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Urbach-Wiethe disease: Hyalinosis cutis et mucosae
Prabrisha Banerjee1, Bipasha Mukherjee1
1Orbit, Oculoplasty, Reconstructive and Aesthetic Services, Sankara Nethralaya, Medical Research Foundation, Chennai, Tamil Nadu, India.
Abstract:
Urbach-Wiethe Disease is an uncommon entity with autosomal recessive inheritance. We describe the clinical and histopathological findings of lipoid proteinosis in this clinical image. Cicatricial alopecia, atrophic scar on face, moniliform blepharosis and alopecia are the characteristic features of this disease entity. Hoarseness of voice and seizure can also be seen in these patients. Skin biopsy confirms the diagnosis. Multidisciplinary involvement is recommended for the management of these cases.
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