January 2024 in “SAGE Open Medical Case Reports” In this study, exome sequencing revealed that two brothers with ichthyosis, born to consanguineous parents, had NIPAL4 autosomal recessive congenital ichthyosis, while the older brother's blindness resulted from separate mutations in the peroxidasin gene, which were also found in an unaffected sister.
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.
5 citations
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September 2015 in “Nepalese journal of ophthalmology” This case report highlights an 11-year-old girl with dermatopathia pigmentosa reticularis, identifying associated Salzmann's nodular degeneration of the cornea and emphasizing the need for a multidisciplinary management approach.
January 2025 in “Open Life Sciences” This study observed that transgenic mice with overexpression of HE4 developed keratitis and severe corneal opacity, suggesting that HE4 may significantly influence keratopathy and inflammatory responses in the eye.
9 citations
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September 2021 in “Stem Cell Reviews and Reports” This study concluded that hair-derived stem cells from older donors may offer a promising alternative for autologous corneal endothelial replacement, potentially benefitting patients of various age groups.
18 citations
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July 2001 in “Australian veterinary journal” This case study describes a cat with concurrent cutaneous xanthomas, demodicosis, and dermatophytosis, which suggests potential primary hyperlipidaemia as the underlying cause for its symptoms.
1 citations
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April 2024 in “Journal of Clinical Medicine” This study found that patients with severe alopecia areata demonstrated reduced corneal sensitivity and increased corneal staining, and exhibited altered topographic and biomechanical eye parameters compared to controls, suggesting a possible increased risk of keratoconus and the necessity for regular ophthalmological exams.
25 citations
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October 2007 in “Developmental biology” In this study, transgenic mice altered to express a Clim-inhibiting molecule under a keratin promoter showed corneal degradation and hair follicle failure, highlighting Clim proteins' role in maintaining these tissues.
June 2022 in “Indian journal of clinical and experimental opthalmology” This case report details the ocular complications of Hutchinson-Gilford Progeria syndrome in a 20-year-old Bangladeshi patient, highlighting symptoms like dry eyes, Meibomian gland dysfunction, and cataracts.
4 citations
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January 1992 in “American Journal of Ophthalmology”
11 citations
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February 2004 in “Clinical and Experimental Ophthalmology” In this case report, the authors suggest an association between prolonged finasteride use and anterior subcapsular cataracts, as observed in a 43-year-old man, marking the first reported instance.
7 citations
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February 2004 in “Clinical and Experimental Ophthalmology” This case report details a 65-year-old woman who developed malignant melanoma in her right eye socket following previous eye trauma, treated by orbital exenteration.
34 citations
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July 2022 in “Gels” This review explores the potential of alginate as a promising alternative to donor tissue for corneal transplantation due to its adaptability, transparency, and low immunogenicity, and discusses how chemical modifications can enhance its properties for use in corneal tissue engineering.
22 citations
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April 2012 in “The American journal of pathology” This study found that the loss of Msx2 in knockout mice led to phenotypes similar to Peters anomaly and microphthalmia, suggesting that MSX2 plays a critical role in anterior segment development of the eye.
6 citations
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February 2004 in “Clinical and Experimental Ophthalmology” This case report indicates that retinoblastoma can occur in a microphthalmic eye and recommends using multiple imaging techniques due to potential differences in calcification visibility.
1 citations
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September 2022 in “Canadian Journal of Ophthalmology” This study presents cases of paraproteinemic keratopathy associated with multiple myeloma and MGUS, highlighting varied treatment responses and the need for long-term follow-up to better understand disease progression and management.
January 2021 in “arXiv (Cornell University)” This study found that self-supervised pretraining significantly improves accuracy in medical image classifiers for dermatology and chest X-ray tasks, outperforming supervised baselines and showing robustness to distribution shifts with limited labeled data.
6 citations
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January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
147 citations
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January 2003 in “American journal of clinical dermatology” This review discusses various forms of ichthyosis, including genetic and acquired types, detailing their characteristics, causes, and potential management strategies, but reports no new clinical results.
July 2023 in “Journal of medical and health studies” This case study reported on a 3-year-old child with vitamin D-dependent rickets type II treated in the Gaza Strip, whose condition deteriorated despite vitamin D and calcium treatments, leading to recurrent chest infections, respiratory failure, and eventual death.
This article reviews different generations of synthetic retinoids for dermatological use, discussing their efficacy and significant side effects, but reports no new clinical results.
January 1982 in “Journal of The American Academy of Dermatology” Experts discussed treatments for skin conditions in children, emphasizing hydration, cautious medication use, and early intervention for infections.
29 citations
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May 2011 in “Journal of Cataract and Refractive Surgery” This case report suggests a possible association between long-term finasteride use for male pattern baldness and the development of cataracts and intraoperative floppy-iris syndrome in a patient.
24 citations
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May 2012 in “International Journal of Dermatology” This review discusses the various causes and associations of eyelash trichomegaly, including congenital syndromes, acquired conditions, and drug effects, without reporting new clinical results.
23 citations
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February 2004 in “Clinical and Experimental Ophthalmology” This case report describes a 68-year-old woman with metastatic breast cancer who experienced significant improvement in visual acuity after stopping tamoxifen, which was associated with bilateral optic neuropathies.
20 citations
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February 2004 in “Clinical and Experimental Ophthalmology” This paper presents two cases of rare intraorbital ophthalmic artery aneurysms associated with arteriovenous malformations and discusses their clinical presentation, pathogenesis, and management, but reports no new clinical outcomes.
13 citations
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February 2004 in “Clinical and Experimental Ophthalmology” This report describes the clinical and histopathological features of lipoid proteinosis in a brother and sister with lid lesions, highlighting the importance of recognizing such lesions for diagnosis.
9 citations
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February 2004 in “Clinical and Experimental Ophthalmology” This report documents the second known case of Castleman's disease in the lacrimal gland, diagnosed in an 84-year-old woman through histological examination after excising a left upper lid mass.
5 citations
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February 2004 in “Clinical and Experimental Ophthalmology” This study presents two cases correlating the clinical appearance of adult-onset foveomacular vitelliform dystrophy with optical coherence tomography findings, describing the location of the yellow vitelliform material.
126 citations
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January 1987 in “Journal of The American Academy of Dermatology” This article reviews the classification of hair shaft abnormalities, outlining their diagnostic features, but does not present new research findings.