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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]
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.
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 ]
Known causes of collodion baby include ichthyosis vulgaris and trichothiodystrophy. [3] Less well documented causes include Sjögren-Larsson syndrome , Netherton syndrome , Gaucher disease type 2, congenital hypothyroidism , Conradi syndrome , Dorfman-Chanarin syndrome , ketoadipiaciduria , koraxitrachitic syndrome , ichthyosis variegata and ...
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.
Ichthyosis hystrix is a group of rare skin disorders in the ichthyosis family of skin disorders characterized by massive hyperkeratosis with an appearance like spiny scales. [1] This term is also used to refer to a type of epidermal nevi with extensive bilateral distribution.
Unfortunately, most conditions that cause eclabium, such as ichthyosis, have a very high mortality rate with worldwide figure approaching 50 percent. However, eclabium caused by improper wound healing is usually reversible through another corrective surgery and has little to no mortality. Scarring can occur from surgery to correct eclabium.
Sjögren–Larsson syndrome is a rare autosomal recessive form of ichthyosis with neurological symptoms. [1]: 485 [2]: 564 [3] It can be identified by a triad of medical disorders. The first is ichthyosis, which is a buildup of skin to form a scale-like covering that causes dry skin and other problems.