Results 121 to 130 of about 450 (144)
British Journal of Dermatology, 2001 The intermediate filaments of epithelial cells are formed by keratins, a family of structurally related proteins, which are expressed in pairs of acidic (type I) and basic (type II) polypeptides in a tissue- and differentiation-specific manner. Mutations in the genes encoding several keratins have been implicated in the pathogenesis of diseases of ...
Neil V. Whittock +4 more
semanticscholar +6 more sources
Ichthyosis bullosa of Siemens responds well to low-dosage oral retinoids
British Journal of Dermatology, 1991 Two patients with ichthyosis bullosa of Siemens (IBS) and one patient with bullous ichthyosiform erythroderma of Brocq (BIE) were treated with etretinate. Two additional patients with IBS received acitretin. All the patients had a marked improvement when on retinoids and the maintenance dose required was for IBS 10-25 mg per day.
Peter M. Steijlen +3 more
semanticscholar +5 more sources
Experimental Dermatology, 2000 Abstract: Ichthyosis bullosa of Siemens (IBS) is a rare disorder of cornification characterized by blister formation in the upper suprabasal layers of the epidermis. Molecular analysis of IBS has identified mutations in the keratin 2e (K2e) gene, which is located in the type II keratin gene cluster on chromosome 12q.
Yasushi Suga +7 more
semanticscholar +5 more sources
A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens
Clinical and Experimental Dermatology, 2000 Ichthyosis bullosa of Siemens (IBS; MIM: 146800) is an autosomal dominant disorder of keratinization characterized by epidermolytic hyperkeratosis without erythroderma. The clinical features are less marked than those of bullous congenital ichthyosiform erythroderma with relatively mild hyperkeratosis usually limited to the skin flexures.
Alan D. Irvine +4 more
semanticscholar +5 more sources
British Journal of Dermatology, 1999 We report a large family with ichthyosis bullosa of Siemens (IBS) including eight affected members spanning three generations. The classical features of the disease were consistently observed with blistering, superficial peeling of the skin, and localized lichenified hyperkeratosis mainly confined to the limbs.
Basarab +6 more
semanticscholar +5 more sources
Ichthyosis bullosa of Siemens and bullous ichthyosiform erythroderma-variants of the same disease?
Clinical and Experimental Dermatology, 1990 A patient is described with features of both bullous ichthyosiform erythroderma (BIE) and ichthyosis bullosa--a separate entity first described in 1937 by Siemens. This combination of characteristics has not been previously reported. Bullous ichthyosiform erythroderma and ichthyosis bullosa of Siemens, occurring together in this patient may best be ...
Michele E. Murdoch, Irene M. Leigh
semanticscholar +5 more sources
Clinical and Experimental Dermatology, 1999 Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant disorder of keratinization. It is characterized by a mild epidermolytic ichthyosis which tends to localize to the flexures. Affected individuals are born with widespread blistering, which develops into large hyperkeratotic plaques over the extremities.
Moraru +4 more
semanticscholar +4 more sources
Ichthyosis Bullosa of Siemens: A Topical Therapy Option
Archives of Dermatology, 1999 Gloria Sanclemente
semanticscholar +4 more sources
(36) Mixed features of bullous ichthyosiform erythroderma and ichthyosis bullosa of Siemens
British Journal of Dermatology, 1991 Michele E. Murdoch, Irene M. Leigh
semanticscholar +4 more sources