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ichthyosis bullosa of Siemens患者に同定された新しいkeratin2e遺伝子変異
ichthyosis bullosa of Siemens患者に同定された新しいkeratin2e遺伝子変異openaire +1 more source
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 ...
Daniel Hohl +2 more
exaly +7 more sources
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Ichthyosis bullosa of Siemens: Further delineation of the phenotype
Archives of Dermatological Research, 1990We 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 ...
Rudolf Happle, C M Perret, D J Ruiter
exaly +3 more sources
Ichthyosis bullosa of Siemens and bullous ichthyosiform erythroderma–variants of the same disease?
Clinical and Experimental Dermatology, 1990A 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, I M Leigh, I M Leigh
exaly +3 more sources
Ichthyosis bullosa of Siemens responds well to low-dosage oral retinoids
British Journal of Dermatology, 1991Two 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.
Rudolf Happle +2 more
exaly +3 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.
S Neill, R A Eady, T Basarab
exaly +3 more sources
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.
S Neill, R A Eady, T Basarab
exaly +3 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.
L A Goldsmith, D R Roop, H P Baden
exaly +3 more sources
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.
L A Goldsmith, D R Roop, H P Baden
exaly +3 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.
null Moraru +4 more
exaly +4 more sources
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.
null Moraru +4 more
exaly +4 more sources