April 2021 in “Authorea (Authorea)” A 20-year-old woman had stable Progressive Hemifacial Atrophy and Vitiligo after treatment, suggesting a possible link between the conditions.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
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.
412 citations
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January 1998 in “Science” A mutation in the human hairless gene causes alopecia universalis.
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
January 2015 in “Journal of Neuromuscular Diseases” Danon disease can be hard to diagnose due to non-specific symptoms.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.
1 citations
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September 2017 in “BMJ” The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
5 citations
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February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
17 citations
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June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
28 citations
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January 1985 in “Journal of the American Academy of Dermatology” A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
August 2018 in “Pediatric Dermatology” A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
1 citations
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April 2023 in “Frontiers in Genetics” The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
32 citations
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April 1994 in “Journal of the American Academy of Dermatology” High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
100 citations
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November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
1 citations
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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.
November 2024 in “Medicina” Recognizing scalp symptoms in PRP is crucial for proper diagnosis and treatment.
9 citations
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February 2002 in “PubMed” A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
33 citations
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February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
30 citations
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August 1984 in “Journal of the American Academy of Dermatology” Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
October 2023 in “European Journal of Dermatology” Combining hair transplantation with PRP is more effective for treating hair loss than hair transplantation alone.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
August 2018 in “Journal of The American Academy of Dermatology” Older men's scalp damage increases with age and sun exposure, a baby girl in the Philippines has Schimmelpenning syndrome, and thyroid screening is advised for children with hair loss and certain risk factors.
11 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Adolescents and young adults with Prader-Willi syndrome show a range of sexual interests and behaviors.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
October 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
22 citations
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.