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.
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.
11 citations
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February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
8 citations
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March 2023 in “British Journal of Dermatology” Next-generation sequencing greatly improves understanding and treatment of genetic hair disorders.
6 citations
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October 1998 in “PubMed” Antifungal treatment can improve severe skin infections with cutaneous horns.
3 citations
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August 2017 in “Clinical case reports” A rare skin condition causes red and dark patches on the face and limbs.
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.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
June 2025 in “British Journal of Dermatology” Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
July 2021 in “British Journal of Dermatology” The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
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.
21 citations
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April 2004 in “Australasian Journal of Dermatology” A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
60 citations
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March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
20 citations
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February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
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.
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.