January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This case report describes an 8-year-old boy with neurofibromatosis type one presenting with the rare conditions of trichothiodystrophy and retinal atrophy.
23 citations
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July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
15 citations
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May 2013 in “Ophthalmic Plastic and Reconstructive Surgery” In this case study, repetitive botulinum type A toxin injections led to almost complete resolution of severe chronic pain in a patient with Parry-Romberg syndrome.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
April 2025 in “Experimental Eye Research” In this study, researchers characterized the retinal structure and function of the Oatrhg mouse model of gyrate atrophy, finding localized atrophy without significant retina-wide functional impact, suggesting the model may be useful for testing new treatments using multimodal retinal imaging.
67 citations
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December 2013 in “Journal of Biological Chemistry” This review discusses the role of the enzyme Δ9-desaturase-1 in skin lipid regulation and whole-body energy balance in mice and reports no new experimental results.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
3 citations
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February 2001 in “British journal of ophthalmology” This case report presents a 28-year-old woman with alopecia universalis and macular dystrophy, highlighting a potential new linkage between these conditions without previously identified associated genes.
67 citations
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August 2007 in “American Journal of Pathology” This study found that overexpression of the mineralocorticoid receptor in a mouse model led to premature epidermal barrier development, keratinocyte apoptosis, and postnatal alopecia, indicating new roles for MR signaling in skin physiology.
6 citations
,
August 2014 in “Toxicologic pathology” This study found that prolonged inhibition of DGAT1 in mice and dogs led to atrophy of sebaceous glands, with mice also experiencing alopecia, suggesting potential skin-related risks for humans using DGAT1 inhibitors.
4 citations
,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
91 citations
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November 2008 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that DGAT1 functions as a key enzyme in murine skin to regulate retinoic acid levels and prevent retinoid toxicity, impacting hair cycle and sensitivity to retinol.
50 citations
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September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” This review examines the role of retinoic acid synthesis in hair follicles and sebaceous glands, focusing on its localization and function during normal and disease states, but reports no new results.
10 citations
,
September 2019 in “Experimental Eye Research” This review discusses the role of RDH12 in vision, its structural and functional aspects, and related disease mechanisms, but reports no new clinical results; it aims to support therapy development for inherited retinal dystrophies.
March 2021 in “Indian Journal of Case Reports” This case report describes a young adult female with late-stage Vogt-Koyanagi-Harada disease featuring panuveitis, retinal detachment, hearing loss, alopecia, and vitiligo, who was successfully treated in a hospital.
258 citations
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July 2005 in “Journal of lipid research” This study found that DGAT1 exhibits additional acyltransferase activities in vitro, including MGAT, wax synthase, and ARAT activities, suggesting these could be relevant to its in vivo functions.
1 citations
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October 2021 in “Journal of Medical Case Reports” This case report describes a possible association between topical 5% minoxidil use and inferior hemiretinal artery occlusion in a 21-year-old Asian Indian male with androgenic alopecia.
September 2025 in “Cureus” In this case study, a 24-year-old female with Parry-Romberg syndrome showed significant craniofacial asymmetry, delayed dental development, and other symptoms without neurological deficits; orthodontic treatment is used to improve occlusion and facial balance.
134 citations
,
January 2011 in “Development” This study found that disrupting Adam10 in the epidermis led to severe skin and multi-organ abnormalities, implicating Adam10 as crucial for proper Notch signaling and skin maintenance.
December 2025 in “Open Repository of the University of Porto (University of Porto)” Pharmacists play a crucial role in improving patient outcomes through personalized care and staying updated with scientific advancements.
This study found that proretinal nanoparticles, applied topically, are safe and effective for penetration into hair follicles, enhancing retinoid biological activity in the skin while reducing irritation compared to conventional retinal formulations.
This article reviews various cosmetic and skincare products used in dermatology for preventive and treatment purposes, highlighting their role in conditions such as atopic dermatitis, photoaging, and male pattern baldness, but reports no new results.
39 citations
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July 2008 in “Dermatologic Therapy” This review provides a practical approach to diagnosing pseudopelade of Brocq and updates on treatment options but reports no new clinical results.
69 citations
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June 2016 in “Journal of Investigative Dermatology” This study found sebaceous gland atrophy and altered gene expression in psoriatic skin lesions, which may relate to the observed hair loss in these areas.
50 citations
,
November 2010 in “Otolaryngologic Clinics of North America” This review discusses the oral manifestations associated with hematologic conditions and nutritional deficiencies, without presenting new research results; it emphasizes the impact of blood disorders and vitamin deficiencies on oral health.
3 citations
,
March 2022 in “Medicine” This case report described a patient with unilateral branch retinal artery occlusion due to previously undiagnosed systemic lupus erythematosus, where systemic immunotherapy led to significant visual improvement and resolution of macular edema.
6 citations
,
April 2022 in “Biomedicine & pharmacotherapy” This review discusses the potential of using triads of repositioned medicines targeting multiple pathogenic mechanisms to prevent or delay retina degeneration, but reports no new results.
1 citations
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April 2023 in “Canadian journal of ophthalmology” This case report highlights the risk of retinal injuries from laser epilation, emphasizing the importance of practitioner training and protective eyewear to prevent irreversible vision damage.
June 2023 in “University of Thi-Qar Journal of Science” This review discusses the various uses of retinoids, derived from vitamin A, in cosmetic and dermatological treatments for conditions like acne, psoriasis, and skin aging. The authors emphasize retinoids' limited use due to their susceptibility to degradation and safety concerns, particularly with retinoic acid.
1 citations
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July 2025 in “Journal of Clinical Medicine” In this review, experts discuss the low but significant risk of serious eye complications from popular minimally invasive cosmetic procedures like fillers and botulinum toxin injections, underscoring the need for awareness, careful patient selection, and adherence to safe practices to help prevent these outcomes.