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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 ]
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)
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.
Epidermolysis bullosa is a rare type of genodermatosis, people with this disease have blisters on their skin and this disease is never completely cured for a lifetime. [13] Epidermolysis bullosa is mainly subdivided into four types: dystrophic epidermolysis bullosa , epidermolysis bullosa simplex, junctional epidermolysis bullosa and kindler ...
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 ...
Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs. [ 1 ] [ 2 ] "Butterfly child" is the colloquial name for children born with the disease, as their skin is seen to be as delicate and fragile as the wings of a butterfly.
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.