Orolaryngeal manifestations of Urbach-Wiethe disease: a case report

Abstract

Lipoid proteinosis, also called Urbach-Wiethe disease, is a rare genodermatosis that presents with diverse signs and symptoms. It causes the accumulation of amorphous hyaline deposits in various organs of the body, including mucous membranes, skin and the brain. The disease starts with hoarseness in childhood and then progresses to involve other systems. We report two cases of the disease, one of a 14-year-old girl who presented with hoarseness. The patient had scarring of the skin over the face and upper limb, and deposits were visible in the oral cavity. Office endoscopy revealed laryngeal deposits. On brain imaging, bilateral mesial temporal lobe calcifications were noted. Biopsy of the lesions was suggestive of lipoid proteinosis. Second, of a 2 years old male child, who presented with a weak cry and skin lesions over the upper limbs and was diagnosed by a genomic analysis. This case series adds to the sparsity of the literature with regard to this medical rarity. The girl was started on oral acitretin, topical triamcinolone and speech therapy while the second child was started on oral acitretin. Thus, our case series highlights the diverse nature of this disease, diagnostic modalities and the importance of multimodal therapy for this disease.