Molecular and neurological characterizations of three Saudi families with lipoid proteinosis
نویسندگان
چکیده
منابع مشابه
Lipoid proteinosis: Report of three cases in one family
Lipoid proteinosis, a rare autosomal recessive disorder, presents in early childhood with hoarseness, skin infiltration and thickening, beaded papules on eyelid margins, and facial acneiform or pock- like scars. Although
متن کاملLipoid Proteinosis
A case of lipoid proteinosis presented with multiple papular lesions on the face and hoarseness of voice from early infancy. Five sibs of the patient were affected and one had died early in infancy, probably because of laryngeal obstruction.
متن کاملLipoid Proteinosis.
The case of a 37-year-old woman with lipoid proteinosis is presented. The first symptoms of hoarseness of voice occurred in puberty. Additional symptoms included beaded eyelid papules, macroglossia with yellowish papules, yellowish deposits of soft palate, popular eruption in the axillary area and tuberous nodules on the elbows.
متن کاملLipoid proteinosis.
Lipoid proteinosis is a rare, autosomal recessive disorder that presents in early infancy with hoarseness, followed by pox-like and acneiform scars, along with infiltration and thickening of the skin and certain mucous membranes. Histological and ultrastructural examination reveals widespread deposition of hyaline-like material and disruption/reduplication of basement membrane around blood vess...
متن کاملLipoid proteinosis presenting with neuropsychiatric manifestations.
Two patients with lipoid proteinosis are reported in whom paranoid symptoms were the presenting feature. Both had a long standing impairment of memory and bilateral medial temporal lobe calcification demonstrated by CT scan. Possible associations between the anatomical site of these lesions and the neuropsychiatric manifestations are discussed.
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2011
ISSN: 1471-2350
DOI: 10.1186/1471-2350-12-31