15 citations,
May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
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.
87 citations,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
44 citations,
April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
January 1982 in “Journal of The American Academy of Dermatology” Experts discussed treatments for skin conditions in children, emphasizing hydration, cautious medication use, and early intervention for infections.
18 citations,
August 2015 in “Biochemical and Biophysical Research Communications” XEDAR triggers a specific signaling pathway in cells.
7 citations,
March 2012 in “European Journal of Pediatrics” A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
37 citations,
June 2002 in “The Laryngoscope” Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
451 citations,
March 2005 in “Endocrine Reviews” The enzyme steroid sulfatase is linked to breast cancer and other conditions, and inhibitors are being developed for treatment.
79 citations,
June 1991 in “Journal of Medical Genetics” X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
35 citations,
April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
22 citations,
January 2008 in “Physiological Research” Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
109 citations,
October 2007 in “American Journal of Human Genetics” Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
5 citations,
March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
17 citations,
January 2011 in “Indian journal of dermatology, venereology, and leprology” A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
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.
31 citations,
January 2010 in “GenomeBiology.com (London. Print)” The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
1 citations,
January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
1 citations,
January 2013 in “Indian journal of dermatology, venereology, and leprology” A girl inherited excessive body hair from her mother and grandmother.
4 citations,
May 2021 in “Journal of The American Academy of Dermatology” There's no significant genetic link between male pattern baldness and COVID-19.
174 citations,
July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
38 citations,
May 1971 in “Clinical genetics” A specific metabolite, not a receptor protein, triggers the production of certain kidney enzymes, but this process is disrupted in mice with a mutation causing testicular feminization.
February 2010 in “Journal of The American Academy of Dermatology” A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
9 citations,
September 2015 in “Reproductive Biomedicine Online” Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.
12 citations,
March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
10 citations,
November 2010 in “Journal of Dermatology” Longer CAG repeats in gene linked to more severe hair loss in females.
13 citations,
September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.