August 2023 in “Annales de Dermatologie et de Vénéréologie” Non-scarring hair loss in lupus patients often responds well to treatment and doesn't lead to scarring.
87 citations
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March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
4 citations
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July 2013 in “The Journal of Dermatology” A rare skin condition caused scarring hair loss on the scalp.
Understanding genetics is crucial for treating heart and skin diseases.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.
6 citations
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August 2024 in “BMC Ophthalmology” New genetic variants linked to albinism were found in Pakistani families.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is crucial for seborrheic dermatitis development.
10 citations
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October 2018 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
27 citations
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May 2011 in “Current Opinion in Ophthalmology” New treatments using stem cells and special materials show promise for severe eye surface disease.
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.
December 2024 in “JAAD International”
103 citations
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March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
5 citations
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November 2021 in “Saudi medical journal” The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
301 citations
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May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
33 citations
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August 2013 in “Current Opinion in Ophthalmology” Frontalis suspension surgery using autologous fascia lata is effective for treating unilateral congenital ptosis with poor levator function.
1 citations
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January 2017 in “SAGE Open Medical Case Reports” A woman's hair loss condition got worse after her varicose vein treatment with a specific foam.
144 citations
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May 1990 in “Journal of the American Academy of Dermatology”
2 citations
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July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
2 citations
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July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
February 2021 in “PubMed” A 2-year-old girl had a hair disorder not shared by her identical twin.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
7 citations
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May 1988 in “International Journal of Dermatology” The patient's hair has unique structural differences with alternating bright and dark bands.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
February 2026 in “Cureus” Trichoscopy helps correctly diagnose alopecia areata, not syphilitic alopecia, in patients with recent syphilis.
1 citations
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January 2020 in “Skin Appendage Disorders” Treatment with methotrexate and prednisolone led to complete hair regrowth and no relapse for 2 years.
July 2021 in “British Journal of Dermatology” The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
January 2024 in “Pan African Medical Journal” Non-scarring hair loss is common in lupus patients and can be diagnosed with specific hair and tissue tests.