نتایج جستجو برای: congenital ichthyosis

تعداد نتایج: 121782  

2017
H. Traupe

In clinical practice, the pediatric dermatologist from time to time encounters patients who have ichthyosis. Patients with this rare disease need a precise diagnosis, good advice on how to manage their skin condition, and adequate genetic counseling. The old days, when ichthyosis was categorized into only 6 major types are long gone.1 A recent consensus conference revised the nomenclature and p...

2017
Amna Malik Ahmed Bait Amer Mohammed Salama Bander Haddad Muhammad T. Alrifai Mohammed Al Balwi William Davies Wafaa Eyaid

BACKGROUND X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes. Here, we show for the first time, that X-linked ichthyosis may be comorbid with an additional psychiatric phenotype (psychosis). CASE PRESENTATION We ...

Journal: :Postgraduate medical journal 1973
A P Shah S S Shah H V Doshi

THE word ichthyosis is derived from the Greek word Ichthys meaning a fish. Patients with ichthyosis exhibit prominent scales occurring more or less diffusely all over the body. Usually the scales are large and centrally adherent with loose edges. Ichthyosis is a disorder of keratinization. Ichthyosis forms a group of genodermatoses transmitted by autosomal dominant or, as recently shown by Well...

Journal: :Acta dermato-venereologica 2015
Isabelle Dreyfus Céline Pauwels Emmanuelle Bourrat Anne-Claire Bursztejn Annabel Maruani Christine Chiaverini Aude Maza Stéphanie Mallet Didier Bessis Sébastien Barbarot Khaled Ezzedine Pierre Vabres Juliette Mazereeuw-Hautier

Moderate to severe ichthyosis is known to have a significant impact on quality of life. A French national survey was performed to describe in more detail how ichthyosis impacts the patients' lives. A questionnaire specifically dedicated to ichthyosis was distributed to patients followed in hospital expert centres or members of the French association of patients. A total of 241 questionnaires we...

Journal: :The Journal of clinical investigation 2002
Nobuo Kuramoto Toshihiro Takizawa Takami Takizawa Masato Matsuki Hiroyuki Morioka John M Robinson Kiyofumi Yamanishi

Transglutaminase 1 (TGase 1) is one of the genes implicated in autosomal recessive congenital ichthyosis. Skin from TGase 1(-/-) mice, which die as neonates, lacks the normal insoluble cornified envelope and has impaired barrier function. Characterization of in situ dye permeability and transepidermal water loss revealed defects in the development of the skin permeability barrier in TGase 1(-/-...

Journal: :The Journal of biological chemistry 1998
E Candi G Melino A Lahm R Ceci A Rossi I G Kim B Ciani P M Steinert

Lamellar ichthyosis is a congenital recessive skin disorder characterized by generalized scaling and hyperkeratosis. It is caused by mutations in the TGM1 gene that encodes the transglutaminase 1 (TGase 1) enzyme, which is critical for the assembly of the cornified cell envelope in terminally differentiating keratinocytes. TGase 1 is a complex enzyme existing as both cytosolic and membrane-boun...

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