21 citations
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July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
61 citations
,
April 1980 in “Journal of the American Academy of Dermatology” A new syndrome may link skin, growth, mental, and hair issues.
136 citations
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April 2010 in “British Journal of Dermatology” Acitretin is effective for severe skin conditions but has significant side effects and requires careful monitoring.
79 citations
,
February 2009 in “Human Genetics”
6 citations
,
September 2012 in “Our Dermatology Online” Retinoids are effective for various skin conditions and hair loss but have serious side effects, so low doses are recommended.
74 citations
,
July 2008 in “Journal of Dermatological Case Reports” Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
32 citations
,
August 2003 in “Journal of the European Academy of Dermatology and Venereology” cGVHD often severely affects the skin, causing rapid aging and other issues.
May 2025 in “International Journal of Trichology” Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
122 citations
,
January 2006 in “Molecular & Cellular Proteomics” Human hair contains many proteins, with some being highly abundant and modified.
97 citations
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March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
71 citations
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June 2005 in “Journal of Investigative Dermatology” PAD enzymes play a key role in hair growth and structure.
62 citations
,
October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
57 citations
,
January 2020 in “International Journal of Molecular Sciences” PADs are crucial for healthy skin and hair, and their imbalance can cause skin and hair disorders.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
51 citations
,
August 2013 in “The Journal of experimental medicine/The journal of experimental medicine” Loss of a specific protein in skin cells causes symptoms similar to psoriasis.
51 citations
,
December 2006 in “Mammalian Genome”
48 citations
,
January 2015 in “Indian Journal of Dermatology, Venereology and Leprology” Vitamin D is important for skin health and can help treat psoriasis, atopic dermatitis, and vitiligo.
43 citations
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October 2006 in “Journal of Cell Science” Keratin 10 end domains may increase skin cancer risk by reducing cell death.
32 citations
,
November 1998 in “Journal of Biological Chemistry” Mouse and human keratin 16 can both form filaments, with differences likely due to the tail domain, not the helical domain.
27 citations
,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
26 citations
,
July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
26 citations
,
May 2016 in “Journal of biological chemistry/The Journal of biological chemistry” sPLA2-IIE is crucial for normal hair follicle structure and skin health.
25 citations
,
August 2017 in “Frontiers in Zoology” Marine mammals lost many α-keratin genes, aiding their adaptation to aquatic life by becoming hairless.
22 citations
,
August 2020 in “Cells” TGM3 is important for skin and hair structure and may help diagnose cancer.
14 citations
,
July 1994 in “Journal of Dermatological Science” Keratin mutations may cause scarring alopecia by damaging hair structure.
12 citations
,
May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Laminin 332 is essential for normal skin cell behavior and structure.
11 citations
,
March 2004 in “Journal of Comparative Pathology” Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
10 citations
,
September 2023 in “Metabolites” Iron is crucial for skin health, with specific proteins recycling it to support skin functions and prevent its release.
4 citations
,
January 2016 in “Dermatology practical & conceptual” A man developed a rare skin condition after a hair transplant surgery.
1 citations
,
June 2016 in “FEBS open bio” Fish oil increased cell growth and macrophages in the skin but didn't affect COX-2 expression.