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1 results

  • The management of laryngeal lipoid proteinosis

  • M Ally, A J Kinshuck, A Sandison, G S Sandhu
  • Journal:
    The Journal of Laryngology & Otology / Volume 132 / Issue 10 / October 2018
    Published online by Cambridge University Press:
    13 August 2018, pp. 936-939
    Print publication:
    October 2018
  • 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.