نتایج جستجو برای: lipoid proteinosis
تعداد نتایج: 15341 فیلتر نتایج به سال:
Lipoid proteinosis (LP) is a rare autosomal recessive disorder. Classical clinical features include warty skin infiltration, papules on the eyelids, skin scarring, as well as extracutaneous abnormalities such as hoarseness of the voice, epilepsy, and neuropsychiatric abnormalities. A defect in the ECM1 gene is responsible for this disease. A 21-year-old female patient from consanguineous ...
17year old male from West Bengal presented with history of recurrent blisters over sites of trauma and decreased vision and a hoarse voice since childhood. He was born of a non-consanguineous marriage and one of his siblings had similar skin lesions but to a lesser extent. On examination, he had waxy infiltrated papules along the eyelid margins, nose, pinnae and axillae. There were pock like sc...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید