Lipoid proteinosis with laryngeal and gingival involvement: A case report

Abstract

Objectives: Lipoid proteinosis, also named as Urbach-Wiethe-Disease or hyalinosis cutis et mucosae, is a rare disease that is characterized by a diffuse deposition of hyaline material and lipids in the mucosa and dermis. This autosomal recessive disorder usually starts during childhood. Hoarseness is often the first sign of the disease. The mucosal changes mainly affect the oropharynx, pharynx and larynx but also manifold skin lesion are commonly seen. Methods: For the first time in 2001 a 22-year old female patient presented in our department with symptoms of increasing hoarseness and feeling of narrowness in her throat. Indirect laryngoscopy showed a mass of approximately 1.5 cm in the left aryepiglottic fold. Vocal cord movement was normal. Physical examination revealed diffuse hypertrophied gingiva beside ruinous teeth. Results: The tumor was completely surgically excised through means of microlaryngoscopy. An exploratory excision was taken from the gingival tissue. Histological examination showed a periodic acid-Schiff (PAS)-positive thickening of the mucosa and a deposition of hyaline material. Extracellular lipids were detected in the hyaline deposits so that the diagnosis of a lipoid proteinois was made. The patient was regularly followed-up in our outpatient department and clinically free of laryngeal disease for nearly 2 years. In June 2003 a small recurrent laryngeal tumor was found that up to now causes no symptoms and no change of the voice. We decided not to operate again until symptoms occur. Conclusion: In this case report the presentation and treatment of this rare entity will be discussed.