نتایج جستجو برای: congenital ichthyosis

تعداد نتایج: 121782  

Journal: :The Boston Medical and Surgical Journal 1855

2012
Arun Babu

RCDP is a rare autosomal recessively inherited skeletal dysplasia characterized by rhizomelia, ichthyosis, seizures, repeated infections, congenital cataracts and joint contractures. Radiological features include epiphyseal stippling, metaphyseal abnormalities and clefts in vertebral bodies. We report a case of RDCP in a neonate because of its rarity.

Journal: :Cureus 2023

Harlequin ichthyosis is a rare congenital autosomal recessive disorder that causes hyperkeratosis or plate-like keratosis. Hyperkeratosis affects both upper and lower eyelids defective eyelids. Lagophthalmos persistent dry eye will cause desiccation of the cornea, possibly leading to complications such as ectropion, cornea ulceration, corneal perforation, etc. requires regular ocular review pre...

2000
Elina Virolainen Aarno Palotie Angela M. Christiano Leena Pulkkinen Thomas Jefferson Leena Ala-Kokko Søren Kierkegaard

3 It seems as though I had not drunk from the cup of wisdom, but had fallen into it Søren Kierkegaard To Panu

H. Ziaaddini, S. Shamsadini

The inheritance of Olmsted syndrome that is a very rare congenital with transgredient palmoplantar keratoderma is distinguished by the presence of massive hyperkeratosis with fissured skin and periorificial chaps. It usually appears during the early life and mostly in male pateints. Herein we report a case of Olmsted syndrome which is associated with ichthyosis and somatic type of delusion duri...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2015
Yusuke Ohno Shota Nakamichi Aya Ohkuni Nozomi Kamiyama Ayano Naoe Hisashi Tsujimura Urara Yokose Kazumitsu Sugiura Junko Ishikawa Masashi Akiyama Akio Kihara

A skin permeability barrier is essential for terrestrial animals, and its impairment causes several cutaneous disorders such as ichthyosis and atopic dermatitis. Although acylceramide is an important lipid for the skin permeability barrier, details of its production have yet to be determined, leaving the molecular mechanism of skin permeability barrier formation unclear. Here we identified the ...

Journal: :Journal of Investigative Dermatology 2022

Ichthyoses form a heterogeneous group of well-defined inherited skin diseases. However, the comorbidity these cornification disorders needs to be further investigated, as psoriasiform lesions and/or atopic manifestations may observed in many affected individuals. We recruited 64 patients with ichthyoses, 29 psoriasis and 37 dermatitis (AD) patients, assessed disease severity by Ichthyosis Area ...

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