Urbach-Wiethe disease: a rare pediatric case report

Abstract

Urbach-Wiethe disease also known as lipoid proteinosis (LP) is a rare autosomal recessive Geno dermatosis.¹ It is characterized by the deposition of an amorphous hyaline material in the skin, mucosa and viscera and is also known as cutaneous-mucosal hyalinosis.^2,3 Parental consanguinities is identified in approximately 20% of Urbach-Wiethe disease cases. The classic manifestation due to laryngeal infiltration is a hoarse cry with its onset in infancy. Skin and mucous membrane changes become clinically apparent important consequences.⁴ Rarely, the central nervous system and respiratory tract may be involved resulting in seizures and airway obstruction, respectively. The lifespan is generally normal. We report a case of Urbach-Wiethe disease in a 6-year-old boy with hoarseness of voice who was started on oral acitretin therapy following his diagnosis. Oral acitretin can prove useful in cases of lipoid proteinosis who present with hoarseness of voice or vocal cord palsy. The mutations in the gene encoding extracellular matrix protein 1 (ECM1) have been linked to lipoid proteinosis. Even though no effective treatment is known, acitretin has proved to reverse hoarseness of voice in few reported cases and was started in our case as it was his chief presenting complaint.