27 citations
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July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
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.
10 citations
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April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
3 citations
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March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
3 citations
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March 1998 in “PubMed” A woman's skin and hair conditions improved after her cancerous tumor was removed.
1 citations
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January 2019 in “International Journal of Medical Reviews and Case Reports” Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
January 2022 in “Indian dermatology online journal” A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
March 1998 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Removing a tumor may resolve associated skin and hair symptoms.
23 citations
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December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
16 citations
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January 2000 in “Dermatology” Men with X-linked recessive ichthyosis can still experience male-pattern baldness.
9 citations
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January 1999 in “Dermatology” Men with X-linked recessive ichthyosis may not experience typical male-pattern baldness.
8 citations
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September 1987 in “Acta Dermato Venereologica” Recessive X-linked ichthyosis involves a less efficient enzyme in hair follicles, suggesting two distinct enzymes.
6 citations
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January 2003 in “Dermatology” Men with X-linked recessive ichthyosis often experience male-pattern baldness.
5 citations
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May 2018 in “Veterinary dermatology” Gluconolactone products can significantly reduce skin scaling in golden retrievers with ARCI.
3 citations
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September 2016 in “Pediatric Dermatology” Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
November 2024 in “Journal of Investigative Dermatology” Hair evaluation is crucial for early diagnosis and management of ARCI, as hair loss often indicates severity.
3 citations
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August 2024 in “Dermatology and Therapy” Gene and cell therapies are being developed to treat rare skin conditions like epidermolysis bullosa and ichthyosis.
1 citations
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December 2020 in “Acta dermato-venereologica” Some scalp sores are linked to different inherited skin conditions.
114 citations
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May 2001 in “Development” Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
96 citations
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August 1995 in “Bone” Vitamin D3 is important for bone health and may help treat various diseases beyond bone-related conditions.
53 citations
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September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
46 citations
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September 2010 in “Veterinary Dermatology” Many alpacas have skin diseases, with bacterial infections being the most common.
32 citations
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March 1988 in “International Journal of Dermatology” Retinoids can help treat skin disorders by improving the skin's outer layer.
16 citations
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October 2014 in “Cell death and disease” FoxN1 overexpression in young mice harms immune cell and skin development.
11 citations
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March 2004 in “Journal of Comparative Pathology” Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
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.
7 citations
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November 1997 in “Pediatric Dermatology” Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
1 citations
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October 1996 in “Journal of Cutaneous Medicine and Surgery” Gene therapy shows promise for treating skin disorders and cancer, but faces technical challenges.
1 citations
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July 2025 in “Frontiers in Genetics” FilaggrinHigh melanomas have active FGFR signaling and weak GNA14 and Th1 signatures.