Search results
Results From The WOW.Com Content Network
Lamellar ichthyosis, also known as ichthyosis lamellaris and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people.
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 ]
Eclabium (eversion of the lips), ectropion and alopecia (hair loss) are more common in congenital ichthyosiform erythroderma than in lamellar ichthyosis. [ 3 ] [ non-primary source needed ] Congenital ichthyosiform erythroderma can present very similarly to lamellar ichthyosis and they often share characteristics, though the two conditions can ...
Mutations in the ABCA12 gene also cause another severe skin disorder, lamellar ichthyosis type 2. [8] [9] People with this disorder have red, scaly, plate-like skin covering most of their bodies. The ABCA12 mutations that cause this disorder substitute one amino acid (a building block of proteins) for another amino acid in the ABCA12 protein.
A child with Harlequin-type ichthyosis.Visible plates on the skin, as well as a change in the appearance of the ears and fingers,which 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.
A deficiency is associated with ichthyosis lamellaris. [11] Epidermal transglutaminase is the autoantigen, in humans, of dermatitis herpetiformis.. A study on the mutation of keratinocyte transglutaminase (TGK) came to conclude that those affected with ichthyosis lamellaris, present a substantial deficit in keratinocyte transglutaminase activity. [8]
Eclabium can be a lifelong disorder, but drug treatment for the causing disease would heal the lips as well. For example for harlequin ichthyosis drugs such as Tazarotene [citation needed] and isotretinoin [citation needed] have been used to help the skin heal and loosen up which helps the eclabium heal. But sometimes surgery might become ...
Ichthyosis vulgaris (autosomal dominant ichthyosis, ichthyosis simplex) Ichthyosis with confetti; Neonatal ichthyosis–sclerosing cholangitis syndrome (ichthyosis–sclerosing cholangitis syndrome, NISCH syndrome) Incontinentia pigmenti achromians (hypomelanosis of Ito) Immune dysfunction–polyendocrinopathy–enteropathy–X-linked syndrome