Urbach-Wiethe disease
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Urbach-Wiethe disease. This is caused by mutations in the extracellular matrix protein 1 (ECM1) gene. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the extracellular matrix protein 1 (ECM1) gene
- The gene is on chromosome 1
- The transmission is autosomal recessive
- The onset is from birth
Pathology
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Dermatological features
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Dental features
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Neurological features
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Psychiatric features
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Ophthalmological features
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Laryngeal features
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Systemic features
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Brain imaging features: calcifications: locations
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Differential diagnosis
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Synonyms
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References
- Thaddanee R, Khilnani AK, Pandya P, Chaturvedi M. Lipoid proteinosis (Urbach-Wiethe disease) in two siblings. Indian Dermatol Online J 2014; 5(Suppl 2):S95-S97.
- Hamada T, McLean WH, Ramsay M, et al. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet 2002; 11:833-840.
- Parida JR, Misra DP, Agarwal V. Urbach-Wiethe syndrome. BMJ Case Rep 2015; 2015:bcr2015212443.
- Quirici MB, da Rocha AJ. Teaching NeuroImages: lipoid proteinosis (Urbach-Wiethe disease): typical findings in this rare genodermatosis. Neurology 2013; 80:e93.
- Thornton HB, Nel D, Thornton D, van Honk J, Baker GA, Stein DJ. The neuropsychiatry and neuropsychology of lipoid proteinosis. J Neuropsychiatry Clin Neurosci 2008; 20:86-92.
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