35 citations
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August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
6 citations
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March 2020 in “Anais Brasileiros de Dermatologia” Thyroid disease can cause skin and hair changes, treatable with levothyroxine.
August 2025 in “Dermatopathology” Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
53 citations
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August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
51 citations
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January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
40 citations
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September 2004 in “Biomacromolecules” The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
4 citations
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July 2025 in “Frontiers in Pharmacology” Cooling with antioxidants helps protect hair during chemotherapy.
3 citations
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June 2018 in “International Journal of Clinical Pharmacy” Baby born healthy despite mom taking finasteride, but more research needed.
3 citations
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January 2018 in “Skin Appendage Disorders” Nail issues are common in alopecia areata patients.
2 citations
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December 2023 in “Journal of clinical immunology” Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
2 citations
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February 2021 in “PubMed” Koilonychia in alopecia areata can improve with oral corticosteroids.
1 citations
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April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
49 citations
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January 2003 in “Clinical and Experimental Dermatology” The document concludes that post-menopausal frontal fibrosing alopecia is a poorly understood condition that does not respond well to common treatments.
30 citations
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June 1993 in “The Journal of Cell Biology” The oncoprotein causes abnormal hair growth without increasing skin cancer risk.
25 citations
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March 2021 in “Australasian Journal of Dermatology” Ustekinumab successfully treated a man's resistant skin condition when other treatments failed.
16 citations
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July 2019 in “Journal of Cellular Biochemistry” Wnt7a protein is crucial for development and tissue maintenance and plays varying roles in diseases and potential treatments.
15 citations
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February 2015 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Dermoscopy helps accurately diagnose temporal triangular alopecia, avoiding unnecessary treatments.
13 citations
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February 2007 in “British Journal of Dermatology” EF and PXE not closely related.
9 citations
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December 2012 in “Indian Journal of Dermatology Venereology and Leprology” Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
5 citations
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January 2016 in “Open Journal of Regenerative Medicine” Myoblast transplantation shows promise for treating various muscle and heart conditions.
4 citations
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April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
3 citations
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August 2024 in “Dermatology and Therapy” Gene and cell therapies are being developed to treat rare skin conditions like epidermolysis bullosa and ichthyosis.
3 citations
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May 2019 in “BMJ case reports” A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
1 citations
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March 2019 in “Hygiene and Sanitation” Heavy metals can damage skin and hair in mice.
1 citations
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January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
February 2026 in “Journal of Chittagong Medical College Teachers Association” A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
March 2025 in “International Journal of Trichology” Gloriosa superba poisoning can cause sudden hair loss, but hair usually regrows fully.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
September 2024 in “Clinical Case Reports” Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.