A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
86 citations
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January 1990 in “The Journal of Pediatrics” Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.
3 citations
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January 1988 in “PubMed” High prolactin levels can cause skin and hair symptoms similar to those caused by hormone imbalances.
175 citations
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December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
1 citations
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January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased PHGDH expression causes early melanin buildup in hair follicles.
15 citations
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November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
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.
15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
372 citations
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December 2004 in “Nature Genetics”
July 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
13 citations
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June 2020 in “International Journal of Molecular Sciences” HNG helps hair grow by keeping hair in the growth phase longer.
9 citations
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June 2016 in “The Cerebellum” 15 citations
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May 2010 in “Pediatrics in Review” Delayed puberty often runs in families, can affect growth, and may need hormone treatment.
12 citations
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April 2019 in “Scientific Reports” A protein called HMGB1 helps hair grow by affecting prostaglandin metabolism.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
October 2024 in “World Journal of Psychiatry” Stress worsens hair loss in androgenetic alopecia.
1 citations
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April 2016 in “Journal of The American Academy of Dermatology” The study concludes that Loose Anagen Hair Syndrome is a benign condition that usually improves with age but can be hard to diagnose and stressful for the family.
Children with alopecia areata have lower BDNF levels, linked to worse symptoms and quality of life.
July 2020 in “Nepalese journal of ophthalmology” A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
248 citations
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December 2011 in “Journal of Neuroscience” Neurosteroids are crucial for stress response, and targeting specific receptors may help treat certain disorders.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
February 2010 in “Journal of the American Academy of Dermatology” Umbilical cord blood transplantation improved the boy's symptoms despite complications.
2 citations
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January 2015 in “BioMed Research International” Growth factor treatments are increasingly used in medicine but require more research to fully understand their mechanisms.
December 2024 in “Pediatrics in Review” Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
181 citations
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
50 citations
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July 1980 in “Archives of Dermatology” Hidden sweat gland tumors might cause hair loss.
January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
October 2025 in “Medicine” A potential link exists between unexplained hormone deficiency, hair loss, and testicular tumors, suggesting thorough screening is needed.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
112 citations
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January 2013 in “Experimental dermatology” Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.