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Results 1 - 10 of 17 for Congenital ichthyosis of skin
  1. Lamellar ichthyosis 
    ... Autosomal recessive congenital ichthyosis 8 Genetic Testing Registry: Congenital ichthyosis of skin Lamellar ichthyosis National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/genetics/condition/lamellar-ichthyosis - Genetics
  2. ABCA12 gene 
    ... Toole EA. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet. 2005 May;76(5): ... is a major causative gene for non-bullous congenital ichthyosiform erythroderma. J ... regulation and skin-barrier dysfunction. Cell Tissue Res. 2013 Feb;351( ...
    https://medlineplus.gov/genetics/gene/abca12 - Genetics
  3. Harlequin ichthyosis 
    ... Toole EA. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet. 2005 May;76(5): ...
    https://medlineplus.gov/genetics/condition/harlequin-ichthyosis - Genetics
  4. KRT10 gene 
    ... Mutations in the KRT10 gene can cause another skin disorder known as ichthyosis with confetti (also called congenital reticular ichthyosiform erythroderma), which is characterized by red, ...
    https://medlineplus.gov/genetics/gene/krt10 - Genetics
  5. Ichthyosis with confetti 
    ... Krunic AL, Palcesky D, Busbey S, Medenica M. Congenital reticular ichthyosiform erythroderma--ichthyosis variegata: a case report and review of the literature. Acta Derm Venereol. 2003;83(1):36-9. doi: 10.1080/00015550310002684. Citation on PubMed
    https://medlineplus.gov/genetics/condition/ichthyosis-with-confetti - Genetics
  6. Nonbullous congenital ichthyosiform erythroderma 
    ... Citation on PubMed Takeichi T, Akiyama M. Inherited ichthyosis: Non-syndromic forms. J Dermatol. 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. Citation on PubMed
    https://medlineplus.gov/...ous-congenital-ichthyosiform-erythroderma - Genetics
  7. Trichothiodystrophy 
    ... Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities including degeneration ...
    https://medlineplus.gov/genetics/condition/trichothiodystrophy - Genetics
  8. Epidermolytic hyperkeratosis 
    ... and symptoms of the condition. BCIE BIE Bullous congenital ... IA, Syed DN, Adhami VM, Liovic M, Mukhtar H. Keratin gene mutations in disorders of human skin and its appendages. Arch Biochem Biophys. 2011 Apr ...
    https://medlineplus.gov/.../condition/epidermolytic-hyperkeratosis - Genetics
  9. Sjögren-Larsson syndrome 
    ... syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems. These symptoms are ... not show signs and symptoms of the condition. Congenital ... SLS Genetic Testing ...
    https://medlineplus.gov/genetics/condition/sjogren-larsson-syndrome - Genetics
  10. TGM1 gene 
    ... phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet. 2009 Feb; ... JR. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling ...
    https://medlineplus.gov/genetics/gene/tgm1 - Genetics
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