22 citations
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September 1993 in “Archives of Dermatology” The child has a scaly rash and fever, but tests show no infection.
6 citations
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February 1985 in “Archives of Dermatology” Systemic corticosteroids can cause unusual skin issues in people with juvenile rheumatoid arthritis.
11 citations
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September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
16 citations
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
49 citations
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January 2013 in “Dermatologic Therapy” Newborns with ichthyosis need specific care based on their skin type.
36 citations
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September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
5 citations
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January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
4 citations
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April 1978 in “PubMed” Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.
April 2017 in “IOSR journal of dental and medical sciences” Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
6 citations
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January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.
3 citations
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March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
53 citations
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September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
7 citations
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July 2014 in “BMJ case reports” A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
21 citations
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September 2013 in “Pediatric Dermatology” Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
11 citations
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January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
9 citations
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July 2016 in “The Journal of Dermatology” An 82-year-old man's white hair regained color after taking etretinate for psoriasis.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
June 2018 in “International Journal of Dermatology” January 2015 in “Springer eBooks” Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
November 2022 in “Journal of Investigative Dermatology” Patients with ichthyosis often experience symptoms similar to psoriasis and atopic dermatitis, suggesting that targeted therapies could improve their condition.
75 citations
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September 1985 in “Archives of dermatology” Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
October 2012 in “Indian Journal of Dermatology, Venereology and Leprology” 17 citations
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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.
11 citations
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January 2010 in “Current problems in dermatology” Ichthyoses are genetic skin disorders that affect the skin's barrier function.
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.