15 citations,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
4 citations,
June 2021 in “Frontiers in Pharmacology” Bone marrow stem cells and their medium help hair regrowth.
44 citations,
January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
5 citations,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
February 2022 in “Endocrine connections” People with reproductive, thyroid disorders, and type 2 diabetes can experience voice changes, but more research is needed to understand this better.
5 citations,
May 2017 in “Journal of dermatological science” The combined treatment effectively managed severe skin issues in Olmsted syndrome.
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 2024 in “JAAD case reports” Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
January 2015 in “Hair transplant forum international” Female pattern hair loss is different from male pattern hair loss and has unclear genetic causes.
194 citations,
November 2006 in “Science” A genetic mutation in the LIPH gene causes hair loss and growth defects.
8 citations,
December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
7 citations,
January 2012 in “International Journal of Trichology” Sudden, unusual hair loss may indicate serious underlying health issues.
3 citations,
June 2020 in “Cutis” Poor nutrition can lead to skin diseases in hospitalized patients and should be quickly identified and treated.
1 citations,
May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
January 2023 in “Open journal of pediatrics” A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
12 citations,
October 1996 in “Dermatologic clinics” Advances in genetics may lead to targeted treatments for hair disorders.
5 citations,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
2 citations,
November 2022 in “Skin research and technology” 5% topical minoxidil improves hair density and quality in monilethrix patients.
1 citations,
February 2017 in “Journal of gynecology and womens health” The document concluded that more research is needed to understand how estrogen affects the enzyme involved in hirsutism development.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
November 2019 in “BMC veterinary research” The hair loss in Belgian Blue crossbred calves was caused by a diet issue, not by disease or infection.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
January 2015 in “Springer eBooks” Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
151 citations,
June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
129 citations,
July 2019 in “Stem Cell Research & Therapy” Epidermal stem cells help heal severe skin wounds and have potential for medical treatments.
124 citations,
January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
74 citations,
July 2008 in “Journal of Dermatological Case Reports” Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
69 citations,
January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
55 citations,
November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.