Urbach-Wiethe disease: experience at a tertiary care hospital in Abbottabad, Pakistan.
نویسندگان
چکیده
BACKGROUND Urbache-Wiethe disease (Lipoid Proteinosis) is a rare autosomal recessive disorder characterized by the deposition of an eosinophilic hyaline-like material in the skin, larynx, mucous membranes, brain, and other internal organs. METHODS A survey of one year duration was carried out prospectively at the Department of Dermatology, Ayub Teaching Hospital Abbottabad to document cases of lipoid proteinosis. Cases were selected from the outpatients department on the basis of clinical presentation and were subjected to detailed examination and investigations after admission. RESULTS Five cases were diagnosed as suffering from Lipoid Proteinosis over the study period. All had typical features of hoarseness, skin lesions and tongue involvement. All were born of consanguineous parents. Three (60.0%) cases also gave a history of involvement of other family members, particularly cousins. CONCLUSION This rare disease occurs in Hazara Division of North West Frontier Province of Pakistan with an as yet undetermined frequency and clinical suspicion is warranted to diagnose cases with the typical presentation.
منابع مشابه
Lipoid proteninosis:case report
URBACH-WIETHE is a very rare autosomally recessive disorder characterized by infiltration of hyaline material into skin,oral cavity,larynx,and internal organs.in this report we persent a case of a 22 year old woman with small scars on her face,hoarseness,firm tongue and beaded papules along the margins of eyelids,who was referred to the deparment of ophthalmology of Kerman university No3: hospi...
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ورودعنوان ژورنال:
- Journal of Ayub Medical College, Abbottabad : JAMC
دوره 20 4 شماره
صفحات -
تاریخ انتشار 2008