Results 21 to 30 of about 167,440,664 (116)

Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2

Journal of the European Academy of Dermatology and Venereology, Volume 37, Issue 4, Page 817-822, April 2023., 2023
Abstract Background Most cases of hereditary ichthyoses present with generalized scaling and skin dryness. However, in some cases skin involvement is restricted to particular body regions as in acral lamellar ichthyosis. Objectives We report on the genetic basis of acral ichthyosis in two families presenting with a similar phenotype.
Leonie Frommherz, Katalin Komlosi, Charlotte Hewel, Julia Kopp, Malin Dewenter, Andreas Zimmer, Oliver Bartsch, Matthias Linke, Kristin Technau‐Hafsi, Susanne Gerber, Judith Fischer, Cristina Has   +11 more
wiley   +1 more source

Case Report- Ichthyosis bullosa of Siemens: Response to topical tazarotene [PDF]

, 2006
In 1937, Siemens described a Dutch family with superficial blistering, flexural hyperkeratosis, and characteristic mauserung appearance. Since then, less than 20 kindreds with this condition have been described in the English dermatologic literature ...
S. Rajiv, S. V. Rakhesh
core   +2 more sources

Diagnostic Pitfalls in Newborns and Babies with Blisters and Erosions

Dermatology Research and Practice, Volume 2009, Issue 1, 2009., 2009
Establishing the correct diagnosis in newborns presenting with blisters and erosions is not always a straightforward process. Many different disease entities including acquired (i.e., infectious, immunobullous, traumatic) and inherited disorders have to be taken into consideration.
Elke Nischler, Alfred Klausegger, Clemens Hüttner, Gabriele Pohla-Gubo, Anja Diem, Johann W. Bauer, Helmut Hintner, Clay Cockerell   +7 more
wiley   +1 more source

X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient [PDF]

, 2010
X-linked ichthyosis (XLI) is a relatively common keratinization disorder which is caused, in the vast majority of cases, by a total deletion of the sulfatase steroid (STS) gene.
Hernandez Martin, Maria Angela, Cuadrado-Corrales, Natividad, Mascaro-Galy, Jose Manuel, Torrelo, Antonio, Ciria-Abad, Sara, Arias-Palomo, Dolores, Escámez Toledano, María José, García Díez, Marta, Río Nechaevsky, Marcela del, Gonzalez-Sarmiento, Rogelio   +9 more
core   +3 more sources

Epidermolysis Bullosa in Calves in the United Kingdom [PDF]

, 2010
Epidermolysis bullosa (EB) was diagnosed in eight calves from four farms in the United Kingdom on the basis of clinical, histological and ultrastructural findings. In three affected herds, pedigree Simmental bulls had been mated with Simmental-cross cows.
Skuse, A.M., Philbey, A W, Higgins, R J, Fraser, M., Thompson, H., Higgins, R.J., Day, M J, Foster, A.P., Higgins, R. J., Fraser, M.A., Day, M.J., Philbey, A. W., Thomson, J., Skuse, A M, Fraser, M A, Philbey, A., Foster, A P, Bowden, P E, Bowden, P.E., Barrett, D. C., Thomson, J. R., Bowden, P. E., Fraser, Mary, Day, M. J., Thomson, J R, Thompson, H, Barrett, D C, Fraser, M. A., Barrett, D.C., Skuse, A. M., Bowden, Paul Edward, Foster, A. P.   +31 more
core   +1 more source

The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases

Acta Dermato-Venereologica
Inherited ichthyosis comprises a spectrum of genetic disorders related to over 50 pathogenic genes. However, there are limited data summarizing the clinical and molecular characteristics of Chinese patients.
Ruiyu Xiang, Xin Huang, Yihe Liu, Shuya Sun, Di Hua, Ran Mo, Yong Yang, Zhiming Chen   +7 more
doaj   +1 more source

Generalized and Naevoid Epidermolytic Ichthyosis in Denmark : Clinical and Mutational Findings [PDF]

, 2013
A Danish Swedish collaboration was established to identify and classify a Danish cohort of patients with epidermolytic ichthyosis, also known as epidermolytic hyperkeratosis.
Bygum, Anette, Virtanen, Marie,, Brandrup, Flemming, Vahlquist, Anders, Sommerlund, Mette, Vahlquist, Anders,, Lund University., Strauss, Gitte, Bygum, Anette; id_orcid, Gånemo, Agneta,, Virtanen, Marie, Ganemo, Agneta   +11 more
core   +1 more source

X-linked ichthyosis along with epidermolysis bullosa

, 2012
Ichthyoses are a heterogenous group of hereditary keratinization disorders that share in common the accumulation & shedding of large amounts of hyperkeratotic epidermis.Early reports of ichthyosis in the Indian and Chinese literature date back to several
Shambulingappa Pallagatti, Amit Aggarwal, Soheyl Sheikh, Anupreet Kaur, Ravinder Singh   +4 more
core   +1 more source

Case report: Ichthiosis bullosa of Siemens

, 2005
A case of ichthiosis bullosa of Siemens is described in a twenty-five years old Sudanese female. Review of this condition concerning genetics, molecular biology, histopathology and clinical picture is added. Sudanese Journal of Dermatology Vol.
Kamal Nasr Eldin, Eldin, Kamal Nasr, Mahmoud A Ahmed, Ahmed, Mahmoud A   +3 more
core   +1 more source

Hiperqueratose epidermolítica em gêmeas monozigóticas: relato de caso e revisão de literatura. [PDF]

, 2007
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Sens, Mariana Mazzochi
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