compared trichostasis spinulosa with keratosis pilaris and eruptive vellus hair cysts, finding differences in lesion distribution and microscopic appearance.
June 2024 in “Frontiers in pharmacology” This study found that a 2-deoxy-D-ribose gel stimulated hair follicle growth in mice with androgenic alopecia, showing effects similar to minoxidil without additional benefits from combining the two treatments.
June 2025 in “Journal of the Pakistan Medical Association” In this study, researchers explored the use of a 2-deoxy-D-ribose sodium alginate hydrogel on mice with androgenic alopecia and found it resulted in similar hair regrowth to minoxidil, highlighting increased hair follicle density and angiogenesis.
July 2023 in “Clinical, cosmetic and investigational dermatology” In this study, reflectance confocal microscopy was used to diagnose periorificial dermatitis, revealing specific skin changes such as hair follicle dilatation, increased vascular density, and inflammation, which help distinguish it from similar conditions.
This study concluded that the combination of all-trans-retinoic acid and tocopherol-α is not recommended for treating del(5q) myelodysplastic syndromes due to low efficacy and high incidence of adverse effects.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified novel genetic variants in APOE ε4 non-carriers associated with Alzheimer's disease age-of-onset, linking them to regulatory mechanisms like the unfolded protein response in the pathology of Alzheimer's and other degenerative diseases.
18 citations
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September 2016 in “International Journal of Molecular Sciences” This study reports that PDRN, commonly used for wound healing, may also have anti-melanogenesis and potential skin whitening effects in both experimental models and clinical settings.
3 citations
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August 2020 in “Cutaneous and Ocular Toxicology” This study demonstrated that adenosine triphosphate may prevent vandetanib-induced skin toxicity in rats, suggesting potential for further research in other animal models and humans.
This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
1 citations
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September 2021 in “Journal of Cosmetic Dermatology” This study found that the ACE gene I/D polymorphism may serve as a genetic susceptibility indicator for androgenetic alopecia in an Egyptian patient group.
27 citations
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October 2011 in “British Journal of Dermatology” This study builds on previous findings by associating female pattern hair loss with gene polymorphisms related to oestrogen activity, suggesting oestrogen's role in the condition.
1 citations
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April 2018 in “Journal of Investigative Dermatology” This study found that FZD2 is crucial for hair follicle formation and postnatal growth in mice and has a novel role in regulating early epidermal development, including stratification and cornification.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.
January 1993 in “Di-Si Junyi Daxue xuebao” This study found that type III collagen was significantly more abundant in the recovering traumatic skin of guinea pigs compared to normal skin, indicating it may play a role in tissue repair.
13 citations
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June 2024 in “Frontiers in Genetics” This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.
In this case report, researchers diagnosed a 12-year-old girl with a nevus sebaceus of Jadassohn, characterized by a yellowish-pink plaque on the scalp and a genetic variant, following previous misdiagnosis as alopecia areata.
December 2023 in “JCEM case reports” In this study, researchers identified a novel genetic variant in the NR3C1 gene in a mother and her son that predicts a truncated protein, leading to glucocorticoid resistance syndrome with mild hyperandrogenic features, although no clear genotype-phenotype correlation has been established.
21 citations
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March 2014 in “Clinical and experimental dermatology” This study observed a potential relationship between the canonical Wnt signalling pathway and the expression of the vitamin D receptor in alopecia, suggesting a link worth further exploration.
2 citations
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September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
August 2025 in “American Journal of Case Reports” In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.
September 2025 in “International Journal of Molecular Sciences” This review reports on the potential for deucravacitinib, an oral TYK2 inhibitor approved for psoriasis, to treat various immune-mediated diseases, with emerging research suggesting possible uses in neurodegenerative diseases and certain cancers.
5 citations
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January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
August 2022 in “Brain and Development” In this case report, a nine-year-old girl with both chronic inflammatory demyelinating polyneuropathy and alopecia universalis showed improvement in muscle weakness and hair loss after treatment with intravenous immunoglobulin and corticosteroids.
August 2020 in “European Journal of Dermatology” This study identified three EDAR gene variants potentially linked to hypohidrotic ectodermal dysplasia in three Pakistani families, which could aid in genetic counseling for similar cases.
10 citations
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January 2010 in “Acta dermato-venereologica” Light therapy can effectively treat vitiligo and hair loss caused by a specific medication.
6 citations
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June 2023 in “Journal of the European Academy of Dermatology and Venereology” This study observed that inflammatory AIGA is associated with sweat duct inflammation and sweat coil atrophy, while non-inflammatory AIGA involves only sweat coil atrophy, suggesting distinct pathological features between the two.
43 citations
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April 2010 in “Clinical genetics” This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.
47 citations
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May 1994 in “Experimental Brain Research” This study observed that innervation of the mystacial pad in rats by fine-caliber axons is more extensive and complex than previously described, with distinct differences in labeling patterns depending on the tracer and survival time.
65 citations
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March 2004 in “Journal of Clinical Investigation” In this study, overexpression of ornithine decarboxylase accelerated basal cell carcinoma in Ptch1+/– mice under UVB exposure, while its inhibition reduced tumor induction, suggesting potential chemoprevention strategies in humans.
January 2026 in “Skin Research and Technology” The study's findings on VLDL as a biomarker for hair loss are unreliable.