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
Ichthyosis follicularis with alopecia and photophobia syndrome form, there is another type where females are partially affected and another where females have full IFAP symptoms. The gene or genes causing this disease are not known. Diagnosis is based on appearance and family history. KID syndrome or keratosis follicularis spinulosa decalvans have some similar symptoms and must be eliminated. Ichthyosis follicularis with alopecia and photophobia syndrome IFAP syndrome is an extremely rare genetic syndrome. It is also known as Ichthyosis follicularis, alopecia, and photophobia syndrome or simply ichthyosis follicularis. It is extremely rare: there were only 10 known cases (all male) in 1998. The main symptoms are given