10 citations
,
September 2023 in “Medicina” Hair loss is common in Jazan, affecting more women, and skin diseases significantly impact mental health.
5 citations
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February 2025 in “Cell Reports” Skin acetyl-CoA synthesis is crucial for overall lipid balance.
3 citations
,
March 2023 in “International journal of molecular sciences” Keratin protein production in cells is controlled by a complex system that changes with cell type, health, and conditions like injury or cancer.
February 2025 in “Animals” Understanding proteins in skin structures like claws and hair is crucial for future research.
March 2019 in “Dermatologic Clinics” The document concludes that there have been significant advances in the treatment and diagnosis of various skin conditions.
62 citations
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January 2015 in “Journal of Dermatological Science” New genetic discoveries may lead to better treatments for alopecia areata.
8 citations
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March 2023 in “British Journal of Dermatology” Next-generation sequencing greatly improves understanding and treatment of genetic hair disorders.
130 citations
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April 2001 in “Journal of Investigative Dermatology” The keratin tail is crucial for skin structure and function.
75 citations
,
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.
71 citations
,
January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
66 citations
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January 2020 in “Acta Dermato Venereologica” New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
49 citations
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January 2013 in “Dermatologic Therapy” Newborns with ichthyosis need specific care based on their skin type.
44 citations
,
September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
40 citations
,
August 2005 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Acitretin moderately improved skin and eye issues but not hair loss or light sensitivity in a 3-year-old with IFAP syndrome.
36 citations
,
September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
36 citations
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January 2000 in “British journal of dermatology/British journal of dermatology, Supplement” A mother and daughter had severe skin, hair, and eye issues linked to IFAP.
29 citations
,
June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
22 citations
,
February 2004 in “Journal of pediatric gastroenterology and nutrition” Children with severe ichthyosis and growth failure rarely have nutritional deficiencies or gastrointestinal issues, but may experience chronic dehydration.
22 citations
,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
21 citations
,
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.
17 citations
,
July 1984 in “British journal of dermatology/British journal of dermatology, Supplement” The four patients have a unique type of ichthyosis affecting hair follicles.
15 citations
,
April 1970 in “PubMed” Netherton's syndrome may have a familial link and doesn't always include atopy.
14 citations
,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
12 citations
,
September 2000 in “Journal of the European Academy of Dermatology and Venereology” Balneophototherapy effectively treats ichthyosis linearis circumflexa but may need ongoing treatment due to short remission.
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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December 2015 in “Journal of Dermatological Case Reports” Narrowband UVB therapy significantly improved a child's rare skin condition.
7 citations
,
January 2013 in “Indian dermatology online journal” A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
6 citations
,
January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.
5 citations
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May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
3 citations
,
September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.