Urbach-weithe disease (lipoid protinosis): a case report
نویسندگان
چکیده
منابع مشابه
Urbach-Weithe disease.
A 10-year-old girl born of consanguineous marriage presented with hoarseness of voice and difficulty in protruding tongue since last five years. No other family member was affected. Cardiovascular, ophthalmological and neurological examination was normal. Hematological profile was normal, including X-ray skull. Cutaneous examination showed classical multiple beaded papules along the eyelid marg...
متن کاملlipoid proteinosis: a case report urbach & wiethe disease
lipoid proteinosis (lp) is a rare autosomal recessive disease characterized by the deposition of an amorphous hyaline material in the skin, mucosa and viscera. the classic manifestation is onset in infancy with a hoarse cry due to laryngeal infiltration. skin and mucous changes develope, and the disease follows a slowly progressive course. in this case report, a 49 year-old man presented with a...
متن کامل[Lipoid proteinosis (Urbach-Wiethe's Disease)].
A 25-year-old female patient was admitted to our outpatient clinic with postpartum hoarseness. Punch biopsy specimens obtained from the larynx and sublingual region revealed multi-folded squamous epithelium with a hyperkeratosis pattern and amorphous hyaline material aggregation. This aggregation was also remarkable around the vessels. Histochemical examination showed periodic acid-schiff-posit...
متن کاملLipoid proteinosis (Urbach-Wiethe disease).
The aim of this study has been to assess the clinical presentation and biochemical profile of lipoid proteinosis within a defined pedigree. Glycoprotein analysis was compared to normal values in an attempt to define a biochemical phenotype. Six affected family members were identified with variable degrees of disease expression. The most likely mode of inheritance is autosomal recessive due to c...
متن کاملLipoid proteinosis (Urbach-Wiethe syndrome).
A Jewish-Iranian family suffered from lipoid proteinosis. The 8 affected siblings were from consanguineous matings and presented a wide range of phenotypic expressions. Minimal manifestations in 2 heterozygote carriers and the possibility of autosomal recessive inheritance are discussed.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: ScienceRise: Medical Science
سال: 2017
ISSN: 2519-4798,2519-478X
DOI: 10.15587/2519-4798.2017.93603