Results 21 to 30 of about 450 (144)

Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1

Journal of Dermatological Science, 2013
open
Jae Yong Sung, Se‐Woong Oh, Song Ee Kim, Soo‐Chan Kim   +3 more
semanticscholar   +5 more sources

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

Chinese Journal of Dermatology, 2023
Yuan Mengsha, Ling Liu
semanticscholar   +3 more sources

A Sporadic Case of Ichthyosis Bullosa of Siemens

Annals of Dermatology, 1997
Gwang Seong Choi, Ji Sub Song, Eun‐So Lee, Won Hyoung Kang, Sungnack Lee   +4 more
semanticscholar   +4 more sources

Epidermolytic Hyperkeratosis--case report. [PDF]

An Bras Dermatol, 2015
: Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girlwho presented an hypertrophic verrucous plaques in the neck, under arm ...
Hayashida MT, Mitsui GL, Reis NI, Fantinato G, Jordão Neto D, Mercante AM.   +5 more
europepmc   +3 more sources

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

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 : a distinct type of epidermolytic hyperkeratosis [PDF]

, 1996
Contains fulltext : 24062___.PDF (Publisher’s version ) (Open Access)
Ursula Lenzner, R Happle, Hannie Kremer, H Mensing, D. Reinel, P. L. Steijlen, R. Ulrich   +6 more
openalex   +1 more source

Superficial epidermolytic ichthyosis in a neonate

Indian Journal of Paediatric Dermatology, 2023
Superficial epidermolytic ichthyosis (SEI) is a rare blistering disorder, manifesting as blisters and hyperkeratosis. It has characteristic histopathological features, hyperkeratosis, vacuolar degeneration of the granular layer, and subcorneal split ...
Pandharinath Keshav Khade, Sunanda Arun Mahajan, Ketki Shekhar Bhoite   +2 more
doaj   +1 more source

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

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