Open AccessLipoid Proteinosis: Case Report of Otolaryngological Findings
Author(s) -
Dias Priscila S.,
Braga Frederico B.,
Sabaneeff Lidia,
Milward Marina,
Leite Jorge B.,
Mosciaro Manuela S.,
Melo MariaHelena
Publication year - 2011
Publication title -
otolaryngology–head and neck surgery
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.232
H-Index - 121
eISSN - 1097-6817
pISSN - 0194-5998
DOI - 10.1177/0194599811415823a58
Subject(s) - medicine , macroglossia , dermatology , nose , larynx , epiglottis , rare disease , tongue , otorhinolaryngology , biopsy , oral mucosa , pathology , surgery , disease
Objective Lipoid proteinosis, or Urbach‐Wiethe disease, was first described in 1929. It is a rare recessive genetic disorder that causes a buildup of hyaline material in the skin and mucosa. The objective of this paper is to report a case of lipoid proteinosis, or Urbach Wiethe disease, emphasizing its otolaryngological manifestations. Method A 38‐year‐old patient presented since young childhood with skin lesions on buttocks, face, arms, and legs and a weak cry. Currently, the patient has hoarseness that keeps her from talking on the telephone, anodontia, pale and stiff oral mucosa (specially frenulum and tongue), and narrowed nasal vestibules. Results The clinical investigation included a videolaryngoscopy that showed an infiltration of the arytenoids and epiglottis. The vocal cords had normal mobility and coaptation. In order to confirm the diagnosis, a skin biopsy was performed, and the deposition of hyaline positive PAS material was found in the papillar derme. This rare disease does not have a specific treatment. The patient was treated with topical and systemic corticosteroids and also phonotherapy, obtaining some improvement. She was not interested in any surgical option. She is in clinical follow‐up in Gaffrée Guinle University Hospital. Conclusion Lipoid proteinosis is a rare disease, with approximately 300 reported cases, that has a chronic and benign course, still without a specific treatment. Because of the variety of symptoms in the oral cavity, larynx, and nose, it is important that the otolaryngologist is familiar with that affection.