Results 11 to 20 of about 167,440,664 (116)

Ichthyosis Bullosa of Siemens Is Caused by Mutations in the Keratin 2e Gene [PDF]

Journal of Investigative Dermatology, 1994
Ichthyosis bullosa of Siemens is a blistering disorder with autosomal dominant inheritance. The disease resembles bullous congenital ichthyosiform erythroderma but is less severe. Keratins K1 and K10 have been implicated in bullous congenital ichthyosiform erythroderma. Linkage analysis pointed to the involvement of a keratin type II gene (12q11-13) in
Kremer, Hannie, Zeeuwen, Patrick, McLean, W H Irwin, Mariman, Edwin C M, Lane, E Birgitte, van de Kerkhof, Peter C M, Ropers, Hans-Hilger, Steijlen, Peter M   +7 more
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A New Keratin 2e Mutation in Ichthyosis Bullosa of Siemens [PDF]

Journal of Investigative Dermatology, 1997
Ichthyosis bullosa of Siemens (IBS) is a rare autosomal dominant skin condition with features similar to epidermolytic hyperkeratosis (EH). Clinical symptoms are characterized by mild hyperkeratosis with an acral distribution. Histology shows epidermolysis of upper spinous and granular cells, whereas ultrastructurally, tonofilaments form perinuclear ...
Jones, David O, Watts, Clair, Mills, Caroline, Sharpe, Graham, Marks, Ronald, Bowden, Paul E.   +5 more
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Genetic Linkage of the Keratin Type II Gene Cluster with Ichthyosis Bullosa of Siemens and with Autosomal Dominant Ichthyosis Exfoliativa [PDF]

Journal of Investigative Dermatology, 1994
Ichthyosis bullosa of Siemens is an autosomal dominant disease characterized by mild hyperkeratosis and blistering. Autosomal dominant ichthyosis exfoliativa is a recently described disease with clinical features similar to ichthyosis bullosa of Siemens, but in contrast to ichthyosis bullosa of Siemens no histologic signs typical for epidermolytic ...
Steijlen, Peter M, Kremer, Hannie, Vakilzadeh, Fereydoun, Happle, Rudolf, Lavrijsen, Adriana P M, Ropers, Hans-Hilger, Mariman, Edwin C M   +6 more
openaire   +3 more sources

Ichthyosis bullosa of Siemens sans history of blistering: an interesting case report

Journal of Pakistan Association of Dermatologists, 2016
Ichthyosis bullosa of Siemens (IBS) is a rare disease characterized by superficial blistering, mild epidermal hyperkeratosis over flexural areas and characteristic mauserang phenomenon (moulting).We report an interesting case of IBS in a mentally retarded hypothyroid patient who did not give any history of blistering.
Sankha Koley, Atul Salodkar, Sumit Gupta, Arvind Bhanke, Ashish Ujawane, Shazia Bisati   +5 more
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A Glutamate to Lysine Mutation at the End of 2B Rod Domain of Keratin 2e Gene in Ichthyosis Bullosa of Siemens

Acta Dermato-Venereologica, 1998
Ichthyosis bullosa of Siemens is a rare autosomal dominant skin disorder whose clinical findings are quite similar to those of epidermolytic hyperkeratosis. The differences between those two diseases include absence of erythroderma and different distributions in the skin in ichthyosis bullosa of Siemens.
J M, Yang, E S, Lee, H J, Kang, G S, Choi, K, Yoneda, S Y, Jung, K B, Park, P M, Steinert, E S, Lee   +8 more
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Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma. [PDF]

J Eur Acad Dermatol Venereol, 2022
Abstract The broad differential diagnosis of neonatal erythroderma often poses a diagnostic challenge. Mortality of neonatal erythroderma is high due to complications of the erythroderma itself and the occasionally severe and life‐threatening underlying disease.
Cuperus E, Bygum A, Boeckmann L, Bodemer C, Bolling MC, Caproni M, Diociaiuti A, Emmert S, Fischer J, Gostynski A, Guez S, van Gijn ME, Hannulla-Jouppi K, Has C, Hernández-Martín A, Martinez AE, Mazereeuw-Hautier J, Medvecz M, Neri I, Sigurdsson V, Suessmuth K, Traupe H, Oji V, Pasmans SGMA.   +23 more
europepmc   +2 more sources

Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents. [PDF]

Pediatr Dermatol, 2021
Abstract Topical and systemic retinoids have long been used in the treatment of ichthyoses and other disorders of cornification. Due to the need for long‐term use of retinoids for these disorders, often beginning in childhood, numerous clinical concerns must be considered. Systemic retinoids have known side effects involving bone and eye. Additionally,
Zaenglein AL, Levy ML, Stefanko NS, Benjamin LT, Bruckner AL, Choate K, Craiglow BG, DiGiovanna JJ, Eichenfield LF, Elias P, Fleckman P, Lawley LP, Lewis RA, Lucky AW, Mathes EF, Milstone LM, Paller AS, Patel SS, Siegel DH, Teng J, Tanumihardjo SA, Thaxton L, Williams ML, PeDRA Use of Retinoids in Ichthyosis Work Group.   +23 more
europepmc   +2 more sources

Narrowing the Differential: A Unique Case of Dystrophic Epidermolysis Bullosa. [PDF]

Case Rep Pediatr
Dystrophic epidermolysis bullosa (DEB) is a rare inherited skin disorder characterized by mechanical stress‐induced blistering and skin erosion. Diagnosis is confirmed through molecular genetic testing, typically identifying mutations in the COL7A1 gene. DEB can mimic other neonatal dermatologic conditions, making early identification challenging.
Yacobucci L, Edwards C, Oosbree AV, Newman R.   +3 more
europepmc   +2 more sources

Genetic testing and new variants in diagnosis of congenital ichthyoses. [PDF]

Mol Genet Genomic Med
The aim of this study was to evaluate how diagnostic practice in congenital ichthyoses has evolved during the years 2000–2020 and what kind of gene variants of congenital ichthyosis have been found. We observed four novel variants in patients with the clinical diagnoses of congenital ichthyoses.
Salo M, Kimpimäki T, Huhtala H, Saarela T.   +3 more
europepmc   +2 more sources

Ichthyosis Bullosa of Siemens [PDF]

, 2020
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