June 2025 in “Dermatologic Surgery” Surgery can effectively treat severe eyelid turning out caused by a rare skin disorder.
13 citations
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January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
55 citations
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April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
September 2015 in “Philippine Journal of Internal Medicine” Recognizing and treating overlap syndrome in connective tissue diseases is crucial.
8 citations
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September 2022 in “Human genomics” Key genes and pathways involved in thyroid eye disease were identified, aiding potential treatment and diagnosis.
3 citations
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February 2001 in “British journal of ophthalmology” An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
May 2025 in “Cermin Dunia Kedokteran” Leukokoria can signal Coats disease or other retinal issues, requiring early detection to prevent severe outcomes.
27 citations
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February 1988 in “Journal of the American Academy of Dermatology” The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
January 2023 in “Bio web of conferences/BIO web of conferences” The document concludes that specific dermoscopic features can help diagnose different facial red skin conditions.
June 2021 in “Nepalese Journal of Ophthalmology” A 62-year-old woman got a lump on her eyelid from tiny mites, which is the first time this has happened.
Limbal Mesenchymal Stem Cell Secretome might help heal eye injuries by reducing inflammation and promoting tissue repair.
12 citations
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October 2016 in “Anais Brasileiros de Dermatologia” Frontal Fibrosing Alopecia may be linked to autoimmune diseases like Sjögren's syndrome.
18 citations
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March 2014 in “Journal of Pharmacological and Toxicological Methods” The animal models successfully simulated dry eye related to sex steroid deficiency.
2 citations
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October 2014 in “Orbit” Lacrimal gland inflammation and alopecia areata can happen together due to autoimmune issues.
September 2023 in “Journal of the American Academy of Dermatology” Bullous pemphigoid can look like erythema multiforme, so awareness is needed for proper treatment.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
2 citations
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December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
January 2016 in “International journal of basic and clinical pharmacology” Steroid use can cause a rare eye condition called central serous retinopathy, which can lead to permanent vision damage.
September 2024 in “Clinical Case Reports” Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
June 2014 in “The Journal of Dermatology” A patient with a rare chromosome condition also had a rare type of hair loss.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
22 citations
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June 2011 in “Acta Ophthalmologica” Certain medications like α1-blockers, benzodiazepines, and finasteride increase the risk of floppy iris syndrome during cataract surgery.
February 2023 in “Vlaams dierengeneeskundig tijdschrift” Two young cats with a severe ear and skin condition improved with immune system-targeting treatments.
September 2025 in “Case Reports in Ophthalmology” Short-term use of topical minoxidil can cause eye issues, but stopping it can resolve the problem.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
37 citations
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January 2023 in “Ophthalmology and Therapy” Low-level red light therapy can shorten eye length in some myopic children.
32 citations
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January 2015 in “Annals of diagnostic pathology” The document concludes that recognizing oral lesions is important for diagnosing syphilis.