July 2024 in “International Journal of Dermatology Venereology and Leprosy Sciences” Trichoscopy is a useful, painless tool for diagnosing and monitoring children's hair and scalp issues.
372 citations
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December 2004 in “Nature Genetics”
January 2025 in “Clinical Dermatology Review” Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
59 citations
,
September 2021 in “Journal of Allergy and Clinical Immunology” Netherton syndrome has two subtypes with shared immune traits but different allergic and immune responses, suggesting targeted treatments.
33 citations
,
May 2001 in “Annals of pharmacotherapy/The annals of pharmacotherapy” Topical tacrolimus is safe and effective for skin conditions, but oral tacrolimus has serious side effects.
12 citations
,
October 1996 in “Dermatologic clinics” Advances in genetics may lead to targeted treatments for hair disorders.
1 citations
,
June 2025 in “Journal of Allergy and Clinical Immunology Global” A young boy with Netherton syndrome improved significantly using IVIG, dupilumab, and dietary changes.
January 2024 in “JAAD case reports” Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
74 citations
,
July 2008 in “Journal of Dermatological Case Reports” Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
26 citations
,
July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
25 citations
,
March 2021 in “Australasian Journal of Dermatology” Ustekinumab successfully treated a man's resistant skin condition when other treatments failed.
2 citations
,
January 1981 72 citations
,
March 2023 in “Biomolecules” Dupilumab effectively treats various inflammatory skin diseases beyond its initial use for atopic dermatitis.
81 citations
,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
February 2024 in “Bőrgyógyászati és venerológiai szemle” Psychological issues with skin problems worsen patients' lives and treatment.
40 citations
,
November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
7 citations
,
October 2024 in “Cells” Autophagy is essential for proper skin cell development and function.
130 citations
,
April 2001 in “Journal of Investigative Dermatology” The keratin tail is crucial for skin structure and function.
99 citations
,
October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
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
,
January 2020 in “Acta Dermato Venereologica” New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
49 citations
,
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
,
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.