October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
March 2023 in “Journal of Cosmetic Dermatology” A woman's progressive hair loss was correctly diagnosed as a rare condition called fibrosing alopecia in a pattern distribution after initially being mistaken for a more common type.
June 2022 in “Indian Journal of Ophthalmology/Indian journal of ophthalmology” Early and aggressive treatment is crucial for preserving vision in infants with AEC syndrome.
A girl lost her hair due to being given the wrong medication because of a pharmacy's computer error.
318 citations,
January 2022 in “Signal Transduction and Targeted Therapy” The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
152 citations,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
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.
136 citations,
July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
107 citations,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
53 citations,
July 2018 in “Drug design, development and therapy” Janus kinase inhibitors show promise in treating alopecia areata but need better topical formulations.
53 citations,
July 2016 in “Cosmetics” Future hair cosmetics will be safer and more effective.
42 citations,
August 2013 in “International Journal of Women's Health” Female pattern hair loss is caused by multiple factors and while treatments like topical minoxidil, hormone therapy, and low-level light therapy can help, none can fully cure it.
40 citations,
June 2021 in “Clinical, cosmetic and investigational dermatology” JAK inhibitors show promise in effectively treating hair loss from alopecia areata.
36 citations,
May 2005 in “BMC dermatology” DPCP is effective for treating severe alopecia areata, but relapse is common.
18 citations,
June 2019 in “Clinical research in dermatology” Acne can't be cured but can be managed with treatments like benzoyl peroxide and diet changes; it's costly and can lead to scarring and mental health issues.
18 citations,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
16 citations,
January 2017 in “DOAJ (DOAJ: Directory of Open Access Journals)” Low levels of vitamin B12 and ferritin are linked to early hair graying.
12 citations,
February 2023 in “Journal of Personalized Medicine” Type 1 diabetes often occurs with other autoimmune diseases, and personalized treatment based on genetics can improve outcomes.
8 citations,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
8 citations,
March 2020 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,
May 2022 in “PLOS ONE” Certain genes and pathways are linked to the production of finer and denser wool in Hetian sheep.
6 citations,
February 2023 in “Advances in Therapy” Baricitinib, a drug for rheumatoid arthritis, atopic dermatitis, and alopecia areata, is generally safe with low risk of major side effects, even in patients with risk factors. It's also effective in promoting hair regrowth in alopecia areata patients.
6 citations,
January 2019 in “Indian Journal of Dermatology” About 12% of children in Kota, Rajasthan, experience hair loss, mainly due to fungal infections, with early treatment advised to prevent worsening.
6 citations,
September 2012 in “Our Dermatology Online” Retinoids are effective for various skin conditions and hair loss but have serious side effects, so low doses are recommended.
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.
4 citations,
October 2022 in “Genes” Our microbiome may affect the development of the hair loss condition Alopecia Areata, but more research is needed to understand this relationship.
3 citations,
November 2019 in “Journal of the ASEAN Federation of Endocrine Societies” A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
2 citations,
February 2024 in “International journal of molecular sciences” Gut health affects skin diseases, and probiotics might help.
2 citations,
January 2023 in “Dermatology practical & conceptual” COVID-19 diagnosis is linked to new or worsening hair diseases, with stress from the pandemic likely contributing.
1 citations,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.