Ichthyosis bullosa of Siemens

Ichthyosis bullosa of Siemens is a type of familial, autosomal dominant ichthyosis, a rare skin disorder.: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.Ankyrin: Long QT syndrome 4 Ichthyosis bullosa of Siemens is a type of familial, autosomal dominant ichthyosis, a rare skin disorder.: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. Ichthyosis bullosa of Siemens has symptoms very similar to epidermolytic hyperkeratosis but is generally milder. Ichthyosis bullosa of Siemens affects only the upper layers of the epidermis whilst epidermolytic hyperkeratosis affects the suprabasal layer which is deeper in the skin. At birth the baby's skin has a red appearance like a sun burn (erythema). Blistering is usually present at birth and may be extensive or localized depending on the severity of the disease. Over the first few weeks the redness disappears and is replaced by dry, flaking skin on the arms, legs and around the belly button. Other areas of skin appear normal. The skin is fragile and is prone to blistering (caused by mild trauma or sweating). After a few months hyperkeratosis develops with a dark grey or brown, ridged appearance on the ankles, knees and elbows. Palms and soles are generally unaffected. A slightly unpleasant, sweet odour may be present. A distinctive characteristic of ichthyosis bullosa of Siemens that is not present in other forms of ichthyosis is called the 'Mauserung phenomenon' (Mauserung is German for 'moulting' and was first described by H.W.Siemens). These are small patches of bare, apparently normal skin in the middle of areas of hyperkeratosis. As the sufferer ages the flaking and blistering should improve. The hyperkeratosis may grow more severe but more localized and is generally only present on flexural folds of the major joints. Ichthyosis bullosa of Siemens is an autosomal dominant genetic condition caused by a mutation in the gene for keratin 2e on chromosome 12.:563This means an affected person has a 50% chance of passing the condition on to their child. However, in about half of cases, there is no parent with the condition the genetic fault is due to a spontaneous mutation.