29 citations
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July 1996 in “Acta Paediatrica” Biotin should be added to Japanese amino acid formula to prevent deficiency.
83 citations
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May 2011 in “European Journal of Dermatology” Corneodesmosin is crucial for skin and hair health, and its dysfunction can cause skin and hair disorders.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
50 citations
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November 2010 in “Otolaryngologic Clinics of North America” Recognizing oral symptoms can help diagnose and treat blood and nutritional diseases early.
2 citations
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October 2023 in “Philosophical transactions - Royal Society. Biological sciences” Enzymes that change arginine to citrulline are important for skin barrier and hair formation, and their malfunction can lead to skin conditions and hair disorders.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
April 2023 in “Tikrit Journal of Pharmaceutical Sciences” Deferasirox effectively reduces iron overload in ß-thalassemia patients but may cause some manageable side effects.
December 2024 in “Nutrients” Skin, hair, and nail changes can help detect eating disorders early.
41 citations
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January 1992 in “Journal of medical genetics” The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
November 2024 in “Journal of Investigative Dermatology” Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
33 citations
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August 2013 in “British Journal of Dermatology” Lack of small, fine hair on the front hairline is a key sign of frontal fibrosing alopecia.
7 citations
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January 2016 in “Hair therapy & transplantation” People with early graying hair often have lower levels of iron, ferritin, and calcium.
194 citations
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November 2006 in “Science” A genetic mutation in the LIPH gene causes hair loss and growth defects.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
2 citations
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May 2007 in “Pediatrics in Review” Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
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.
April 2018 in “Journal of Investigative Dermatology” Desmoglein 3 organization in cell connections changes without calcium, affecting cell adhesion.
29 citations
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September 1942 in “Archives of ophthalmology” Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.
9 citations
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January 2023 in “International Journal of Biological Sciences” CTHRC1 is essential for healing and preventing heart rupture after a heart attack.
12 citations
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October 1996 in “Dermatologic clinics” Advances in genetics may lead to targeted treatments for hair disorders.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
2 citations
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January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
April 2025 in “Revista Digital de Postgrado” Severe malnutrition in young children causes various skin and nail issues, mainly pigmentation changes and extreme thinness.
January 2016 in “SpringerBriefs in bioengineering” Genetic defects and UV radiation cause skin damage and aging.
7 citations
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May 2010 in “Journal of Cutaneous Pathology” A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
December 2020 in “American Journal of Transplantation” Early recognition and treatment of VATS in transplant patients improve outcomes.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
October 2021 in “European Journal of Dermatology” CAL-PDT is safer and more effective for treating actinic keratosis on the scalp.