August 2019 in “International journal of contemporary pediatrics” A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
Goats can have various genetic skin diseases affecting hair, skin, and thyroid function.
July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
April 2017 in “IOSR journal of dental and medical sciences” Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
January 2016 in “Memorial University Research Repository (Memorial University)” Hereditary hyperplastic gingivitis in silver foxes may be linked to errors in the MAPK signaling pathway, influenced by androgens.
March 2009 in “Prenatal Diagnosis” Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
151 citations
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December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
18 citations
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January 1977 in “Annals of Nutrition and Metabolism” Genetic disorders can disrupt mineral and trace element metabolism, affecting health.
3 citations
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June 2002 in “PubMed” Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
June 2025 in “British Journal of Dermatology” Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
October 2020 in “The American Journal of Gastroenterology” Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
May 2015 in “Journal of Investigative Dermatology” Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
April 2015 in “Experimental Dermatology” Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
10 citations
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November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
10 citations
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March 2019 in “Human Genetics” A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
97 citations
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March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
September 2023 in “Cutis” A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
January 2019 in “Global Dermatology” Genetic hair shaft abnormalities can be seen with microscopes and often affect scalp hair.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
2 citations
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August 1994 in “Archives of dermatology” A 19-month-old boy with a rare hair disorder showed mild improvement with treatment, but his family chose gentle hair care due to limited success.
7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
9 citations
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March 2012 in “Experimental dermatology” Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
12 citations
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January 2013 in “Indian Journal of Dermatology” Monilethrix is a rare genetic hair disorder that's hard to treat.
January 2024 in “Genetics in Medicine Open” A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
2 citations
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November 2002 in “PubMed” Most patients with hair loss sought treatment for cosmetic reasons, were unhappy about their appearance, and had a family history of the condition, suggesting it may be inherited.