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May 2005 in “The American journal of dermatopathology/American journal of dermatopathology” The hair defect is due to abnormal inner root sheath keratinization.
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
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January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
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December 2008 in “Pediatric neurology” The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
December 2025 in “IP Indian Journal of Clinical and Experimental Dermatology” 10 citations
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October 2018 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
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July 1984 in “British journal of dermatology/British journal of dermatology, Supplement” The four patients have a unique type of ichthyosis affecting hair follicles.
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June 1970 in “Journal of Investigative Dermatology” 71 citations
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May 1996 in “Journal of Investigative Dermatology” Ornithine decarboxylase is crucial for hair growth regulation in mice.
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December 1982 in “Developmental Medicine & Child Neurology” Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
7 citations
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August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
3 citations
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January 2018 in “Skin Appendage Disorders” Nail issues are common in alopecia areata patients.
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January 2005 in “Clinics in dermatology” Recent progress has been made in understanding inherited hair and nail disorders.
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January 2010 in “Journal of oral and maxillofacial surgery”
October 2023 in “CRC Press eBooks” Children with darker skin can have various hair and nail issues.
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January 2009 in “Advances in experimental medicine and biology” FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
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September 2002 in “Journal of Biological Chemistry” Abnormal keratin expression in mice causes severe oral issues, affecting feeding.
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August 2014 in “Biochemical and Biophysical Research Communications” ODC overexpression in hair cells increases tumor growth by reducing Notch signaling.
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October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
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October 2012 in “Australian veterinary journal” Two Australian Poll Hereford calves had severe anaemia, abnormal red blood cells, and skin issues.
13 citations
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August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
3 citations
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March 2017 in “Pediatric Dermatology” FOXN1 duplication can cause excessive hair growth.
January 2018 in “Elsevier eBooks” Different nail disorders are treated by targeting their specific causes and using appropriate medications or protective measures.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The HoxC gene cluster and its enhancers are essential for developing hair and nails in mammals.
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December 2008 in “Pediatric Dermatology” Trichoscopy can diagnose Netherton syndrome without pulling hairs.
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January 2018 in “Jaypee's international journal of clinical pediatric dentistry” Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
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January 1997 in “Dermatology” The patient with EEC syndrome had scarring alopecia due to deep folliculitis, possibly linked to abnormal hair structure.
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December 2003 in “Experimental Dermatology” Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.