Lipoid proteinosis (Urbach-Wiethe disease). Sequencing of the ECM1 gene by Sanger [1 gene]

Lipoid proteinosis is a disease characterized by deposits of hyaline material in various tissues, causing a hoarse voice from early childhood, hemorrhagic vesicles and scabs in the mouth, face, and extremities, and warty and keratotic skin lesions on the extensor surfaces (especially the elbows) and moniliform blepharitis (multiple bead-shaped papules along the margins of the eyelids and inner canthus). Extracutaneous manifestations may include epilepsy, neuropsychiatric disorders, cerebral hemorrhage, and multiple asymptomatic yellowish nodules throughout the gastrointestinal tract. Typically, the course of the disease is chronic and fluctuating.

Unknown

Recommended service when there is a clinical diagnosis of lipoid proteinosis.

The benefits of a genetic diagnosis in this context are aimed at confirming the diagnosis and family genetic counseling.

Service indicated when the clinical diagnosis of lipoid proteinosis is considered certain. If the differential diagnosis is in progress, it is advisable to request an exome targeted at this gene to expand the analysis to other candidate genes if a first negative report has been obtained.

Nearly 100% of the variants described to date in the ECM1 gene are detectable using Sanger technology.