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Results 21 - 30 of 33 for Ichthyosis
  1. ALOX12B gene 
    ... have been found to cause another form of ichthyosis called self-healing collodion baby. Individuals with this ... analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic ...
    https://medlineplus.gov/genetics/gene/alox12b - Genetics
  2. KRT1 gene 
    ... responsible for a skin disorder called Curth-Macklin ichthyosis hystrix. This condition involves severe hyperkeratosis on the ... genetic changes in the KRT1 gene called cyclic ichthyosis with epidermolytic hyperkeratosis is similar to epidermolytic hyperkeratosis, ...
    https://medlineplus.gov/genetics/gene/krt1 - Genetics
  3. Multiple sulfatase deficiency 
    ... slow growth. They also have dry, scaly skin (ichthyosis) and excess hair growth (hypertrichosis). Skeletal abnormalities can ... with the neonatal type, but they often have ichthyosis, skeletal abnormalities, and coarse facial features.The juvenile ...
    https://medlineplus.gov/.../condition/multiple-sulfatase-deficiency - Genetics
  4. Stormorken syndrome 
    ... lack of a functioning spleen (asplenia), scaly skin (ichthyosis), headaches, and difficulty with reading and spelling (dyslexia). ... thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis. Clin Genet. 1985 Nov;28(5):367-74. ...
    https://medlineplus.gov/genetics/condition/stormorken-syndrome - Genetics
  5. X-linked chondrodysplasia punctata 2 
    ... are born with dry, scaly patches of skin (ichthyosis) in a linear or spiral (whorled) pattern. The ... Hoang MP, Carder KR, Pandya AG, Bennett MJ. Ichthyosis and keratotic follicular plugs containing dystrophic calcification in ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-2 - Genetics
  6. ALOXE3 gene 
    ... analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic ... type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 2005 Oct;26(4):351-61. ...
    https://medlineplus.gov/genetics/gene/aloxe3 - Genetics
  7. ALDH3A2 gene 
    ... syndrome, a condition characterized by dry, scaly skin (ichthyosis); neurological abnormalities; and eye problems. Many of these ... Jennings MA, Crumrine DA, Williams ML, Elias PM. Ichthyosis in Sjogren-Larsson syndrome reflects defective barrier function ...
    https://medlineplus.gov/genetics/gene/aldh3a2 - Genetics
  8. Trichothiodystrophy 
    ... features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of ...
    https://medlineplus.gov/genetics/condition/trichothiodystrophy - Genetics
  9. Gaucher disease 
    ... accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; ...
    https://medlineplus.gov/genetics/condition/gaucher-disease -
  10. Refsum disease 
    ... coordination (ataxia); hearing loss; and dry, scaly skin (ichthyosis). Additionally, some people with Refsum disease develop an ...
    https://medlineplus.gov/genetics/condition/refsum-disease - Genetics
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