Lipoid proteinosis of larynx: review of four cases
| Autor: | Aydın Acar, Celil Göçer, Adil Eryilmaz, Hakan Korkmaz, Halit Akmansu |
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| Rok vydání: | 2004 |
| Předmět: |
Larynx
Male Pathology medicine.medical_specialty Adolescent Intercellular deposition Oropharynx Pathogenesis Diagnosis Differential otorhinolaryngologic diseases medicine Humans Child Hyaline Skin Family Health Lung business.industry General Medicine medicine.disease medicine.anatomical_structure Otorhinolaryngology Pediatrics Perinatology and Child Health Etiology Lipoid Proteinosis of Urbach and Wiethe Female Lymph business Infiltration (medical) |
| Zdroj: | International journal of pediatric otorhinolaryngology. 68(12) |
| ISSN: | 0165-5876 |
| Popis: | Lipoid proteinosis is a rare autosomal recessive disorder characterized by intercellular deposition of an amorphous hyaline material. It mainly involves skin and mucosal membranes of upper aerodigestive tract as well as central nervous system, lung, lymph nodes and striated muscles. Etiology and pathogenesis are unknown. Infantile hoarseness is a common presenting feature of the disease due to infiltration of larynx. In two-thirds of the cases, voice changes are present at birth or in early infancy as the first manifestation. We present four patients with lipoid proteinosis involving skin, oropharynx and larynx. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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