January 2024 in “Biomedicines” The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
694 citations,
April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
22 citations,
July 2020 in “iScience” Sox21 is crucial for tooth development and enamel formation by preventing cells from changing into a different type.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
26 citations,
June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
6 citations,
December 2004 in “Anais Brasileiros de Dermatologia” Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
22 citations,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
80 citations,
September 2007 in “Cell Cycle” Stem cells in hair follicles can become various cell types, including neurons.
45 citations,
January 2010 in “Forensic science international” Neonatal hair can help determine drug exposure during pregnancy.
36 citations,
August 2018 in “Dermatologic Clinics” Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.
31 citations,
July 2017 in “Stem cell investigation” Platelet-rich plasma (PRP) is a simple, cost-effective treatment that promotes hair growth and reduces hair loss, with high patient satisfaction.
26 citations,
September 1969 in “The American journal of medicine” Cronkhite-Canada Syndrome often leads to death within 6-18 months.
25 citations,
September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
12 citations,
January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
12 citations,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
11 citations,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
11 citations,
February 2004 in “Clinical and Experimental Ophthalmology” Taking Propecia might lead to the development of cataracts.
9 citations,
January 2017 in “Journal of the Egyptian Women's Dermatologic Society (Print)” Fungal infection was the main cause of hair loss in Egyptian children studied.
7 citations,
November 2007 in “Differentiation” The NF-κB effector p65/RelA activates hair keratin genes, aiding hair formation.
5 citations,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
5 citations,
June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
4 citations,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
3 citations,
March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
2 citations,
August 2017 in “British Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
1 citations,
January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
November 2023 in “British Journal of Dermatology” Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
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.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
April 2023 in “Medizinische Genetik” New gene discoveries have improved diagnosis and treatment for skin and hair disorders, but more research is needed to fully understand them.