Results 111 to 120 of about 6,529 (236)

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation

Frontiers in Pediatrics, 2019
Background: Lamellar ichthyosis is an autosomal recessive type of rare skin disorders characterized with defective epidermis leading hyperkeratosis with brownish-gray scales over the body.
Sami Raja Alallasi, Amal A. Kokandi, Babajan Banagnapali, Babajan Banagnapali, Noor Ahmad Shaik, Noor Ahmad Shaik, Bandar Ali Al-Shehri, Nuha Mohammad Alrayes, Jumana Yousuf Al-Aama, Jumana Yousuf Al-Aama, Musharraf Jelani, Musharraf Jelani   +11 more
doaj   +1 more source

Clinical Spectrum of Congenital Ichthyosis in Pediatric Age Group from a Tertiary Care Center in India

Indian Journal of Paediatric Dermatology
Objective: Ichthyosis is a disorder of cornification, which can be acquired or inherited, and encompasses various forms of generalized scaling and superficial roughness of the skin secondary to impaired skin barrier.
Vibhu Mendiratta, Damini Verma, Himadri, Apaopa Jemima Thekho, Ayushman Bindal   +4 more
doaj   +1 more source

Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis

International Journal of Women's Dermatology
Background:. Autosomal recessive congenital ichthyosis (ARCI) is a rare genodermatosis categorized among nonsyndromic ichthyoses. While ARCI patients often manifest hair abnormalities, their impact on the quality of life remains underreported in the ...
Anissa Zaouak, MD, Wafa Jouini, MD, Ghaith Abdessalem, PhD, Sonia Abdelhak, PhD, Houda Hammami, MD, Cherine Charfeddine, PhD, Samy Fenniche, MD   +6 more
doaj   +1 more source

Hiperqueratose epidermolítica em gêmeas monozigóticas: relato de caso e revisão de literatura. [PDF]

, 2007
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Sens, Mariana Mazzochi
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[Lamellar ichthyosis, uncommon genodermatosis].

Ginekologia polska, 1994
Authors have performed the main types of the ichthyosis, the emphasis has been placed on Lamellar Ichthyosis, because the case of this rare disease occurred in a hospital in Pleszew. The paper contains the case report and detailed description of Lamellar Ichthyosis: clinical signs, prenatal diagnosis and treatment.
J, Rataj, M, Kornacka, A, Mościcka
openaire   +1 more source

Management of harlequin ichthyosis in low-income countries [PDF]

, 2011
Mesia, D, Rossi, G
core   +2 more sources

A Case Report of Ichthyosis Lamellar Syndrome

پزشکی بالینی ابن سینا, 2014
Introduction: Ichthyosis lamellar syndrome is a rare genodermatosis and in most families is inherited as an autosomal recessive trait because of transglutaminase-1 deficiency.
Gholamreza Eshghi, Bita Sharafi, Hasan Faghani   +2 more
doaj  

How Small Polar Molecules Protect Membrane Systems against Osmotic Stress: The Urea−Water−Phospholipid System [PDF]

, 1994
We investigate how a small polar molecule, urea, can act to protect a phospholipid bilayer system against osmotic stress. Osmotic stress can be caused by a dry environment, by freezing, or by exposure to aqueous systems with high osmotic pressure due ...
Costa-Balogh, Fátima O., Wennerström, Hakan, Wadsö, Lars, Sparr, Emma   +3 more
core   +1 more source

Cholesterol 3-Sulfate Interferes with Cornified Envelope Assembly by Diverting Transglutaminase 1 Activity from the Formation of Cross-links and Esters to the Hydrolysis of Glutamine [PDF]

, 2021
Demény, Máté Ágoston, Fésüs, László, Marekov, Lyuben N., Nemes, Zoltán, Steinert, Peter M.   +4 more
core   +1 more source

Quality of life, emollients and hydrating agents. [PDF]

, 2006
peer reviewedSo-called dry skin is a quite common and annoying condition. This skin may affect individuals that are otherwise healthy. It may be particularly severe and unpleasant in cases of ichthyosis, atopic dermatitis or psoriasis.
Haubrechts, C., Pierard, Claudine, Pierard, Gérald, Xhauflaire, Emmanuelle   +3 more
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