URBACH-WIETHE DISEASE: EXPERIENCE AT A TERTIARY CARE HOSPITAL IN ABBOTTABAD, PAKISTAN
AbstractBackground: Urbache-Wiethe disease (Lipoid Proteinosis) is a rare autosomal recessive disordercharacterized by the deposition of an eosinophilic hyaline-like material in the skin, larynx, mucousmembranes, brain, and other internal organs. Methods: A survey of one year duration was carriedout prospectively at the Department of Dermatology, Ayub Teaching Hospital Abbottabad todocument cases of lipoid proteinosis. Cases were selected from the outpatients department on thebasis of clinical presentation and were subjected to detailed examination and investigations afteradmission. Results: Five cases were diagnosed as suffering from Lipoid Proteinosis over the studyperiod. All had typical features of hoarseness, skin lesions and tongue involvement. All were bornof consanguineous parents. Three (60.0%) cases also gave a history of involvement of other familymembers, particularly cousins. Conclusion: This rare disease occurs in Hazara Division of NorthWest Frontier Province of Pakistan with an as yet undetermined frequency and clinical suspicionis warranted to diagnose cases with the typical presentation.Key Words: Lipoid proteinosis, Urbach-Wiethe disease, Hyalinosis cutis et mucosae, Hoarseness
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