URBACH-WIETHE DISEASE: EXPERIENCE AT A TERTIARY CARE HOSPITAL IN ABBOTTABAD, PAKISTAN

Javeria Javeria, Sami ullah, Marium Marium, Neelo far, Fatima Samad, Ghulam Nabi, Saadia Ghazal

Abstract


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.
Key Words: Lipoid proteinosis, Urbach-Wiethe disease, Hyalinosis cutis et mucosae, Hoarseness

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