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Urbach-Wieth disease (lipoid proteinosis, hyalinosis cutis et mucosae)
Etiology:
- suggested to be a lysosomal storage disease
Epidemiology:
1) rare
2) 25% of cases in South Africa
Pathology:
1) congenital bilateral calcification of the medial temporal lobe including the amygdala
2) filamentous-like material in skin lesions
3) cytoplasmic vacuolization of dermal fibroblasts
4) generalized thickening of skin, mucosae & certain viscera
5) widespread deposition of hyaline material
6) disruption/reduplication of basement membrane
Genetics:
1) autosomal recessive
2) associated with defects in ECM1 gene
Clinical manifestations:
1) early hoarseness
2) unusual skin eruptions
3) moniliform blepharosis (upper & lower eyelids)
4) impaired recall of emotionally-charged material
5) seizures
6) rage attacks
Radiology:
- neuroimaging (CT or MRI) to show bilateral calcification of the medial temporal lobes
Differential diagnosis:
- erythrocytic protoporphyria
Related
amygdala
General
genetic syndrome (multisystem disorder)
metabolic disease
Database Correlations
OMIM 247100
References
OMIM :accession 247100