Results 51 to 60 of about 316,197 (209)

Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis

Frontiers in Genetics, 2021
Neonatal collodion baby or ichthyosis can pose a diagnostic challenge, and in many cases, only additional organ involvement or the course of the disease will help differentiate between non-syndromic and syndromic forms.
Katalin Komlosi, Olivier Claris, Olivier Claris, Sophie Collardeau-Frachon, Sophie Collardeau-Frachon, Julia Kopp, Ingrid Hausser, Juliette Mazereeuw-Hautier, Nathalie Jonca, Nathalie Jonca, Andreas D. Zimmer, Damien Sanlaville, Damien Sanlaville, Judith Fischer   +13 more
doaj   +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

Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal recessive congenital ichthyosis [PDF]

, 2022
Background 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 ...
Drerup, C., ECKL, KATJA, Fischer, J., Hake, Lisanne, Hausser, I., Hennies, Hans, Komlosi, K., Kopp, J., Metze, D., Oji, V, Süßmuth, Kira, Traupe, H.   +11 more
core   +2 more sources

Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review [PDF]

, 2015
Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article,
Cepeda-Valdés, Rodrigo, Domínguez, Anna, Ferrando, Juan, García-Veigas, Javier, Gómez-Flores, Minerva, Mir-Bonafé, José, Ocampo-Candiani, Jorge, Salas-Alanis, Julio C.   +7 more
core   +2 more sources

Lamellar congenital ichthyosis in practice of dermatologists

Vestnik Dermatologii i Venerologii, 2017
The paper describes 2 cases of congenital lamellar ichthyosis debuting state «collodion baby». Presented features of clinical manifestations: in newborn all skin is covered with a thin dry yellowish-brown film, resembling collodion, also ectropion and ...
S. V. Koshkin, T. V. Chermnykh, A. L. Evseeva, V. V. Ryabova, A. N. Ryabov   +4 more
doaj   +1 more source

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   +4 more sources

Collodion Baby

RGUHS Journal of Medical Sciences, 2012
We report two cases of Collodion baby presented to NICU with parchment like skin which were diagnosed and managed. Initial stabilization management and nursing consideration of the neonate with impaired skin integrity leading to repeated infection is outlined with a note on antenatal ...
Muralidhar L Kulkarni, Sandeep R, Gayathri K, Chaitali Raghoji, Charudutta S, Shitole ., Manohar Shetty, Nagesh B   +7 more
openaire   +2 more sources

Neonatal Skin Disorders: A Review of Selected Dermatologic Abnormalities

, 2000
The skin serves many purposes, acting as a barrier to infection, protecting internal organs, contributing to temperature regulation, storing insulating fats, excreting electrolytes and water, and providing tactile sensory input. This article focuses on a
Banta-Wright, Sandra, Campbell, Juliana
core   +1 more source

Ultrastructural and quantitative analysis of the lipid droplet clustering induced by hepatitis C virus core protein.: HCV-induced lipid droplet clustering [PDF]

, 2010
International audienceHepatitis C virus (HCV) release is linked to the formation of lipid droplet (LD) clusters in the perinuclear area of infected cells, induced by the core protein. We used electron microscopy (EM) to monitor and compare the number and
Blanchard, Emmanuelle, Depla, Marion, Gillet, Ludovic, Hourioux, Christophe, Le Gouge, Amélie, Roingeard, Philippe, Uzbekov, Rustem   +6 more
core   +4 more sources

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1

International Journal of Developmental Neuroscience, Volume 86, Issue 3, May 2026.
A de novo ELOVL1 variant causes syndromic spastic paraparesis with congenital ichthyosis, cerebellar signs and white matter abnormalities. Long‐term clinical and MRI follow‐up showed mild motor and neuroradiological progression with preserved intelligence and subtle cognitive efficiency decline, supporting the hypothesis of a primary neuronal disease ...
Ylenia Vaia, Eleonora Mura, Fabio Bruschi, Stefania Zambrano, Michela Brena, Gianluca Tadini, Filippo Arrigoni, Clara E. Antonello, Carla Uggetti, Cecilia Parazzini, Pierangelo Veggiotti, Davide Tonduti   +11 more
wiley   +1 more source