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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]
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–brittle hair–impaired intelligence–decreased fertility–short stature syndrome (IBIDS syndrome, sulfur-deficient brittle hair syndrome, Tay's syndrome, trichothiodystrophy, trichothiodystrophy with ichthyosis) Ichthyosis bullosa of Siemens (ichthyosis exfoliativa)
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Keratin 2A also known as keratin 2E or keratin 2 is a protein that in humans is encoded by the KRT2A gene. [5] [6]Keratin 2A is a type II cytokeratin.It is found largely in the upper spinous layer of epidermal keratinocytes and mutations in the gene encoding this protein have been associated with ichthyosis bullosa of Siemens.
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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 ...