41 citations
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December 2008 in “Pediatric Dermatology” Trichoscopy can diagnose Netherton syndrome without pulling hairs.
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.
15 citations
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April 1970 in “PubMed” Netherton's syndrome may have a familial link and doesn't always include atopy.
9 citations
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April 1985 in “Archives of Dermatology” Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
4 citations
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March 1999 in “International Journal of STD & AIDS” Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.
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.
3 citations
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June 2002 in “PubMed” Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
2 citations
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April 1970 in “Archives of Dermatology” Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
1 citations
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November 2003 in “SKINmed Dermatology for the Clinician” A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.
December 2025 in “Clinical Case Reports” Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.
November 2025 in “Вопросы современной педиатрии” Treating Netherton syndrome with growth hormone and dupilumab improves growth safely.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
May 2025 in “International Journal of Trichology” Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
IVIG and dupilumab effectively improved symptoms in a child with Netherton syndrome.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
July 2024 in “Journal of Investigative Dermatology” DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
July 2012 in “American Journal of Clinical Pathology” Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
January 2006 in “Dianzi xianwei xuebao” Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
11 citations
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January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
36 citations
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July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
November 2021 in “CRC Press eBooks” Hair shaft disorders cause fragile, brittle, and abnormal-looking hair.
April 2025 in “Indian Journal of Paediatric Dermatology” Trichorrhexis invaginata can occur with tinea capitis, though it's rare.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
33 citations
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January 2007 in “Pediatric dermatology” Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
2 citations
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January 2018 in “International Journal of Trichology” Two sisters had a rare hair condition without other usual symptoms.