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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]
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 ]
Palms, soles and areas on the joints are often affected with hyperkeratosis, a thickening of the layer of dead skin cells on the surface of the skin forming scales. 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]
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] 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 ...
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]
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]
X-linked ichthyosis (abbreviated XLI) is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. [2] XLI manifests with dry, scaly skin [3] and is due to deletions [4] [5] or mutations [6] in the STS gene.
Epidermolytic ichthyosis (EI), [a] is a severe form of dry scaly skin, that initially presents with redness, blisters, erosions, and peeling in a newborn baby. [5] [6] Hyperkeratosis typically develops several months later. [6] Other symptoms include itch, painful fissures, strong body odor, and absence of sweat. [6]