16 citations
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March 2011 in “Ophthalmic genetics” A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
September 2023 in “Cureus” Nails can reveal important health information about skin and body conditions.
Spiny keratoderma is a rare skin condition with small spines on palms and soles, possibly linked to abnormal hair formation.
4 citations
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August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
7 citations
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January 2017 in “Neuromuscular Disorders” A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
39 citations
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February 2011 in “American Journal of Dermatopathology” Onychomatricoma is a unique nail tumor that mimics the entire nail unit and is not related to other hair-related tumors.
May 2025 in “Indian Dermatology Online Journal” Trichoscopy is crucial for diagnosing rare genetic hair disorders.
January 2007 in “Más dermatología” Gentle hair care and some medications can help manage hair shaft disorders, but no specific treatment exists for congenital issues.
January 2023 in “Brazilian Journals Editora eBooks” 44 citations
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January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
May 2025 in “International Journal of Trichology” Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
3 citations
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February 2011 in “Journal of Biomedical Research/Journal of biomedical research” A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
Whiskers can form without sensory nerves or Foxd1, thanks to Meis2 in mesenchymal cells.
87 citations
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August 1974 in “Journal of Investigative Dermatology” December 2008 in “The Internet journal of surgery” A 16-year-old girl with a hair-eating disorder needed surgery to remove a hairball from her stomach and small bowel.
18 citations
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August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
January 2011 in “InTech eBooks” Pesticide exposure may increase the risk of hypospadias in males.
December 2017 in “Journal of the Hellenic Veterinary Medical Society” Canine acral lick dermatitis is a complex skin issue in dogs caused by excessive licking, often needing various treatments.
5 citations
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March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
5 citations
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January 2020 in “Wiadomości lekarskie (Warsaw Poland)” Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
11 citations
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October 2002 in “Genetics” A new mouse hair mutation, called hague, is semidominant and unstable, but the exact cause is unknown.
January 2023 in “Pesquisa Veterinária Brasileira” A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
Improved nutrition quickly healed the patient's skin lesions.
Onychomatricoma is a unique nail tumor, not related to other hair-related tumors.
103 citations
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October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
January 2013 in “The Pan African medical journal” Monilethrix causes short, fragile hair with no specific treatment available.
January 1962 in “Archives of Dermatology” A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
March 2010 in “Hair transplant forum international” Forehead taping can sometimes lead to unexpected problems.