74 citations,
July 2008 in “Journal of Dermatological Case Reports” Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
80 citations,
March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
22 citations,
July 2016 in “Cellular and Molecular Life Sciences” Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.
10 citations,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
15 citations,
January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
4 citations,
December 2020 in “Dermatologic Therapy” Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
31 citations,
January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
1 citations,
March 2004 in “Journal of the American Academy of Dermatology” Certain genes are linked to the risk of developing Alopecia Areata.
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.
October 2022 in “Medičnì perspektivi” Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
89 citations,
October 1996 in “Dermatologic Clinics” Alopecia areata is likely caused by a combination of genetic factors and immune system dysfunction, and may represent different diseases with various causes.
20 citations,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
15 citations,
December 2013 Men with more vanadium in their blood and who drink less soy milk are more likely to have hair loss.
15 citations,
July 2002 in “Clinical and Experimental Dermatology” Hair microscopy is useful for diagnosing certain hair loss conditions but has limitations and must be interpreted carefully.
14 citations,
January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
3 citations,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.
research Acne
2 citations,
May 2011 in “Harper's Textbook of Pediatric Dermatology” Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.
1 citations,
January 2018 in “Acta dermato-venereologica” A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
April 2020 in “International journal of research in dermatology” An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
November 1966 in “British Journal of Dermatology” The meeting discussed various skin conditions, treatments, and unusual cases, highlighting the effectiveness of tetracycline in treating rosacea.
18 citations,
June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” A gene called Gk5 controls lipid production in the skin and affects hair growth.
17 citations,
July 1994 in “Journal of Dermatological Science” The cause of alopecia areata is likely a mix of genetics, immune system issues, and environmental factors, with more research needed to understand it fully.
July 2011 in “British Journal of Dermatology” Dermatologists give better information on pathology forms, hypersensitivity vasculitis is a common skin issue, misdiagnoses can occur, and various skin conditions are linked to loss of elastin or genetic factors.
49 citations,
January 2003 in “American Journal of Clinical Dermatology” Effective management of children's hair loss involves accurate diagnosis, various treatments, and supportive care.
18 citations,
November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
43 citations,
December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
7 citations,
August 2017 in “PloS one” Key genes linked to hair growth and cancer were identified in hairless mice.