8 citations
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May 2005 in “The American journal of dermatopathology/American journal of dermatopathology” This study observed unique ultrastructural changes in a 4-year-old girl with pili trianguli et canaliculi that may affect hair shaft surface characteristics due to inner root sheath alterations.
January 2021 in “Korean Journal of Chemical Engineering” This study found that preparing Finasteride micro and nanoparticles using a gas-antisolvent method reduced the particle size significantly.
112 citations
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August 2012 in “The American Journal of Human Genetics” In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.
44 citations
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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.
39 citations
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January 2004 in “Physiological Research” In this study, researchers reported that about one-third of men with premature alopecia displayed hormonal shifts and higher insulin resistance, resembling the prevalence pattern of PCOS in women.
38 citations
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September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified histologic lesions and a defect in adhesion molecules causing hair loss in mice with the bal mutation, linked to a mutation in the desmoglein 3 gene.
36 citations
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October 2022 in “ULTRASONOGRAPHY” This article reviews the expanding role of dermatologic ultrasonography in patient management for various skin conditions, highlighting its advantages over other imaging techniques, but reports no new findings.
23 citations
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February 2020 in “PLOS genetics” This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.
23 citations
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December 2008 in “Pediatric neurology” This study reports two new cases of Gomez-Lopez-Hernandez syndrome and suggests that trigeminal anesthesia and/or partial scalp alopecia may be key criteria for diagnosis.
21 citations
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January 2005 in “Skinmed” This article reviews the structural similarities and common disorders of hair and nails, highlighting their joint involvement in congenital and acquired conditions, but it reports no new clinical results.
10 citations
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January 2012 in “Lupus” This case report is the first to associate NEMO syndrome with systemic lupus erythematosus, suggesting a potential role for NF-kB essential modulator in the pathogenesis of SLE.
7 citations
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January 2020 in “Journal of Dermatology” This study described specific skin and hair follicle abnormalities in three Japanese patients with Cantu syndrome, which may relate to the regulation role of SUR2 in hair follicle growth.
5 citations
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February 2003 in “American Journal of Medical Genetics Part A” This case report describes a 6.5-year-old girl with a balanced chromosome translocation involving chromosomes 1 and 6, linked to developmental speech delay and features suggestive of ectodermal dysplasia.
4 citations
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August 2018 in “Journal of pediatric neurology” This article reviews Becker's nevus syndrome, covering its symptoms, causes, and cosmetic treatment options, without presenting new clinical findings.
4 citations
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March 2003 in “International Journal of Dermatology” In this case report, a white man with mental retardation and suspected sensory neural hearing loss experienced resolution of cystic lesions and partial regeneration of facial fat after 1.5 months of pimozide therapy.
3 citations
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August 2017 in “Springer eBooks” The document explains breast development, common breast conditions, and their treatments.
1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” This research re-analyzed single-cell gene expression data from a mouse model, confirming that certain genes involved in the EDA-EDAR and WNT pathways are crucial for skin appendage development, suggesting that their restoration may mitigate the effects of hypohidrotic ectodermal dysplasia in children.
1 citations
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June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
June 2026 in “Clinical Case Reports” This case report observed a 5.5-year-old girl with Ectodermal Dysplasia-Syndactyly Syndrome 1, who experienced improved hair density and thickness with topical minoxidil and tretinoin, suggesting a potential adjunctive role for topical retinoids, though confirmation in larger studies is needed.
November 2025 in “Вопросы современной педиатрии” In this case report, the researchers observed that combining growth hormone therapy with the biologic drug dupilumab effectively improved growth and health outcomes in a patient with Netherton syndrome and comorbid hypopituitarism, suggesting a multidisciplinary approach may be beneficial for managing such cases.
October 2025 in “Clinical and Experimental Pediatrics” In this case report and literature review, researchers identified a novel mutation in the CLDN1 gene linked to neonatal ichthyosis-sclerosing cholangitis syndrome and found that its phenotype varies widely, suggesting a multidisciplinary approach is crucial for management.
January 2025 in “Indian Dermatology Online Journal” This case report describes a rare presentation of nevus comedonicus following the lines of Blaschko, treated with oral isotretinoin and other therapeutic measures, resulting in a reduction of episodic painful cystic lesions.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
July 2023 in “Journal of allergy and clinical Immunology. Global” This case report describes a 10-month-old boy with VACTERL association and athymia who developed Omenn syndrome, highlighting the complex overlap of these conditions and the challenging clinical course due to profound T-cell immunodeficiency.
January 2023 in “Brazilian Journals Editora eBooks” The document concludes that Passiflora incarnata could help with anxiety, telemedicine might improve heart failure care, screen time for kids has increased, pregnant teens in Brazil are mostly okay with their body image, rare tuberculosis infection can occur after knee surgery, older and severely ill people are more likely to have long COVID-19 symptoms, HPLC might diagnose more diabetes cases, and psychiatrists should be involved in pain management.
January 2023 in “Revista Paulista de Pediatria” This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.
January 2015 in “Springer eBooks” Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
106 citations
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October 2016 in “Cell Stem Cell” This study found that PDGFA is critical for the proliferation and maintenance of adipocyte stem cells in skin but not other white adipose tissues, highlighting unique regulatory mechanisms in different tissue depots.
86 citations
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March 2018 in “ACS Biomaterials Science & Engineering” This study found that MDP hydrogel significantly accelerated wound healing and improved tissue formation in diabetic mice compared to a standard clinical hydrogel and control buffer.
29 citations
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February 2018 in “European Journal of Immunology” In this study, Treg depletion impaired skin wound healing in mice, potentially by altering the cytokine environment and expanding certain T-cell populations, disrupting the normal healing process.