21 citations
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July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
8 citations
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November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
3 citations
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March 1998 in “PubMed” A woman's skin and hair conditions improved after her cancerous tumor was removed.
2 citations
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January 1989 Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
January 2019 in “Revista Medicina Cutánea Ibero-Latino-Americana” Vitamin D is important for skin health and can help improve various skin conditions.
August 2014 in “Springer eBooks” Certain gene mutations can weaken the skin barrier and, when combined with environmental factors, lead to eczema and severe itching.
Thicker hair resists fungal damage better, and hair color doesn't affect susceptibility.
87 citations
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March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
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.
52 citations
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June 1981 in “International Journal of Dermatology” Oral retinoids are effective for severe skin conditions but require careful use due to side effects.
1 citations
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July 2021 in “IntechOpen eBooks” Environmental factors can cause mutations in skin proteins, leading to skin disorders.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
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.
Newer retinoid drugs are effective for skin conditions but have significant side effects.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
April 2023 in “Medizinische Genetik” New gene discoveries have improved diagnosis and treatment for skin and hair disorders, but more research is needed to fully understand them.
January 1982 in “Journal of The American Academy of Dermatology” Experts discussed treatments for skin conditions in children, emphasizing hydration, cautious medication use, and early intervention for infections.
8 citations
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June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
44 citations
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March 2019 in “Experimental Dermatology” A wide range of proteins are integrated into the skin's protective layer.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
108 citations
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November 1980 in “British Journal of Dermatology” Oral retinoids are effective for various skin conditions but have side effects and should not be used during pregnancy.
7 citations
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June 1994 in “International journal of biochemistry/International Journal of Biochemistry” The document discusses various skin disorders and new therapeutic approaches.
6 citations
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July 2011 in “British Journal of Dermatology” A man with KID syndrome developed a rare cancer in a long-term skin infection.
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.
August 2024 in “Veterinary Dermatology” Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.
January 2021 in “Veterinary research forum” A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
68 citations
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April 2014 in “Journal of Investigative Dermatology” Trichohyalin-like proteins are essential for the development of skin structures like hair, nails, and feathers.
10 citations
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July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
1 citations
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April 2018 in “Journal of Investigative Dermatology” Oleoylethanolamide (OEA) safely boosts fat production in skin cells and may help treat dry skin and reduce inflammation.