نتایج جستجو برای: ichthyosis fetal

تعداد نتایج: 89332  

2017
Hui Shi Xiao-feng Qi Tao-tao Liu Qian Hao Xiao-hong Li Ling-ling Liang Yi-miao Wang Zhi-hua Cui

BACKGROUND Pre-Descemet corneal dystrophy (PDCD) is characterized by the presence of numerous, tiny, polymorphic opacities immediately anterior to Descemet membrane, which is a rare form of corneal stromal dystrophy and hard to be diagnosed. In vivo confocal microscopy (IVCM) is a useful tool to examine the minimal lesions of the cornea at the cellular level. In this article, we report a rare c...

Journal: :Proceedings of the Royal Society of Medicine 1962

Journal: :The Journal of Dermatology 2016

Journal: :Saudi Journal of Ophthalmology 2016

Journal: :Journal of the Portuguese Society of Dermatology and Venereology 2019

2017
Anina Bauer Dominik P Waluk Arnaud Galichet Katrin Timm Vidhya Jagannathan Beyza S Sayar Dominique J Wiener Elisabeth Dietschi Eliane J Müller Petra Roosje Monika M Welle Tosso Leeb

Ichthyoses are a heterogeneous group of inherited cornification disorders characterized by generalized dry skin, scaling and/or hyperkeratosis. Ichthyosis vulgaris is the most common form of ichthyosis in humans and caused by genetic variants in the FLG gene encoding filaggrin. Filaggrin is a key player in the formation of the stratum corneum, the uppermost layer of the epidermis and therefore ...

2014
A Vahlquist S Blockhuys P Steijlen K van Rossem B Didona D Blanco H Traupe

BACKGROUND Oral liarozole, a retinoic acid metabolism-blocking agent, may be an alternative to systemic retinoid therapy in patients with lamellar ichthyosis. OBJECTIVE To demonstrate the efficacy and safety of once-daily oral liarozole in the treatment of moderate/severe lamellar ichthyosis. METHODS This was a double-blind, multinational, parallel phase II/III trial (NCT00282724). Patients...

1936
B. M. Kothari

A case of advanced ichthyosis was recently admitted into the Windham Hospital. The family history as far as it could be elicited made it apparent that it was a disease of the males in the family transmitted through the females, the latter being immune. The patient's elder brother was suffering from the same disease, while his sisters were all free; his father did not suffer from it, nor his gra...

2013
Hélène Dufresne Smail Hadj-Rabia Cécile Méni Vincent Sibaud Christine Bodemer Charles Taïeb

BACKGROUND The concept of individual burden, associated with disease, has been introduced recently to determine the "disability" caused by the pathology in the broadest sense of the word (psychological, social, economic, physical). Inherited ichthyosis belong to a large heterogeneous group of Mendelian Disorders of Cornification. Skin symptoms have a major impact on patients' Quality of Life bu...

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