77 citations
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September 1983 in “Acta Paediatrica” Dexamethasone effectively normalizes elevated steroid levels in girls with premature adrenarche.
85 citations
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August 2015 in “Journal of Applied Genetics” Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
79 citations
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November 2016 in “EMBO Reports” Disruptions in mammary stem cell division can lead to cancer, but targeting these processes might help treat breast cancer.
October 2025 in “Indian Journal of Physiology and Pharmacology” Early diagnosis and treatment of endocrine disorders like HAIR-AN syndrome can improve outcomes in adolescents.
2 citations
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June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
January 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Ascl4 is not necessary for the development of hair, teeth, or mammary glands.
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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September 2021 in “American Journal of Medical Genetics Part A” Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
23 citations
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June 2016 in “Journal of Veterinary Internal Medicine” Cats can have hypersomatotropism without diabetes, suggesting current diagnosis methods may miss cases.
11 citations
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January 2010 in “Journal of oral and maxillofacial surgery”
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.
September 2025 in “Acta Dermato Venereologica” Baricitinib can help improve hair loss and skin color issues in people with Down syndrome.
29 citations
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June 2005 in “Journal of Zoo and Wildlife Medicine” Most hair loss in captive rhesus macaques is likely due to environmental and behavioral factors.
57 citations
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August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
May 2025 in “The Journal of Rheumatology” Middle-aged women with dilated cardiomyopathy should be screened for antiphospholipid syndrome.
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.
10 citations
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January 2018 in “Organogenesis” Porcine acellular dermal matrix treatment helps wounds heal faster and reduces scarring by affecting Jag1 in skin stem cells.
15 citations
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December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
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.
February 2021 in “PubMed” A 2-year-old girl had a hair disorder not shared by her identical twin.
32 citations
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July 2001 in “Journal of the American Academy of Dermatology” SLHA can be hard to diagnose and needs teamwork between specialists.
January 2024 in “The Indian Veterinary Journal” A young goat with skin issues improved with medication and supplements.
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
58 citations
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November 1969 in “British Journal of Dermatology” Netherton's disease causes multiple hair defects.
January 2013 in “The Pan African medical journal” Monilethrix causes short, fragile hair with no specific treatment available.
3 citations
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April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
32 citations
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March 2014 in “PLOS ONE” Mice lacking fibromodulin have disrupted healing patterns, leading to abnormal skin repair and scarring.
30 citations
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June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
January 2022 in “Indian journal of paediatric dermatology” A baby had a rare case of widespread milia, which was treated and is being monitored.
7 citations
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April 2020 in “JIMD Reports” ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.