Ichthyosis bullosa of Siemens
... is a type of familial, autosomal dominant ichthyosis, a rare skin disorder.: 491 It is also known ... Ichthyosis bullosa of Siemens was first described by the German dermatologist Hermann Werner Siemens in 1937 from his study of ... In the same year, it was also proved that ichthyosis exfoliativa is the same disease as ichthyosis bullosa of Siemens. List of ... Ichthyosis bullosa of Siemens has symptoms very similar to epidermolytic hyperkeratosis but is generally milder. Ichthyosis ...
List of OMIM disorder codes
ALOXE3 Ichthyosis bullosa of Siemens; 146800; KRT2 Ichthyosis follicularis, atrichia, and photophobia syndrome; 308205; MBTPS2 ... KRT1 Ichthyosis prematurity syndrome; 608649; SLC27A4 Ichthyosis vulgaris; 146700; FLG Ichthyosis with confetti; 609165; KRT10 ... KRT10 Ichthyosis, harlequin; 242500; ABCA12 Ichthyosis, lamellar 2; 601277; ABCA12 Ichthyosis, lamellar, 3; 604777; CYP4F22 ... Ichthyosis with hypotrichosis; 610765; ST14 Ichthyosis, congenital, autosomal recessive; 612281; ICHYN Ichthyosis, cyclic, with ...
Keratin 2A
1999). "Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the ... 1999). "Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin ... 1998). "A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens". Acta ... 2007). "A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens". Br. J. ...
Keratin 1
... in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens ...
IBS
... a statistical rate Ichthyosis bullosa of Siemens, a genetic skin disorder Irritable bowel syndrome, a disorder of the bowel ...
Hermann Werner Siemens
Hallopeau-Siemens syndrome (Recessive dystrophic epidermolysis bullosa) Ichthyosis bullosa of Siemens Bloch-Siemens syndrome ( ... Siemens was not a member of the NSDAP and his research was not well-liked by the Nazi Party. Siemens' research into hereditary ... Siemens was a major figure in the German racial hygiene movement by the early 1920s; Siemens later supported the Nazis and ... Siemens was involved in racial hygiene and affiliated with the Nazi Party. Siemens studied at Berlin and Munich universities, ...
List of diseases (I)
... mental retardation Ichthyosis and male hypogonadism Ichthyosis bullosa of Siemens Ichthyosis cheek eyebrow syndrome Ichthyosis ... dwarfism renal impairment Ichthyosis microphthalmos Ichthyosis tapered fingers midline groove up Ichthyosis vulgaris Ichthyosis ... type Ichthyosis linearis circumflexa Ichthyosis male hypogonadism Ichthyosis mental retardation Devriendt type Ichthyosis ... erythrokeratolysis hemalis Ichthyosis, keratosis follicularis spinulosa Decalvans Ichthyosis, lamellar recessive Ichthyosis, ...
Chromosome 12
II and XI cornea plana 2 episodic ataxia hereditary hemorrhagic telangiectasia hypochondrogenesis ichthyosis bullosa of Siemens ...
Keratin
Alopecia Areata Epidermolysis bullosa simplex Ichthyosis bullosa of Siemens Epidermolytic hyperkeratosis Steatocystoma ...
Epidermolytic hyperkeratosis
Hyperkeratosis Ichthyosis Ichthyosis bullosa of Siemens Isotretinoin (Accutane) List of cutaneous conditions List of cutaneous ... Epidermolytic ichthyosis (EI), is a rare and severe form of ichthyosis that affects around 1 in 300,000 people. It is caused by ... FIRST has been instrumental in furthering our research efforts related to ichthyosis," she said. Until gene therapy solutions ... "FIRST Funded Research , Foundation for Ichthyosis & Related Skin Types (FIRST)". Archived from the original on 2020-10-30. ...
List of skin conditions
... trichothiodystrophy with ichthyosis) Ichthyosis bullosa of Siemens (ichthyosis exfoliativa) Ichthyosis follicularis (ichthyosis ... Ichthyosis linearis circumflexa Ichthyosis prematurity syndrome Ichthyosis vulgaris (autosomal dominant ichthyosis, ichthyosis ... Recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens variant of epidermolysis bullosa, Hallopeau-Siemens disease) ... Dowling-Meara epidermolysis bullosa simplex) Epidermolysis bullosa simplex Epidermolysis bullosa simplex of Ogna Epidermolysis ...