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The management of laryngeal lipoid proteinosis

  • M Ally (a1), A J Kinshuck (a1), A Sandison (a2) and G S Sandhu (a1)

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.

Copyright

Corresponding author

Author for correspondence: Dr Munira Ally, National Centre for Airway Reconstruction, Charing Cross Hospital, London, UK E-Mail: munira.ally@nhs.net

Footnotes

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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.

Footnotes

References

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1Di Giandomenico, S, Masi, R, Cassandrini, D, El-Hachem, M, DeVito, R, Bruno, C et al. Lipoid proteinosis: case report and review of the literature. Acta Otorhinolaryngol Ital 2006;26:162–7
2Urbach, E, Wiethe, C. Lipoidosis cutis et mucosae. Virchows Arch Pathol Anat Physiol Klin Med 1929;273:285319
3Kumar, P, Sampath, V, Manoharan, K. Lipoid proteinosis in a child with recurrent respiratory infection. EJ Indian Soc Teledermatol 2009;3:611
4Hamada, T, McLean, WH, Ramsay, M, Ashton, GH, Nanda, A, Jenkins, T et al. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet 2002;11:833–40
5Acar, A, Eryilmaz, A, Gocer, C, Akmansu, H, Korkmaz, H. Lipoid proteinosis of larynx: review of four cases. Int J Pediatr Otorhinolaryngol 2004;68:1557–61
6Hofer, PA. Urbach-Wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et mucosae). A review. Acta Dermatol Venereol Suppl (Stockh) 1973;53:152
7Savage, MM, Crockett, DM, McCabe, BF. Lipoid proteinosis of the larynx: a cause of voice change in the infant and young child. Int J Pediatr Otorhinolaryngol 1988;15:33–8
8Gutte, R, Sanghvi, S, Tamhankar, P, Khopkar, U. Lipoid proteinosis: histopathological characterization of early papulovesicular lesions. Indian Dermatol Online J 2012;3:148–9
9Thappa, DM, Gupta, S. Eyelid beading - a useful diagnostic clue for lipoid proteinosis. Indian Pediatr 2001;38:97
10Friedman, L, Mathews, RD, Swanepoel, PD. Radiographic and computed tomographic findings in lipid proteinosis. A case report. S Afr Med J 1984;65:734–5
11Kleinert, R, Cervos-Navarro, J, Kleinert, G, Walter, GF, Steiner, H. Predominantly cerebral manifestation in Urbach-Wiethe's syndrome (lipoid proteinosis cutis et mucosae): a clinical and pathomorphological study. Clin Neuropathol 1987;6:43–5
12Butler, CR, Nouraei, SA, Mace, AD, Khalil, S, Sandhu, SK, Sandhu, GS. Endoscopic airway management of laryngeal sarcoidosis. Arch Otolaryngol Head Neck Surg 2010;136:251–5
13Virk, JS, Tripathi, S, Sandison, A, Sandhu, G. Lipoid proteinosis of the larynx. Ear Nose Throat J 2015;94:E302
14Hamada, T. Lipoid proteinosis. Clin Exp Dermatol 2002;27:624–9
15Caro, I. Lipoid proteinosis. Int J Dermatol 1978;17:388–93
16Kabre, V, Rani, S, Pai, KM, Kamra, S. Lipoid proteinosis: a review with two case reports. Contemp Clin Dent 2015;6:233–6
17Harper, JI, Duguid, KP, Staughton, RC, Moffat, DA. Oropharyngeal and laryngeal lesions in lipoid proteinosis. J Laryngol Otol 1983;97:877–80
18Xu, W, Wang, L, Zhang, L, Han, D, Zhang, L. Otolaryngological manifestations and genetic characteristics of lipoid proteinosis. Ann Otol Rhinol Laryngol 2010;119:767–71
19Chen, Z, Calawerts, W, Zhang, Y, Jiang, J, Xu, W. A case report: hybrid treatment approach to lipoid proteinosis of the larynx. J Voice 2015;31:128.e15–128.e19
20Neel, HB 3rd, McDonald, TJ. Laryngeal sarcoidosis: report of 13 patients. Ann Otol Rhinol Laryngol 1982;91:359–62
21Haar, JG, Chaudhry, AP, Kaplan, HM, Milley, PS. Granulomatous laryngitis of unknown etiology. Laryngoscope 1980;90:1225–9
22Ruff, T, Bellens, EE. Sarcoidosis of the larynx treated with CO2 laser. J Otolaryngol 1985;14:245–7
23Davis, RK, Shapshay, SM, Strong, MS, Hyams, VJ. Transoral partial supraglottic resection using the CO2 laser. Laryngoscope 1983;93:429–32
24Ossoff, RH. Laser safety in otolaryngology--head and neck surgery: anesthetic and educational considerations for laryngeal surgery. Laryngoscope 1989;99(8 Pt 2 suppl 48):126
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The Journal of Laryngology & Otology
  • ISSN: 0022-2151
  • EISSN: 1748-5460
  • URL: /core/journals/journal-of-laryngology-and-otology
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