September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
December 2022 in “Curēus” Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
Hairless mammals evolved quickly in both gene and non-gene areas related to skin and hair.
June 2019 in “Pediatric Dermatology” Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.
September 2016 in “Más dermatología” New factors in female hair loss include genetics, hormones, stress, and inflammation; future treatments should also focus on these areas and consider the patient's emotional well-being.
September 2013 in “Molecular Biology” The document suggests that activating autophagy might help with regeneration by removing old and damaged cells.
February 2010 in “Journal of the American Academy of Dermatology” Umbilical cord blood transplantation improved the boy's symptoms despite complications.
April 2018 in “Journal of Investigative Dermatology” Hair pattern in androgenetic alopecia overlaps with scalp and bone demarcations, with distinct gene profiles affecting susceptibility.
1 citations
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January 2013 Glucosylceramides are essential for healthy skin and proper wound healing.
23 citations
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December 2008 in “Current medicinal chemistry” Stimulating sensory neurons can increase IGF-I production, which may help treat various diseases and improve tissue health.
18 citations
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November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
16 citations
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January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
12 citations
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July 2015 in “Tissue Antigens” The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
11 citations
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January 2015 in “Journal of cellular physiology” HR protein causes abnormal hair cycles by increasing Tgf-β2 and reducing miR-31.
6 citations
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October 2020 in “Endocrine journal” A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
5 citations
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January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
5 citations
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September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
4 citations
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January 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
4 citations
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January 2014 in “International Journal of Trichology” A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
3 citations
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October 2021 in “Clinical, Cosmetic and Investigational Dermatology” Scalp melanoma, a deadly skin cancer, is often found late due to its hard-to-see location, especially in older men. Early detection, possible treatments, and the role of hairdressers in spotting it early are discussed. More research is needed to improve detection and treatment.
2 citations
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January 2021 in “American Journal of Case Reports” A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
2 citations
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October 2001 in “Mycoses” A cat had a rare fungal infection caused by Microsporum gypseum.
1 citations
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January 2025 in “Pediatria i Medycyna Rodzinna” Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.
1 citations
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May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
1 citations
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June 2022 in “Experimental dermatology” The SHJH hr mice with a mutated Hr gene show signs of faster skin aging due to poor antioxidative protection.
1 citations
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January 2020 in “Recent Research in Genetics and Genomics/Recent Research in Genetics and Genomics ” High doses of Lepidium sativum seed extract are toxic and should be used with caution.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.