Late presentation of laryngeal lipoid proteinosis: a case report and review of the literature

Author:

Alrusayyis Danah F1ORCID,Alaraifi Abdulaziz K2,Alhumaid Salwa2,Khan Abdul Latif3,Elkrim Mohammed2

Affiliation:

1. College of Medicine, Imam Abdulrahman Bin Faisal University , Dammam , Saudi Arabia

2. Division of Otolaryngology-Head and Neck Surgery, Department of Surgery, King Abdulaziz Medical City, Ministry of National Guard Health Affairs , Riyadh , Saudi Arabia

3. Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs , Riyadh , Saudi Arabia

Abstract

Abstract Lipoid proteinosis (LP) is a rare autosomal-recessive disease characterized by the deposition of hyaline material infiltrating multiple body organs, including the larynx. The possible clinical presentations are wide-ranging. Laryngeal involvement results in dysphonia that is noted at birth or infantile years. The diagnosis is based on histological findings, and the management options vary depending on the severity of the symptoms. In this paper, we report an unusual case of LP with laryngeal involvement in an adult patient, along with a review of current literature.

Publisher

Oxford University Press (OUP)

Subject

Surgery

Reference14 articles.

1. A rare cause of hoarseness of voice: lipoid proteinosis of the larynx;Swain;Int J Phonosurgery Laryngol

2. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1);Hamada;Hum Mol Genet,2002

3. The management of laryngeal lipoid proteinosis;Ally;J Laryngol Otol,2018

4. Lipoid proteinosis: a rare cause of hoarseness;Loos;J Voice Mosby,2019

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