October 2024 in “Indian Journal of Dermatology” Early biopsy is crucial for diagnosing rare skin sarcoidosis, improving treatment.
1 citations
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June 2016 in “FEBS open bio” Fish oil increased cell growth and macrophages in the skin but didn't affect COX-2 expression.
January 2013 in “International Journal of Trichology” Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
79 citations
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February 2009 in “Human Genetics” 59 citations
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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.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
September 2024 in “Dermatologica Sinica” Ponatinib can cause a rare skin reaction that resolves with topical treatment and temporary drug discontinuation.
4 citations
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May 2018 in “Türk pediatri arşivi : İstanbul çocuk kliniği dergisi” Oral retinoic acid effectively treated collodion baby, with hair loss as the main side effect.
August 2024 in “International Journal of Women’s Dermatology” Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
97 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
51 citations
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December 2006 in “Mammalian Genome” 26 citations
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May 2016 in “Journal of biological chemistry/The Journal of biological chemistry” sPLA2-IIE is crucial for normal hair follicle structure and skin health.
22 citations
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
14 citations
,
July 1994 in “Journal of Dermatological Science” Keratin mutations may cause scarring alopecia by damaging hair structure.
12 citations
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May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Laminin 332 is essential for normal skin cell behavior and structure.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
May 2023 in “Indian journal of dermatology, venereology, and leprology” The document concludes that understanding tissue degeneration is crucial for diagnosing skin lesions.
124 citations
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January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
21 citations
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March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
9 citations
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January 2015 in “Indian Dermatology Online Journal” Early diagnosis and treatment of Kaposi varicelliform eruption are crucial to prevent severe complications.
1 citations
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December 2020 in “Acta dermato-venereologica” Some scalp sores are linked to different inherited skin conditions.
1 citations
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February 2013 in “InTech eBooks” LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
July 2021 in “Authorea (Authorea)” Graham-Little Piccardi Lassueur Syndrome is a rare skin condition with specific hair loss and skin symptoms.
Recognizing bamboo hair helps diagnose Netherton’s syndrome.
136 citations
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April 2010 in “British Journal of Dermatology” Acitretin is effective for severe skin conditions but has significant side effects and requires careful monitoring.
98 citations
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December 2015 in “The Journal of Cell Biology” Keratin is crucial for skin barrier formation and affects mitochondrial function.
97 citations
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March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
74 citations
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July 2008 in “Journal of Dermatological Case Reports” Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
62 citations
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October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.