Results 111 to 120 of about 371 (141)

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.
P M, Steijlen, R J, van Dooren-Greebe, R, Happle, P C, Van de Kerkhof   +3 more
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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 ...
M E, Murdoch, I M, Leigh
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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 ...
Rothnagel, J. A., Traupe, H., Wojcik, S., Huber, M., Hohl, D., Pittelkow, M. R., Saeki, H., Ishibashi, Y., Roop, D. R.   +8 more
openaire   +3 more sources

Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene

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, null Cserhalmi-Friedman, null Grossman, null Schneiderman, null Christiano   +4 more
openaire   +3 more sources

Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature

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.
T, Basarab, F J, Smith, V M, Jolliffe, W H, McLean, S, Neill, M H, Rustin, R A, Eady   +6 more
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Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens

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.
Y, Suga, M J, Arin, G, Scott, L A, Goldsmith, C M, Magro, L A, Baden, H P, Baden, D R, Roop   +7 more
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Ichthyosis Bullosa of Siemens

2011
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A case of ichthyosis bullosa of Siemens misdiagnosed as progressive symmetric erythrokeratoderma

Chinese Journal of Dermatology, 2023
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Ichthyosis

American Journal of Clinical Dermatology, 2012
John Digiovanna
exaly   +2 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
openaire   +1 more source