30 citations
,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
86 citations
,
July 2002 in “Clinical and Experimental Dermatology” FPHL is a common, age-related, genetic hair loss with unclear causes and limited treatment options.
30 citations
,
June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
26 citations
,
November 2011 in “Arquivos Brasileiros De Endocrinologia E Metabologia” Diagnosing PCOS in teenagers should focus on signs of excess male hormones and not rely solely on ovarian ultrasound or irregular periods, and should be reassessed in adulthood.
14 citations
,
January 2012 in “Endocrine development” The conclusion is that a thorough approach is needed to diagnose and manage hyperandrogenism in teenage girls, recognizing its major psychological and health effects.
10 citations
,
July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
111 citations
,
January 2007 in “Seminars in cell & developmental biology” Hair, teeth, and mammary glands develop similarly at first but use different genes later.
73 citations
,
June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
30 citations
,
June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
18 citations
,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
17 citations
,
June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
1 citations
,
April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
2 citations
,
May 2022 in “Stem cell research & therapy” Disrupted stem cell signals in hairpoor mice cause hair loss.
20 citations
,
February 2015 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” A 6-year-old girl was diagnosed with a rare hair disorder and started treatment with topical minoxidil.
9 citations
,
July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
November 2025 in “BMC Genomics” Genetic differences in sheep affect wool type, with fat and immune genes influencing hair traits.
November 2025 in “Journal of Family Medicine and Primary Care” Low-dose minoxidil effectively enhances facial hair with minimal side effects.
27 citations
,
June 2020 in “Genes” Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
November 2025 in “Skin Health and Disease” Autosomal recessive woolly hair is rare and involves tightly coiled hair without other health issues.
May 2025 in “Clinical Medicine Insights Case Reports” Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
27 citations
,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
18 citations
,
January 2015 in “Experimental Dermatology” New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
17 citations
,
February 2015 in “Experimental Dermatology” Keratins are crucial for hair strength, and mutations in certain keratin genes cause hair disorders.
13 citations
,
July 2024 in “Medicina” Lasers can trigger skin reactions, especially in darker skin, and more research is needed to improve treatments.
10 citations
,
August 2013 in “Experimental Dermatology” Hairless protein and putrescine regulate each other, affecting hair growth and skin balance.
9 citations
,
September 2013 in “Journal of histochemistry and cytochemistry/The journal of histochemistry and cytochemistry” Matriptase is highly active in hair follicles and sebaceous glands, especially during hair growth phases.
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.