Urbach-Wieth disease (lipoid proteinosis, hyalinosis cutis et mucosae)

Etiology

• suggested to be a lysosomal storage disease

Epidemiology

• rare
• 25% of cases in South Africa

Pathology

• congenital bilateral calcification of the medial temporal lobe including the amygdala
• filamentous-like material in skin lesions
• cytoplasmic vacuolization of dermal fibroblasts
• generalized thickening of skin, mucosae & certain viscera
• widespread deposition of hyaline material
• disruption/reduplication of basement membrane

Genetics

• autosomal recessive
• associated with defects in ECM1 gene

Clinical manifestations

• early hoarseness
• unusual skin eruptions
• moniliform blepharosis (upper & lower eyelids)
• impaired recall of emotionally-charged material
• seizures
• rage attacks

Radiology

• neuroimaging (CT or MRI) to show bilateral calcification of the medial temporal lobes

Differential diagnosis

• erythrocytic protoporphyria

More general terms

• genetic syndrome (multisystem disorder)
• metabolic disease

Additional terms

• amygdala

Database

• OMIM: https://mirror.omim.org/entry/247100