Results 11 to 20 of about 371 (141)

Diagnostic Pitfalls in Newborns and Babies with Blisters and Erosions [PDF]

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   +4 more sources

Bilateral Systematised Epidermolytic Epidermal Nevus: A case report. [PDF]

Sultan Qaboos Univ Med J, 2021
Verrucous epidermal nevi (VEN) are benign congenital hamartomas consisting of keratinocytes. Histological examination mostly exhibits hyperkeratosis, acanthosis, papillomatosis and, rarely, the features of epidermolytic hyperkeratosis (EHK).
Kerawala SR, Rizvi NU, Tabassum S.
europepmc   +4 more sources

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

Dystrophic epidermolysis bullosa:novel insights into the genotype-phenotype correlation and somatic mosaicism [PDF]

, 2013
Dystrofische epidermolysis bullosa (DEB) is een erfelijke huidaandoening, veroorzaakt door mutaties in het COL7A1 gen. Bij DEB ontstaan reeds door geringe wrijving blaren van de huid en slijmvliezen.
Akker, Peter Christiaan van den
core   +6 more sources

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis [PDF]

, 2016
Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied.
Betz, Regina C., Blume-Peytavi, Ulrike, Bourrat, Emmanuelle, Fischer, Judith, Hotz, Alrun, Jonca, Nathalie, Markus, Susanne, Mazereeuw-Hautier, Juliette, Morice-Picard, Fanny, Oji, Vmzenz, Schlipf, Nina, Schoenbuchner, Ines, Stieler, Karola   +12 more
core   +3 more sources

Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway. [PDF]

Am J Med Genet A, 2019
An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information.
Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, Hadj-Rabia S, Tadini G, Pagnan N, Visinoni AF, Bergendal B, Abbott B, Fete T, Stanford C, Butcher C, D'Souza RN, Sybert VP, Morasso MI.   +17 more
europepmc   +4 more sources

Ichthyosis bullosa of Siemens: Response to topical tazarotene

Indian Journal of Dermatology, Venereology and Leprology, 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. A 14-year-old boy presented with history of recurrent blistering and peeling of skin since the age of 1
S, Rajiv, S V, Rakhesh
openaire   +2 more sources

Ichthyosis Bullosa of Siemens: Report of a Sporadic Case

The Journal of Dermatology, 1995
AbstractWe report a sporadic case of ichthyosis bullosa of Siemens occurring in a Korean boy. In this report, the varied findings of the clinical features in one subject over five years are presented along with an investigation of the ultrastructural alteration.
S C, Kim, W, Hur, J H, Won, S K, Ahn
openaire   +3 more sources

Ichthyosis Bullosa of Siemens–A Disease Involving Keratin 2e

Journal of Investigative Dermatology, 1994
Ichthyosis bullosa of Siemens (IBS) is a congenital bullous ichthyosis without erythroderma. In contrast to bullous congenital ichthyosiform erythroderma (BCIE), there is a relatively mild involvement of the skin and epidermolytic hyperkeratosis (EHK) is restricted to the upper suprabasal layers of the epidermis.
McLean, W H Irwin, Morley, Susan M, Lane, E Birgitte, Eady, Robin A J, Griffiths, W Andrew D, Paige, David G, Harper, John I, Higgins, Caroline, Leigh, Irene M   +8 more
openaire   +2 more sources

Mosaic epidermolytic ichthyosis--case report. [PDF]

An Bras Dermatol, 2013
Mendes MS, Kouzak SS, Aquino TA, Takano GH, Lima Ade P.   +4 more
europepmc   +2 more sources