Results 31 to 40 of about 72,798 (235)

Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population

International ophtalmology, 2023
To describe the ocular clinical characteristics of a group of Mexican patients with lamellar ichthyosis (LI) arising from TGM1 pathogenic variants. Ophthalmological exploration, pedigree analysis and genetic screening were performed in patients with an ...
Nicole Macriz-Romero, G. R. Vera-Duarte, Jesús Guerrero-Becerril, O. Chacon-Camacho, M. Astiazaran, J. Zenteno, Enrique O. Graue-Hernández   +6 more
semanticscholar   +1 more source

The successful treatment of Lamellar Ichthyosis—a plastic surgeons perspective

Journal of Surgical Case Reports, 2023
Congenital Ichthyosis represents a very rare group of congenital skin disorders characterized by some degree of scaling and thickening of the stratum corneum with skin inflammation.
Miguel Johnson, Caleisia Mowatt, Kimberley G. Scott   +2 more
semanticscholar   +1 more source

Locked-in Scale: Full Manifestation of Lamellar Ichthyosis in an Adult with Serious Physical and Social Impairments

Annals of Dermatology, 2023
Autosomal recessive congenital ichthyosis (ARCI) represents a type of erythroderma, widespread skin scaling at birth, with a reported prevalence of ~1 ...
Dea Kwan Yun, Kyujin Yeom, Uri Shon, M. Choi, B. Park, M. Kim   +5 more
semanticscholar   +1 more source

Lamellar ichthyosis

Dermatology Online Journal, 2005
A 6-year-old African boy with a history of a collodion membrane presented with scale in a generalized distribution and flexural accentuation. Large, brown, polygonal scales were present on the forehead, lateral aspects of the face, and extremities. The nature of the scales and the lack of erythroderma in this patient are consistent with a mild form of ...
Victor, Frank, Schaffer, Julie V
openaire   +4 more sources

CEDNIK: Phenotypic and molecular characterization of an additional patient and review of the literature [PDF]

, 2017
Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In
Coughlin, Carrie C, Fiala, Elise, Hsu, Tina, McKinstry, Robert C, Monaghan, Kristin G, Paciorkowski, Alex R, Shinawi, Marwan   +6 more
core   +3 more sources

Collodion Baby: A Clinical Enigma [PDF]

Indian Journal of Neonatal Medicine and Research, 2019
Collodion baby is a term used for neonates in whom the body surface is covered by thick skin sheets, appearing like a translucent, tight parchment paper.
Sonam Singh, Sumita Mehta, Tarun K Ravi, Anshuja Singla, Ankita Mann   +4 more
doaj   +1 more source

Distinguishing ichthyoses by protein profiling.

PLoS ONE, 2013
To explore the usefulness of protein profiling for characterization of ichthyoses, we here determined the profile of human epidermal stratum corneum by shotgun proteomics.
Robert H Rice, Katie M Bradshaw, Blythe P Durbin-Johnson, David M Rocke, Richard A Eigenheer, Brett S Phinney, Matthias Schmuth, Robert Gruber   +7 more
doaj   +1 more source

Lamellar Ichthyosis with Rickets

Pakistan Journal of Medical Sciences, 2013
Lamellar ichthyosis (LI) is a rare genetic disorder with autosomal recessive inheritance. It is equally seen in both sexes and usually manifests at birth. The child presents as a collodion baby. The erythema is minimal or absent; but when present, it is maximum on the face. The scaling is generalized, accentuated on lower extremities and flexural areas.
Muhammad Nadeem, Raafia Ali, Shahbaz Aman   +2 more
openaire   +3 more sources

The pH of the skin surface and its impact on the barrier function [PDF]

, 2006
The `acid mantle' of the stratum corneum seems to be important for both permeability barrier formation and cutaneous antimicrobial defense. However, the origin of the acidic pH, measurable on the skin surface, remains conjectural.
Abeck D, Barel AO, Blank HI, Bouwstra JA, Braun-Falco O, Chao SC, Dikstein S, Elias P, Elsner P, Epprecht R, Francomano MA, Gfatter R, Gfatter R, Hartmann AA, Heuss E, Keining E, Korting HC, Korting HC, Korting HC, Korting HC, Krien PM, Menon GK, Mucke H, Naissan O, Ohmann H, Rippke F, Runeman B, Schade H, Schirren CG, Schnyder UW, Schreiner V, Seidenari S, Sparavigna A, Talbert GA, Turner RB, Vahlquist A, Wickett RR, Wilhelm KP, Yosipovitch G, Yosipovitch G, Yosipovitch G, Zlotogorski A   +41 more
core   +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