2 citations
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December 2022 in “The Journal of Dermatology” Patients with hidradenitis suppurativa have higher levels of cell-free DNA in their blood.
July 2012 in “Hair transplant forum international” Hair transplant improved self-perception in hair loss patients, but some still remained overly focused on their hair appearance.
August 2020 in “International Journal of Research in Dermatology” Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
10 citations
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November 2019 in “Journal of the European Academy of Dermatology and Venereology” The RAS pathway affects hair growth differently in CFCS and CS.
53 citations
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October 1984 in “Endocrine reviews” Excessive hair growth in women often has no known cause and is not linked to race or other hormonal symptoms.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
43 citations
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August 2010 in “Expert Opinion on Investigational Drugs” Inhibitors of 11β-HSD1 show potential for treating type 2 diabetes but require more testing for safety and effectiveness.
January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
12 citations
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January 2001 in “Der Hautarzt” Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
8 citations
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August 2015 in “Experimental Dermatology” Hidradenitis suppurativa may involve gut and oral bacteria, suggesting targeted treatments could help.
26 citations
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September 1969 in “The American journal of medicine” Cronkhite-Canada Syndrome often leads to death within 6-18 months.
3 citations
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March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
4 citations
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July 2019 in “Clinical and experimental dermatology” Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
11 citations
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November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
1 citations
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May 2013 in “Journal of the Egyptian Women's Dermatologic Society (Print)” Women with idiopathic hirsutism and PCOS have higher RBP4 levels, and PCOS is linked to greater insulin resistance; weight management may help both conditions.
January 2023 in “Indian dermatology online journal” A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
27 citations
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June 1989 in “Journal of Medical Genetics” Hairy elbows may be linked to short stature, but the exact cause is unclear.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
7 citations
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January 2009 in “Immunological investigations” A 3-year-old boy lost all his hair due to a rare reaction to phenobarbital, but it grew back after steroid treatment.
November 2013 in “International Journal of Medical and Health Sciences” Doctors often miss Hair Tourniquet Syndrome, which can lead to serious damage if not treated quickly.
1 citations
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October 2022 in “Rheumatology” RHUPUS should be considered in children with deforming arthritis.
56 citations
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April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
178 citations
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October 2001 in “Genes & Development” The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
April 2008 in “Obstetrics, gynaecology and reproductive medicine” Hirsutism is often caused by high male hormone levels and can be treated with lifestyle changes and medications.
16 citations
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March 2005 in “Journal of The American Academy of Dermatology” A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
August 2013 in “Gastroenterology” A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin cells and certain hair follicle areas produce hemoglobin, which may help protect against oxidative stress like UV damage.
1 citations
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January 2020 in “Skin appendage disorders” A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.