11 citations,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
16 citations,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
7 citations,
July 2014 in “BMJ case reports” A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
1 citations,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
147 citations,
January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
10 citations,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
1 citations,
June 2017 in “Veterinary dermatology” A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.
4 citations,
December 2013 in “British Journal of Dermatology” ESR2 gene linked to female-pattern hair loss.
1 citations,
May 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” The symposium highlighted the importance of understanding disease mechanisms for targeted dermatology treatments.
138 citations,
November 2015 in “Journal of Pharmacology and Experimental Therapeutics” Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
92 citations,
June 2005 in “Journal of Investigative Dermatology” All-trans retinoic acid causes hair loss by increasing TGF-β2 in hair follicle cells.
53 citations,
June 2012 in “Annales d'Endocrinologie” The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
42 citations,
October 2011 in “Seminars in Cell & Developmental Biology” Eph/ephrin signaling is important for skin cell behavior and could be targeted to treat skin diseases.
28 citations,
January 2018 in “Biochemical Society Transactions” Certain fats in the skin help control inflammation and health, and changing these fats through diet or supplements might treat skin inflammation.
26 citations,
March 2014 in “Journal of cutaneous medicine and surgery” Topical vitamin D is useful for some skin conditions but not effective for others, and more research is needed.
21 citations,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
17 citations,
February 2015 in “Cell Death and Disease” Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
16 citations,
November 2019 in “Nanomedicine” Thermoresponsive nanogels show promise for delivering medicine through the skin but need more safety testing and regulatory approval before clinical use.
3 citations,
September 2005 in “Experimental dermatology” The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
January 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” A specific enzyme is essential for proper hair follicle stem cell development and healthy skin.
4 citations,
May 2018 in “Türk pediatri arşivi : İstanbul çocuk kliniği dergisi” Oral retinoic acid effectively treated collodion baby, with hair loss as the main side effect.
January 2015 in “Springer eBooks” Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
1 citations,
January 2017 in “Springer eBooks” 21 citations,
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.
7 citations,
June 2000 in “Journal of the American Academy of Dermatology” Foam corticosteroid covers as well as traditional forms.
January 2022 in “Indian dermatology online journal” A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
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.
24 citations,
December 2018 in “Inflammation and Regeneration” Phospholipase A2 enzymes play key roles in skin health and disease.
23 citations,
February 2015 in “The American journal of pathology” Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
22 citations,
August 2020 in “Cells” TGM3 is important for skin and hair structure and may help diagnose cancer.