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.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
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.
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.
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.
August 2014 in “Springer eBooks” Certain gene mutations can weaken the skin barrier and, when combined with environmental factors, lead to eczema and severe itching.
1 citations,
October 1996 in “Journal of Cutaneous Medicine and Surgery” Gene therapy shows promise for treating skin disorders and cancer, but faces technical challenges.
46 citations,
May 2012 in “Molecular and Cellular Endocrinology” Human skin produces sex hormones like estrogen and testosterone, influenced by ARO and StAR, which may affect skin elasticity and hair growth.
44 citations,
January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
1 citations,
August 2002 in “Zeitschrift für Hautkrankheiten” Male androgenetic alopecia involves hair follicle miniaturization due to DHT, with potential treatments using inhibitors and blockers.
54 citations,
July 2002 in “Clinical and Experimental Dermatology” DHT, a testosterone byproduct, causes male pattern baldness.
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.
233 citations,
November 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Creating stronger blockers for skin enzymes might lead to better treatment for conditions like acne and excessive hair growth.
216 citations,
May 2003 in “Journal of Investigative Dermatology” Glycerol is essential for skin hydration in mice without sebaceous glands.
81 citations,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
18 citations,
June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” A gene called Gk5 controls lipid production in the skin and affects hair growth.
February 1990 in “Journal of The American Academy of Dermatology” New skin treatments in 1987-1988 showed effectiveness for various conditions, but some had side effects or risks.
31 citations,
January 2003 in “Dermatology” Steroidogenic isoenzymes may help improve treatments for common hair loss.
25 citations,
May 2003 in “Expert Opinion on Therapeutic Patents” Steroid Sulfatase inhibitors show promise in treating hormone-dependent disorders like cancers, hair loss, and acne, with 667COUMATE being a potential candidate for breast cancer treatment trials.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
24 citations,
April 2008 in “Fertility and sterility” Pioglitazone improved insulin sensitivity and altered cortisol metabolism in PCOS patients.
14 citations,
September 2021 in “International journal of molecular sciences” Zinc pyrithione needs targeted delivery to the scalp for effective dandruff treatment.
1 citations,
January 2022 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.
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.
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.
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.
June 2008 in “Springer eBooks” The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.