12 citations
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January 2001 in “Der Hautarzt” Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
19 citations
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May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
August 2018 in “Journal of The American Academy of Dermatology” A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
70 citations
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November 2020 in “The Ocular Surface” Organoids and organ chips can improve eye disease research and treatment.
September 2025 in “BMJ Case Reports” Platelet-rich plasma therapy may rarely trigger herpes zoster ophthalmicus.
July 2025 in “Dermatology Practical & Conceptual” Topical eyedrops may cause eyelash whitening and skin lightening around the eyes.
A rare case of hypotrichosis with juvenile macular dystrophy (HJMD) was identified in a six-year-old Saudi girl with sparse scalp hair and progressive vision loss. Born to consanguineous parents, she exhibited symptoms from birth, including decreased night vision and cone-rod dysfunction. Genetic analysis revealed a homozygous missense mutation, c.1918T>G (p.Cys640Gly), in the CDH3 gene. This finding contributes to the understanding of the genetic spectrum of HJMD in Saudi Arabia, highlighting the importance of genetic evaluation in patients with similar clinical features.
15 citations
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August 2002 in “British Journal of Ophthalmology” Intralesional cidofovir might be a viable alternative treatment for certain conditions.
Retinoids can help reduce keratin buildup in skin conditions.
June 2025 in “Veterinární Medicína” Uveodermatological syndrome in dogs is hard to manage and can lead to blindness despite treatment.
18 citations
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January 1988 in “Acta oncologica” Retinol palmitate may reduce cancer relapses in early-stage lung cancer patients.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
November 2024 in “Medicina” Recognizing scalp symptoms in PRP is crucial for proper diagnosis and treatment.
June 2025 in “Dermatologic Surgery” Surgery can effectively treat severe eyelid turning out caused by a rare skin disorder.
May 2013 in “Optometry and vision science” The document discusses challenges in eye care, including treating melanoma before macular hole repair, bloody tears resolved by blood pressure control, eyelash regrowth in hair-pulling disorder with medication, a non-invasive method to detect eyelash mites, and the psychological factors affecting contact lens comfort.
7 citations
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June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
November 2024 in “Journal of Investigative Dermatology” Hair evaluation is crucial for early diagnosis and management of ARCI, as hair loss often indicates severity.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
1 citations
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May 2024 in “Skin Appendage Disorders” Early diagnosis with trichoscopy can improve management and quality of life for CCCA patients.
September 2024 in “Meditsinskiy sovet = Medical Council” Excessive vitamin A intake can cause eye damage, but recovery is possible with proper treatment.
29 citations
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September 1942 in “Archives of ophthalmology” Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.
10 citations
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March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
January 2024 in “SAGE Open Medical Case Reports” The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
2 citations
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June 2020 in “Dermatology and therapy” Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.
4 citations
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April 2018 in “Journal of Investigative Dermatology” Hydroxypinacolone retinoate is a potent anti-aging ingredient for skin that is more effective and less irritating than other forms of retinoids.
March 2024 in “Frontiers in medicine” PRP treatment can safely improve short-term vision in acute NAION patients.
August 2018 in “Journal of the American Academy of Dermatology” Reflectance confocal microscopy helped diagnose and manage a woman's hair loss without needing a biopsy.
2 citations
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August 2007 in “Zoonoses and Public Health” Two southern chamois in the Eastern Pyrenees had skin infections caused by a fungus.
19 citations
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April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
10 citations
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January 1995 in “Dermatology” Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.