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Both the familial type and Fish-eye disease are autosomal recessive disorders caused by mutations of the LCAT gene located on chromosome 16q22.1, which is the long (q) arm of chromosome 16 a position 22.1. [7] Both diseases are very rare with ~70 reported cases of familial LCAT deficiency [9] and ~30 cases of fish-eye disease. [10]
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]
A review of treatments showed that the anti-mite drug ivermectin can be an effective treatment for reducing symptoms. [24] Eye drops or ointments containing corticosteroids are frequently used in conjunction with antibiotics and can reduce eyelid inflammation. [4] [5] [25] The supplement n-acetylcysteine may be effective for blepharitis. [26]
The lips are pulled back by the dry skin . [13] Joints sometimes lack movement and may be below the normal size. Hypoplasia is sometimes found in the fingers. Polydactyly has been found on occasion. The fish mouth appearance, mouth breathing, and xerostomia place affected individuals at extremely high risk for developing rampant dental decay. [14]
PEX has been known to cause a weakening of structures within the eye which help hold the eye's lens in place, called lens zonules. [2] The literature recognizes pseudoexfoliation syndrome as a risk factor in cataract surgery. A review based on 999 eyes with pseudoexfoliation reported 156 intra- or postoperative incidents.
Keratosis pilaris (KP; also follicular keratosis, lichen pilaris, or colloquially chicken skin. [1]) is a common, autosomal-dominant, genetic condition of the skin's hair follicles characterized by the appearance of possibly itchy, small, gooseflesh-like bumps, with varying degrees of reddening or inflammation. [2]
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]
Eyelid dermatitis is commonly related to atopic dermatitis or allergic contact dermatitis. [1] Volatile substances, tosylamide/formaldehyde resin, epoxy hardeners, insect repellent sprays, and lemon peel oil may be implicated, with many cases of eyelid contact dermatitis being caused by substances transferred by the hands to the eyelids.