نتایج جستجو برای: congenital ichthyosis
تعداد نتایج: 121782 فیلتر نتایج به سال:
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.
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...
3 It seems as though I had not drunk from the cup of wisdom, but had fallen into it Søren Kierkegaard To Panu
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...
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 ...
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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