Early diagnosis and treatment of frontal fibrosing alopecia are crucial to prevent permanent hair loss.
January 2016 in “Journal of The American Academy of Dermatology” The woman has a type of scarring hair loss with red bumps around hair follicles.
May 2014 in “JAMA Dermatology” Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
April 2012 in “Informa Healthcare eBooks” Lichen planopilaris is a rare, chronic condition causing hair loss, mainly in middle-aged women, and early treatment is important to prevent permanent baldness.
February 2009 in “Journal of The American Academy of Dermatology” The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
44 citations
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January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
July 2011 in “Journal of Pediatric and Adolescent Gynecology” A 15-year-old girl has a skin condition causing blisters on her feet, likely inherited from her family.
January 2008 in “The New England Journal of Medicine” Children receive less than half of recommended health care, and routine hormonal testing for female-pattern hair loss is unnecessary without other androgen excess symptoms.
1 citations
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October 2016 in “Molecular biology of the cell” The author felt excited and honored to receive the 2016 Early Career Life Scientist Award.
August 2015 in “Dermatología Argentina” Frontal fibrosing alopecia causes hairline recession and eyebrow loss in postmenopausal women.
12 citations
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January 2016 in “Skin appendage disorders” Repeated botulinum toxin injections for forehead wrinkles may cause hairline recession in some women.
1 citations
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April 2024 in “Archives of disease in childhood” Many children and teens referred to gender services receive hormone treatments, but more research is needed on their long-term care and outcomes.
September 2019 in “Journal of Investigative Dermatology” Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
3 citations
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July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
76 citations
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October 2019 in “Dermatology and Therapy” Atopic dermatitis is common in developing countries, but many patients receive poor care due to inconsistent guidelines and lack of resources.
3 citations
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January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
15 citations
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November 2009 in “Journal of Comparative Pathology” Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
January 2007 in “Bristol Research (University of Bristol)” Epidermolysis bullosa in UK calves is not caused by mutations in keratin genes.
33 citations
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October 2014 in “Veterinary Dermatology” Epidermolysis bullosa is a genetic disease causing fragile skin and blisters in both animals and humans.
26 citations
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September 1999 in “Canadian Journal of Botany” The RHD4 gene is crucial for consistent root hair growth in Arabidopsis thaliana.
2 citations
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August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
21 citations
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September 2013 in “Pediatric Dermatology” Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
16 citations
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January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
13 citations
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July 2012 in “International Journal of Trichology” TTD symptoms vary widely, requiring thorough evaluations.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
7 citations
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April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
1 citations
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July 2024 in “Indian Journal of Case Reports” GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
August 2021 in “Journal of medical science and clinical research” An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
January 2018 in “Journal of Diabetic Association Medical College.” Biotinidase deficiency can cause serious health issues but is treatable with biotin supplements.