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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]
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]
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]
In around 10% of cases the baby sheds this layer of skin and has normal skin for the rest of its life. [2] [5] This is known as self-healing collodion baby. The remaining 15% of cases are caused by a variety of diseases involving keratinization disorders. [5] Known causes of collodion baby include ichthyosis vulgaris and trichothiodystrophy. [3]
Flaking of skin on eyelids – due to tear film suppressed by clogged meibomian glands. [7] Gritty/burning sensation in the eye, or foreign-body sensation – due to crusting from bacteria and clogged oil glands [7] Frequent blinking – due to impaired tear film from clogged oil glands unable to keep tears from evaporating. [7]
The basics: Eat like a caveman, focusing on lean meats and fish, nuts and seeds, fruits and vegetables. Avoid dairy, sugar, legumes and grains. Positives: Effective for weight loss, appetite ...
Porphyria / p ɔːr ˈ f ɪr i ə / is a group of disorders in which substances called porphyrins build up in the body, adversely affecting the skin or nervous system. [1] The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and short in duration. [1]
Pseudoexfoliation syndrome, often abbreviated as PEX [1] and sometimes as PES or PXS, is an aging-related systemic disease manifesting itself primarily in the eyes which is characterized by the accumulation of microscopic granular amyloid-like protein fibers. [2]