The management of laryngeal lipoid proteinosis
Autor: | A J Kinshuck, Guri Sandhu, M Ally, Ann Sandison |
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Rok vydání: | 2018 |
Předmět: |
Adult
Male Larynx Hyalin medicine.medical_specialty Disease Diagnosis Differential Surgical pathology 03 medical and health sciences Extracellular matrix protein 1 0302 clinical medicine Biopsy Humans Medicine 030223 otorhinolaryngology education Hyaline education.field_of_study Hoarseness Mucous Membrane Laryngoscopy medicine.diagnostic_test business.industry 030206 dentistry General Medicine Middle Aged Dysphonia medicine.disease Debulking Dermatology Hypopharynx Stenosis Treatment Outcome medicine.anatomical_structure Otorhinolaryngology Lipoid Proteinosis of Urbach and Wiethe Female Laser Therapy business |
Zdroj: | The Journal of Laryngology & Otology. 132:936-939 |
ISSN: | 1748-5460 0022-2151 |
Popis: | BackgroundLipoid 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.MethodsTwo patients with a biopsy diagnosis of lipoid proteinosis were identified from the surgical pathology archive covering the period 2004–2016. Their notes were reviewed.ResultsAn 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.ConclusionLipoid 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. |
Databáze: | OpenAIRE |
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