نتایج جستجو برای: harlequin ichthyosis
تعداد نتایج: 2442 فیلتر نتایج به سال:
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...
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 ...
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...
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...
Introduction Mutations in the filaggrin ( FLG) gene are known to cause ichthyosis vulgaris. Methods We used whole-genome sequencing (WGS) technology investigate genetic causes of rare and complex inherited diseases including rheumatoid arthritis, ichthyosis, congenital fibrosis extraocular muscles type 1 (CFEOM1) a Chinese family. WGS was performed four topics, identified candidate mutations we...
A 45-year-old woman, with a history of asymmetric facial flushing, was presented to the Endocrinology Unit after pituitary macroadenoma removal. After other pathological entities had been ruled out, she was diagnosed with harlequin syndrome following a lesion of the postganglionic sympathetic fibers during transsphenoidal pituitary macroadenoma surgery. We herein report the first case of harleq...
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