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The management of laryngeal lipoid proteinosis

Published online by Cambridge University Press:  13 August 2018

M Ally ,
A J Kinshuck ,
A Sandison  and
G S Sandhu
M Ally*
Affiliation:
National Centre for Airway Reconstruction, Charing Cross Hospital, Imperial College Healthcare NHS Trust, London, UK
A J Kinshuck
Affiliation:
National Centre for Airway Reconstruction, Charing Cross Hospital, Imperial College Healthcare NHS Trust, London, UK
A Sandison
Affiliation:
Department of Histopathology, Guy's and St Thomas’ NHS Foundation Trust, London, UK
G S Sandhu
Affiliation:
National Centre for Airway Reconstruction, Charing Cross Hospital, Imperial College Healthcare NHS Trust, London, UK
*
Author for correspondence: Dr Munira Ally, National Centre for Airway Reconstruction, Charing Cross Hospital, London, UK E-Mail: munira.ally@nhs.net
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Abstract

Background

Lipoid proteinosis is a rare autosomal recessive disorder caused by mutations in the extracellular matrix protein 1 gene. It is characterised by deposition of hyaline material in the skin and mucous membranes. This paper describes the management of two cases with laryngopharyngeal disease.

Methods

Two patients with a biopsy diagnosis of lipoid proteinosis were identified from the surgical pathology archive covering the period 2004–2016. Their notes were reviewed.

Results

An adult male and an adult female were identified. Both had dysphonia and laryngopharyngeal lesions. The patients underwent interval laser microlaryngoscopy to debulk disease but minimise mucosal injury and scarring, using a ‘pepper pot’ technique. Both had adequate symptom control.

Conclusion

Lipoid proteinosis is a rare genetic condition, which typically presents in infancy with dysphonia and subsequent skin involvement. Two cases are presented to demonstrate that laryngotracheal symptoms can be controlled with interval laser debulking and the ‘pepper pot’ technique without causing stenosis.

Keywords

Lipoid Proteinosis Of Urbach And WietheDysphoniaLarynxVoiceCarbon DioxideHoarseness
Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 132 , Issue 10 , October 2018 , pp. 936 - 939
Copyright
Copyright © JLO (1984) Limited, 2018 

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Footnotes

Dr M Ally takes responsibility for the integrity of the content of the paper

Presented orally at the Proceedings of the 152nd Semon Club, 14 November 2016, London, UK.

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