September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
February 2010 in “Journal of The American Academy of Dermatology” Surgery on a baby with a skin disorder improved eyelid position and eye health.
June 2018 in “International Journal of Dermatology”
1 citations
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January 2019 in “International Journal of Medical Reviews and Case Reports” Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
September 2019 in “Journal of Investigative Dermatology” Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
2 citations
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January 2022 in “International journal of trichology” Eruptive vellus hair cysts are often missed in diagnoses.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
January 2007 in “Bristol Research (University of Bristol)” Epidermolysis bullosa in UK calves is not caused by mutations in keratin genes.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
18 citations
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January 1992 in “Dermatology” A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
61 citations
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April 1980 in “Journal of the American Academy of Dermatology” A new syndrome may link skin, growth, mental, and hair issues.
10 citations
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January 2018 in “International journal of trichology” Eruptive vellus hair cysts are rare and often misdiagnosed, requiring biopsy for accurate diagnosis.
13 citations
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September 1997 in “Archives of Dermatology” The boy likely has a fungal infection causing hair loss.
2 citations
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September 2004 in “Experimental Dermatology” Keratinocyte adhesion problems can cause skin and hair disorders.
3 citations
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July 2004 in “SKINmed/Skinmed” A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
5 citations
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September 2021 in “Journal of Molecular Histology” LHX2, with other markers, can identify hair placodes in rats.
8 citations
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January 2019 in “JAAD Case Reports” EPDS can cause recurring scalp sores and hair loss if not treated.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
13 citations
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February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
1 citations
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August 2011 in “Dermatology Reports” Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
17 citations
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November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
January 2023 in “Pesquisa Veterinária Brasileira” A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
8 citations
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January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.