Related Experiment Video

Updated: Jun 13, 2026

Minimally Invasive Murine Laryngoscopy for Close-Up Imaging of Laryngeal Motion During Breathing and Swallowing
07:45

Minimally Invasive Murine Laryngoscopy for Close-Up Imaging of Laryngeal Motion During Breathing and Swallowing

Published on: December 1, 2023

[Pressure-related dysphonia, recurring pneumonia and supraglottic tumor]

K Jahn1, H-J Straehler-Pohl, H-P Fischer

  • 1Abteilung für Phoniatrie und Pädaudiologie der Universitäts-HNO-Klinik Bonn, Sigmund-Freud-Strasse 25, 53105 Bonn. Katrin.Jahn@ukb.uni-bonn.de

HNO
|May 14, 2010
PubMed

Insights

Urbach-Wiethe syndrome, a rare genetic disorder, can cause hoarseness and dysphonia in adults, not just children. Early and regular interdisciplinary check-ups are vital for managing this disease.

Area of Science:

  • Genetics
  • Dermatology
  • Otolaryngology

Background:

  • Urbach-Wiethe syndrome (hyalinosis cutis et mucosae) is an autosomal-recessive disorder.
  • Key symptoms include skin lesions, dyspnea, maldigestion, and hoarseness, particularly in children.

Observation:

  • This case report highlights hoarseness and dysphonia in an adult patient.
  • Glycoprotein assimilation in the supraglottic area was identified as a cause of dysphonia.

Findings:

  • Hoarseness in Urbach-Wiethe syndrome can manifest later in life, beyond childhood.
  • Supraglottic glycoprotein deposition can lead to voice impairment.

Implications:

  • The findings expand the understanding of Urbach-Wiethe syndrome's clinical presentation.
  • Regular, interdisciplinary evaluations are crucial for comprehensive patient management.

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