6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
4 citations
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September 2011 in “Journal of the American Academy of Dermatology” A man developed a skin cancer called folliculotropic mycosis fungoides after a kidney transplant.
August 2020 in “Ugeskrift for Læger” A man with severe hair loss regrew all his hair using tofacitinib and stayed healthy for a year.
June 2017 in “Journal of the American Academy of Dermatology” Tofacitinib is effective and safe for treating severe alopecia areata and related conditions.
119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
May 2025 in “The Journal of Rheumatology” Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
Combining anti-androgenic, anti-inflammatory, and anti-fibrotic treatments may improve hair loss outcomes, but more testing is needed.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
April 2012 in “Journal of the American Academy of Dermatology” Clofazimine may be effective for treating ashy dermatosis.
73 citations
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June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.