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Hyalinosis cutis et mucosae (or lipoid-proteinosis or Urbach-Wiethe disease) is a genodermatosis (a genetic disease affecting the skin or the mucous membranes) transmitted by autosomal recessive inheritance. It is a metabolic disorder connected to mutations of the gene ECM1. From childhood onwards it affects the skin (causing small yellowish blisters, scarring) as well as leading to ENT symptoms (croaky voice, thick tongue) and there is sometimes neurological involvement. Diagnosis is made by skin biopsy. Genetic testing can be performed and the possibility of antenatal diagnosis can be discussed in a genetic counselling session, which is needed to assess the risks of recurrence in a patient’s descendents. It is a chronic illness that stabilises in adulthood. To date, there is no cure available but there are some medicines that can relieve the symptoms. In France, this disease is managed in gold-standard services dedicated to treating genetic diseases.
Liopoid proteinosis, Urbach-Wiethe disease
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