Lipoid proteinosis
Autosomal recessive
An ECM1 disorder with a hoarse voice from infancy, beaded papules on the eyelids, skin scarring, and sometimes calcification in the brain that can cause seizures.
What a diagnosis changes
Diagnosis can explain long-standing hoarseness and prompts assessment for seizures.
Genes analysed
Also known as
hyalinosis cutis et mucosae; lipid proteinosis; lipoproteinosis; Urbach Wiethe disease
