Urbach-Wiethe syndrome

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Classification according to ICD-10
E78.8 Other disorders of lipoprotein metabolism
ICD-10 online (WHO version 2019)

The Urbach-Wiethe disease (also Lipoidproteinose or Hyalinosis cutis et mucosae ) is a very rare (autosomal recessive) inherited disease . It is associated with skin changes, changes in the mucous membrane ( hoarseness ) and calcifications of the amygdala (part of the limbic system ).

Symptoms and ailments

The failure of the structures of the amygdala leads to restrictions in emotional life and social behavior, as well as memory disorders . In particular, those affected have difficulty understanding the emotional meaning of facial expressions.

causes

The disease is genetic . It often occurs in families and is not infrequently associated with changes on the long arm of chromosome 1 (1q21), namely mutations of the extracellular matrix protein 1 gene ( ECM1 ).

Most of the around 100 people affected worldwide live in South Africa. The genetic change damages a sub-region of the amygdala, the basolateral amygdala. Such specific brain damage is unique in brain research.

Consequences and complications

The lack of integration of emotional signals disturbs social interactions and difficult discussions and social behavior , in particular the trust and mistrust education. The consequences can be exclusion , social discrimination , withdrawal into the private sphere , failure in school and work , difficulties in the partnership , isolation and loneliness .

Demarcation

The Urbach-Wiethe syndrome can possibly be misunderstood as a lack of social competence , unwillingness, stupidity or malevolence. It's easy to confuse with autism , emotional blindness ( alexithymia ), or intellectual disability .

treatment

There is no known causal therapy beyond symptomatic treatment.

history

The disease was first described in 1929 by the two Austrian-US-American and Austrian doctors of the same name, the dermatologist Erich Urbach (1893-1946) and the ENT doctor Camillo Wiethe (1889-1949).

See also

Individual evidence

  1. ^ RA Emsley, L. Paster: Lipoid proteinosis presenting with neuropsychiatric manifestations. In: J Neurol Neurosurg Psychiatry. 48, 1985, pp. 1290-1292. PMID 4087005 .
  2. ↑ HJ Markowitsch et al: The amygdala's contribution to memory-a study on two patients with Urbach-Wiethe disease. In: Neuroreport. 5, 1994, pp. 1349-1352. PMID 7919196 .
  3. ^ M. Siebert et al.: Amygdala, affect and cognition: evidence from 10 patients with Urbach-Wiethe disease. In: Brain. 126, 2003, pp. 2627-2637. PMID 12937075 .
  4. ↑ T. Hamada et al.: Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). In: Hum Mol Genet . 11, 2002, pp. 833-840. PMID 11929856 .
  5. ↑ Lisa A. Rosenberger, Jack van Honk et al. (2019). The human basolateral amygdala is indispensable for social experiential learning . Current Biology . DOI: 10.1016 / j.cub.2019.08.078
  6. ↑ E. Urbach, C. Wiethe: Lipoidosis cutis et mucosae. In: Virchows Arch path Anat physiol klin Med. 273, 1929, pp. 285-319.

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