Lipoid Proteinosis (Urbach-Wiethe Syndrome)

Lipoid proteinosis (LiP), otherwise known as Urbach-Wiethe syndrome or hyalinosis cutis et mucosae, is a rare autosomal recessive genodermatosis characterized by a faint hoarse voice, warty skin infiltration and scarring, ocular manifestations and less common neuropsychological problems. It is caused by mutations in the extracellular matrix protein 1 gene (ECM1). South Africa carries one of the largest groups of LiP patients in the world. The Namaqualand cohort of 29 LiP patients in South Africa presents with considerable clinical variability. This group of patients could offer a unique opportunity for genotype-phenotype correlation, which to date has failed to show any specific association. The disease commonly manifests in infancy with hoarseness due to pharyngolaryngeal infiltration and various cutaneous manifestations. This chapter describes the clinical aspects, diagnosis, prognosis and management of the disease.