November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
December 2018 in “International journal of women’s dermatology” FFA in young women is often missed, and no single treatment works best.
July 2022 in “International Journal of Contemporary Pediatrics” Two siblings with a rare type of rickets and hair loss had low vitamin D levels, which is not typical for their condition.
July 2024 in “Journal of Investigative Dermatology” TGF-β signaling is essential for new hair growth after a wound.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
September 2025 in “Digital Commons - RU (Rockefeller University)” FOXC1 is essential for keeping hair follicle stem cells inactive and maintaining their environment for healthy hair growth.
301 citations
,
May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
179 citations
,
December 2004 in “Journal of The American Academy of Dermatology” Some postmenopausal women with frontal fibrosing alopecia stopped losing hair with finasteride treatment, hinting at a possible hormonal cause.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
November 2024 in “NeoReviews” An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
25 citations
,
December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
Basaloid follicular hamartoma is a rare, benign skin growth often misdiagnosed.
14 citations
,
January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
53 citations
,
June 2019 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Frontal fibrosing alopecia mainly affects postmenopausal women and may be linked to thyroid hormones.
57 citations
,
August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
4 citations
,
January 2010 in “Acta dermato-venereologica” Low androgen levels can still cause female pattern hair loss.
26 citations
,
February 1978 in “Journal of Pediatric Surgery” Long-term TPN in children can cause zinc deficiency, leading to health issues.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
March 2012 in “Journal of The American Academy of Dermatology” Hand-foot-mouth disease may cause nail loss in children.
44 citations
,
March 2015 in “PLOS ONE” Fibroblast Growth Factor-9 (FGF-9) can help improve heart function in diabetic mice after a heart attack by reducing inflammation and harmful changes to the heart's structure.
86 citations
,
October 2005 in “Experimental Dermatology” The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
11 citations
,
March 2014 in “Journal of Investigative Dermatology” Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
February 2020 in “Biophysical journal” Zebrafish with mutations similar to human Cantú Syndrome have heart cells with altered channel properties, making them a good model to study the condition.
January 2017 in “프로그램북(구 초록집)” Iron deficiency anemia can cause hair breakage.
68 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” HOXC13 is essential for hair and nail development by regulating Foxn1.
19 citations
,
November 1979 in “Archives of dermatology” Tretinoin may be effective for treating Fox-Fordyce disease.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.