نتایج جستجو برای: congenital ichthyosis
تعداد نتایج: 121782 فیلتر نتایج به سال:
Congenital ichthyoses are rare genodermatoses caused by mutations in genes (more than 60 identified so far) involved the epidermal barrier. Five to 10% of genetic variants not described and their pathogenicity demonstrated, hence resulting “variants uncertain significance” (VUS) before causality is established. This leaves patients formally undiagnosed, precluding prognosis, counselling treatme...
A Danish-Swedish collaboration was established to identify and classify a Danish cohort of patients with epidermolytic ichthyosis, also known as epidermolytic hyperkeratosis. Patients were recruited from 5 dermatology departments in Denmark, and data were obtained using a structured questionnaire and a systematic examination together with photographs, histopathological descriptions and blood sa...
The ichthyoses are a diverse group of disorders with variable clinical presentations. There syndromic and non-syndromic forms multiple associated features. association autosomal recessive congenital icthyosis (ARCI) cataract is rare phenomenon no such case has been reported in recent literature. We hereby report the 5-year-old female patient, product consanguineous marriage, who presented to pe...
LETTER TO JMG Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3–34.13
A utosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous group of inherited disorders of keratinisation, with an estimated incidence of one per 200 000 newborns. In Scandinavia, the prevalence is closer to one in 50 000. 3 By electron microscopy, ARCI can be classified into four subgroups—ichthyosis congenita I–IV—and one so far undefined group. Six loci h...
DEAR EDITOR, Loricrin keratoderma (syn. Camisa syndrome, OMIM 604117) is a rare autosomal dominant genodermatosis characterized by palmoplantar keratoderma and ichthyosis. It is caused by mutations in loricrin, a small basic protein synthesized in the upper granular layer, which becomes a major constituent of the cornified cell envelope. Seven distinct mutations in loricrin have been reported i...
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