MeSH definition : An autosomal dominant form of ichthyosis characterized by generalized reddening of
the skin (ERYTHEMA) and widespread blistering. The disease shows similar, but somewhat
milder, clinical and histopathological findings to those in HYPERKERATOSIS, EPIDERMOLYTIC
and is associated with the gene that encodes KERATIN-2A.;
MeSH synonym : siemens ichthyosis bullosa; ichthyosis, bullous type of siemens; bullous type of ichthyosis; ichthyosis bullous type; ichthyosis, bullous type; bullous type ichthyoses; bullous type ichthyosis; ichthyoses, bullous type;
CISMeF synonym : Siemens;
Wikipedia link : https://en.wikipedia.org/wiki/Siemens;
An autosomal dominant form of ichthyosis characterized by generalized reddening of
the skin (ERYTHEMA) and widespread blistering. The disease shows similar, but somewhat
milder, clinical and histopathological findings to those in HYPERKERATOSIS, EPIDERMOLYTIC
and is associated with the gene that encodes KERATIN-2A.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=455 2012 true France French rare diseases ichthyosis bullosa of siemens ichthyosis bullosa of siemens ichthyosis bullosa of siemens signs and symptoms scientific and technical information