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Ichthyosis bullosa of Siemens: A unique type of epidermolytic hyperkeratosis [PDF]
Journal of the American Academy of Dermatology, 1986 We report the second family of ichthyosis bullosa, an entity that was first described by Siemens in 1937 and since then has fallen into oblivion. Clinically, ichthyosis bullosa is characterized by blistering resembling epidermolysis bullosa simplex and by generalized, yet circumscribed dark gray hyperkeratoses covering mainly the arms and the legs ...
Heiko Traupe +3 more
semanticscholar +4 more sources
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
Nature Genetics, 1994 Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant skin disorder that resembles epidermolytic hyperkeratosis (EHK). We have identified mutations in two families originally diagnosed with EHK and in four families diagnosed with IBS at the same codon in the highly conserved carboxy terminal of the rod domain of keratin 2e, thus revealing a ...
Joseph A. Rothnagel +8 more
semanticscholar +6 more sources
Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens
British Journal of Dermatology, 2007 Bullous congenital ichthyosiform erythroderma (BCIE) is a severe autosomal dominant inherited skin disorder caused by keratin 1 (K1) gene (KRT1) or keratin 10 (K10) gene (KRT10) mutations. Patients with BCIE show generalized erythema and bullae from birth. Histopathologically, granular degeneration is seen in the middle to upper epidermis.
Akiko Tsubota +6 more
semanticscholar +5 more sources
Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing
British Journal of Dermatology, 2005 Ichthyosis bullosa of Siemens (IBS, MIM 146800) is a unique congenital ichthyosis characterized by mild epidermal hyperkeratosis over flexural areas, blister formation and the development of superficially denuded areas of hyperkeratotic skin. It is clinically difficult to distinguish severe IBS from mild bullous congenital ichthyosiform erythroderma ...
Masashi Akiyama +8 more
semanticscholar +5 more sources
Ichthyosis bullosa of Siemens: Further delineation of the phenotype
Archives of Dermatological Research, 1990 We report a third family affected with ichthyosis bullosa of Siemens, and we further delineate the clinical spectrum of this mild type of epidermolytic hyperkeratosis. Erythroderma had never been present in any of the affected individuals. All of them exhibited a brownish, rimpled hyperkeratosis, the main characteristic sites being the joints, the ...
Peter M. Steijlen +4 more
semanticscholar +5 more sources