January 2022 in “Revista Dermatológica Centro Uraga” Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
65 citations
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November 2004 in “Journal of the American Academy of Dermatology” Bimatoprost can cause excessive eyelash growth.
6 citations
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January 2011 in “European Journal of Dermatology” It's important to consider genetic hair disorders when diagnosing hair loss.
December 2023 in “Communications biology” Targeting the HEDGEHOG-GLI1 pathway could help treat keloids.
5 citations
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August 1925 in “Archives of dermatology” An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
17 citations
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September 2018 in “Matrix Biology” Laminin-511 is essential for proper melanocyte movement and development in mice.
2 citations
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August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
5 citations
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April 2014 in “The American Journal of Dermatopathology” Foreign-body granuloma may be a marker for late-stage Lichen Planopilaris and should be considered in diagnosis.
May 2015 in “European Journal of Paediatric Neurology” ECCL should be considered in patients with specific skin and eye lesions.
16 citations
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March 2011 in “Ophthalmic genetics” A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
April 2021 in “BMJ Case Reports” Accurate diagnosis of pseudolymphomatous folliculitis is crucial to avoid mistaking it for more serious conditions.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
April 2025 in “Journal of Diabetes & Metabolic Disorders” Monitoring TGF-β and linc-PINT expression may help identify and treat high-risk heart arrhythmia patients.
6 citations
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March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
January 2025 in “Clinical Dermatology Review” Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
3 citations
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August 2022 in “International Journal of Molecular Sciences” TSC2-/meth cells can cause skin lesions, hair growth, and lung issues, and may be treated with chromatin remodeling agents.
January 2025 in “International journal of research studies in biosciences” Mitochondrial dysfunction and oxidative stress may play a role in Lichen Planopilaris.
December 2025 in “Clinical Case Reports” Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.
May 2023 in “Research Square (Research Square)” Blocking the HEDGEHOG-GLI1 pathway can reduce keloid growth and may be a potential treatment.
3 citations
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August 2024 in “Skin Research and Technology” LC-OCT can help identify lupus-related scarring hair loss by spotting unique features.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
5 citations
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January 2019 in “Skin appendage disorders” The conclusion is that it's important to tell apart alopecia areata from lipedematous alopecia for proper treatment, as alopecia areata can be reversed.
2 citations
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May 2007 in “Pediatrics in Review” Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
26 citations
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January 2009 in “Annals of Dermatology” Two rare bald spots on the back of the scalp were found to be lupus, not alopecia areata.
25 citations
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October 1985 in “Archives of Ophthalmology” The pigment in black eyeliner can spread in the skin and may cause permanent eyelash loss.
1 citations
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April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
December 2020 in “Forum Dermatologicum” Intralesional triamcinolone acetonide can effectively limit the progression of GLPLS.
8 citations
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January 2014 in “Indian Dermatology Online Journal” Trichostasis spinulosa is a common but often unnoticed skin condition involving bundled vellus hairs, especially in people with darker skin or UV exposure.