Results 51 to 60 of about 528,814 (282)

Perinatal-lethal Gaucher disease can be the underlying cause of congenital ichthyosis

Journal of Pediatric and Neonatal Individualized Medicine, 2019
In this paper, we present an infant born with congenital ichthyosis who was also diagnosed with a perinatal-lethal form of type 2 Gaucher disease (GD).
Kubra Baskin, Eser Aynaci, Ozge Onay Surmeli, M. Munevver Bas   +3 more
doaj   +1 more source

Clinical observation of familial cases of congenital ichthyosis

Педиатрическая фармакология, 2023
Background. Ichthyosis is a group of rare genetic diseases with a wide phenotypic spectrum, characterized most often by generalized hyperkeratinization and desquamation with variable erythema [1].
Nailya R. Pimenova, Elena I. Kashirskaya, Anastasiya V. Alekseeva   +2 more
doaj   +1 more source

Spontaneous subconjunctival abscess in congenital lamellar ichthyosis

Indian Journal of Ophthalmology, 2018
Congenital lamellar ichthyosis is an autosomal recessive, heterogeneous disorder presenting at birth with generalized skin involvement. The most common ophthalmic manifestation noted is bilateral ectropion of the lower eyelids.
Shivanand C Bubanale, Linda Maria Genoveva De Piedade Sequeira, Bhagyajyothi B Kurbet   +2 more
doaj   +1 more source

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

Quality of life in Swedish children with congenital ichthyosis

Dermatology Reports, 2010
Congenital ichthyosis encompasses a large group of keratinizing disorders with widespread scaling and a variable degree of erythema. Little is known about the quality of life in children with congenital ichthyosis and the impact of the disease on their ...
Agneta Gånemo
doaj   +1 more source

I Jornada de expertos en ictiosis [PDF]

, 2013
On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for ...
A. Hernández-Martín, A. Torrelo-Fernández, A. Vega, F. Casco, F. Larcher, H. Traupe, I. Arroyo, J.L. Pedreira-Massa, P. de Unamuno-Pérez, R. de Lucas-Laguna, R. González-Sarmiento   +10 more
core   +3 more sources

Prevalence of inherited ichthyosis in France: a study using capture-recapture method [PDF]

, 2014
International audienceBACKGROUND:Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. Epidemiology remains poorly described.
Barbarot, Sebastien, Chiaverini, Christine, Chouquet, Cécile, Dreyfus, Isabelle, Dupuis, Jérôme, Ezzedine, Khaled, Henner, Sophie, Mallet, Stephanie, Martin, Ludovic, Maza, Aude, Mazereeuw-Hautier, Juliette, Pascal, Sandrine, Rodriguez, Lauriane, Vabres, Pierre   +13 more
core   +3 more sources

Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal‐recessive congenital ichthyosis

Journal of the European Academy of Dermatology and Venereology, 2021
Autosomal‐recessive congenital ichthyosis (ARCI) is a heterogeneous group of ichthyoses presenting at birth. Self‐improving congenital ichthyosis (SICI) is a subtype of ARCI and is diagnosed when skin condition improves remarkably (within years) after ...
L. Hake, K. Süßmuth, K. Komlosi, J. Kopp, C. Drerup, D. Metze, H. Traupe, I. Hausser, K. Eckl, H. Hennies, J. Fischer, V. Oji   +11 more
semanticscholar   +1 more source

Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis [PDF]

, 2012
Lamellar Ichthyosis (LI) is a form of congenital ichthyosis that is caused by mutations in the TGM1 gene that encodes for the transglutaminase 1 (TG1) enzyme. Functional inactivation of TG1 could be due to mutations, deletion or insertions. In this study,
Annicchiarico-Petruzzelli, M, Bui, L, Campione, E, Candi, E, Codispoti, A, Didona, B, Melino, G, Palombo, R, Serra, V, Sette, M, Talamonti, E, Terrinoni, A, Zambruno, G   +12 more
core   +1 more source

High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany

Journal of the European Academy of Dermatology and Venereology, 2021
Non‐syndromic congenital ichthyosis describes a heterogeneous group of hereditary skin disorders associated with erythroderma and scaling at birth.
L. Frommherz, A. Krause, J. Kopp, A. Hotz, S. Hübner, A. Reimer-Taschenbrecker, F. Casetti, B. Zirn, J. Fischer, C. Has   +9 more
semanticscholar   +1 more source