Ichthyosis bullosa of Siemens present. A distinctive characteristic of IBS which 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. IBS is an autosomal dominant genetic condition caused by a mutation in the gene for keratin 2e on chromosome 12. This means
Adult polyglucosan body disease go to the doctor due to trouble with urination. The condition is diagnosed by gathering symptoms, a neurological examination, laboratory tests including genetic testing, and medical imaging. As of 2015 there was no cure or treatment, but the symptoms could be managed. People diagnosed with APBD can live a long time after diagnosis, but will probably die earlier than people without the condition. Adult polyglucosan body disease is an orphan disease and a glycogen storage disorder that is caused by an inborn error of metabolism, that affects the central and peripheral nervous systems. The condition in newborns caused by the