22 citations,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
21 citations,
March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
7 citations,
February 2019 in “Veterinary medicine and science” An American Bully with a genetic skin condition improved significantly with specific topical treatments.
7 citations,
January 2013 in “Indian dermatology online journal” A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
6 citations,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
5 citations,
September 2021 in “Clinical case reports” GLPLS is a rare skin condition with specific hair loss and skin symptoms.
2 citations,
March 2020 in “JAAD case reports” A leukemia patient showed skin peeling similar to kwashiorkor, a severe protein deficiency.
May 2023 in “Indian journal of dermatology, venereology, and leprology” The document concludes that understanding tissue degeneration is crucial for diagnosing skin lesions.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
July 2021 in “Authorea (Authorea)” Graham-Little Piccardi Lassueur Syndrome is a rare skin condition with specific hair loss and skin symptoms.
375 citations,
June 2013 in “Biochimica et biophysica acta. Molecular cell research” Cornification is how skin cells die to form the protective outer layer of skin, hair, and nails.
179 citations,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
152 citations,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
136 citations,
April 2010 in “British Journal of Dermatology” Acitretin is effective for severe skin conditions but has significant side effects and requires careful monitoring.
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.
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.
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,
May 2016 in “Journal of biological chemistry/The Journal of biological chemistry” sPLA2-IIE is crucial for normal hair follicle structure and skin health.
22 citations,
August 2020 in “Cells” TGM3 is important for skin and hair structure and may help diagnose cancer.
22 citations,
July 2016 in “Cellular and Molecular Life Sciences” Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.
16 citations,
June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
16 citations,
April 2000 in “Journal of Investigative Dermatology” The AVET system effectively delivers genes to human keratinocytes and may help treat skin diseases.
13 citations,
January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
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.
9 citations,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
8 citations,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
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.
4 citations,
January 2016 in “Dermatology practical & conceptual” A man developed a rare skin condition after a hair transplant surgery.
1 citations,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
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.