Urbach-Wiethe disease: Hyalinosis cutis et mucosae

Oman J Ophthalmol. 2021 Oct 20;14(3):196-197. doi: 10.4103/ojo.ojo_29_21. eCollection 2021 Sep-Dec.


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.

Keywords: Lipoid proteinosis; Urbach-Wiethe disease; moniliform blepharosis.