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.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
7 citations
,
August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
126 citations
,
April 2006 in “International Journal of Dermatology” The conclusion is that FFA and LPP have similar scalp biopsy features, making them hard to distinguish histologically, and FFA may be a specific kind of scarring hair loss.
130 citations
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April 2001 in “Journal of Investigative Dermatology” The keratin tail is crucial for skin structure and function.
September 2022 in “Journal of the American Academy of Dermatology” Patients with lichen planopilaris/frontal fibrosing alopecia have a higher rate of vitamin D deficiency than the general US population.
7 citations
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July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
May 2005 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Truncated LTBP-1 disrupts TGF-beta signaling, affecting hair growth.
27 citations
,
August 2010 in “Clinics in Dermatology” Hepatitis C virus can cause skin diseases and dermatologists play a crucial role in identifying these conditions.
1 citations
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January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
6 citations
,
January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” New topical treatment using spherical nucleic acids shows promise in reducing psoriasis inflammation.
81 citations
,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
October 2007 in “Revue du Rhumatisme”
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
23 citations
,
August 1983 in “PubMed” Clq deficiency is linked to systemic lupus erythematosus symptoms.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
64 citations
,
August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
6 citations
,
January 2016 in “Skin appendage disorders” A man with rare Lichen Planopilaris lost body hair, not scalp hair, and treatment stopped itching but didn't regrow hair.
April 2008 in “Progrès en Urologie”
5 citations
,
September 2010 in “Cancer Prevention Research” The research suggests new treatments for skin cancer could target specific cell growth pathways.
September 2008 in “Pediatric Rheumatology” Two children with lysinuric protein intolerance showed symptoms similar to lupus.
4 citations
,
August 2022 in “Cells” lncRNA2919 slows down rabbit hair growth by stopping cell growth and causing cell death.
75 citations
,
September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.
10 citations
,
June 2019 in “Transplant infectious disease” The virus linked to a rare disease was found in a patient's blood and urine before skin symptoms appeared.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
1 citations
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January 2021 in “Journal of the American Academy of Dermatology” Careful histologic examination is crucial to differentiate types of bullous lesions in cutaneous lupus erythematosus.
79 citations
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September 2018 in “Dermatologic therapy” Oral tofacitinib can significantly improve recalcitrant lichen planopilaris.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.