Results 21 to 30 of about 5,714 (207)

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

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

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

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

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

Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). [PDF]

, 1991
The Shwachman syndrome comprises exocrine pancreatic insufficiency, growth retardation, and bone marrow hypoplasia resulting in neutropenia. Clinical, morphological, and ultrastructural studies, as well as hair analysis, were performed in a patient with ...
Goeteyn, M. (M.), Groot, R. (Ronald) de, Oranje, A.P. (Arnold), Suijlekom-Smit, L.W.A. (Lisette) van, Vuzevski, V.D. (Vojislav)   +4 more
core   +1 more source

Oral Manifestation of Autosomal Recessive Congenital Ichthyosis in a 2-Year-Old Patient

Case Reports in Dentistry, 2014
Ichthyosis is a heterogeneous family of hereditary keratinisation disorders mostly characterized by variable erythema of the whole body and different scaling patterns.
Kavitha Ramar, Sankar Annamalai, V. P. Hariharavel, R. Aravindhan, C. Ganesh, K. Ieshwaryah   +5 more
doaj   +1 more source

Congenital bilateral ectropion in lamellar ichthyosis

Oman Journal of Ophthalmology, 2011
Chandana Chakraborti, Partha Tripathi, Gautam Bandopadhyay, Dayal Bandhu Mazumder   +3 more
doaj   +3 more sources

Lamellar Icthyosis – A case Report [PDF]

Journal of Clinical and Diagnostic Research, 2014
Autosomal recessive congenital ichthyosis is a heterogenous group of disorders that are present at birth with generalized involvement of skin and lack of other organ systems.
Pranitha V, Thimma Reddy B.V, Daneswari V, Sudhanwa N Deshmukh   +3 more
doaj   +1 more source