Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 12 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. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. Vohwinkel syndrome 
    ... the skin features also include widespread dry, scaly skin (ichthyosis), especially on the limbs. The ichthyosis is usually ... thinner than normal in affected individuals, resulting in ichthyosis and the other skin abnormalities associated with the variant form of Vohwinkel ...
    https://medlineplus.gov/genetics/condition/vohwinkel-syndrome - Genetics
  9. X-linked chondrodysplasia punctata 2 
    ... 2 are born with dry, scaly patches of skin (ichthyosis) in a linear or spiral (whorled) pattern. The scaly patches fade over time, leaving abnormally colored blotches of skin without hair (follicular atrophoderma). Most affected individuals also ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-2 - Genetics
  10. Stormorken syndrome 
    ... include lack of a functioning spleen (asplenia), scaly skin (ichthyosis), headaches, and difficulty with reading and spelling (dyslexia). ...
    https://medlineplus.gov/genetics/condition/stormorken-syndrome - Genetics
previous · 1 · 2 · next