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Ichthyosis (also named fish scale disease) [1] is a family of genetic skin disorders characterized by dry, thickened, scaly skin. [2] The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive , autosomal or X-linked ). [ 3 ]
Ichthyosis vulgaris (also known as "autosomal dominant ichthyosis" [1] and "Ichthyosis simplex" [1]) is a skin disorder causing dry, scaly skin. It is the most common form, and one of the mildest forms, of ichthyosis, [2] [3]: 486 affecting around 1 in 250 people. [4] For this reason it is known as common ichthyosis.
A child with Harlequin-type ichthyosis. Visible plates on the skin and changes in the appearance of the ears and fingers, are symptoms of Harlequin-type ichthyosis. [10] Newborns with harlequin-type ichthyosis present with thick, fissured armor-plate hyperkeratosis. [11] Sufferers feature severe cranial and facial deformities.
In most cases, the baby develops an ichthyosis or ichthyosis-like condition or other rare skin disorder. Most cases (approximately 75%) of collodion baby will go on to develop a type of autosomal recessive congenital ichthyosis (either lamellar ichthyosis or congenital ichthyosiform erythroderma). [5]
Ichthyosis bullosa of Siemens is a type of familial, autosomal dominant ichthyosis, a rare skin disorder. [1]: 491 It is also known as bullous congenital ichthyosiform erythroderma of Siemens or ichthyosis exfoliativa. It is a genetic disorder with no known cure which is estimated to affect about 1 in 500,000 people. [2]
When the tissue does not heal properly it can result in the outward turning of the lip. Also, If a mother tests positive for a mutation in the ABCA12 gene, [6] eclabium as a result of Ichthyosis can be present in the child. Ichthyosis is characterized by tight scaly skin along with ectropion [citation needed] which is outward turning of eyelids ...
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Ichthyosis en confetti, is a very rare form of congenital ichthyosis in which healthy patches of normal skin co-exist within the abnormal skin areas. [2] The condition is caused by a frameshift mutation in the keratin 10 gene (KRT10); [3] mutant keratin 10 accumulates in the nucleolus, a sub-nuclear structure, rather than within cellular intermediate filaments like the wild-type protein.