[Manifestation of Urbach-Wiethe syndrome in the ENT area].
Urbach-Wiethe's syndrome (hyalinosis cutis et mucosae) is a rare genetic defect of probably autosomal recessive origin. The exact nature concerning the pathogenesis of this disorder is still controversial. A characteristic symptom in early childhood might bei hoarseness, later on manifestations with hyalin deposits in the larynx, oral cavity and oropharynx might occur as well as yellowish-white papular deposits in the skin. The overall prognosis of this disease is good, therapeutic intervention might be necessary for functional purposes (narrowing of the laryngeal lumen) and consists of surgical removal of the lesions.
Grevers
G
G
Hals-, Nasen-, Ohrenklinik und Poliklinik, Ludwig-Maximilians-Universität München.
D000293:Adolescent; D000328:Adult; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D005808:Genes, Recessive; D006801:Humans; D006818:Hyalin; D007818:Laryngeal Diseases / Q000235:genetics / Q000473:pathology / Q000601:surgery; D053685:Laser Therapy; D009061:Mouth Mucosa / Q000473:pathology / Q000601:surgery; D010038:Otorhinolaryngologic Diseases / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D013577:Syndrome