Esophageal Aperistalsis in a Patient with Lipoid Proteinosis
| Autor: | Mohammad Amani, Ali Ali Asgari, Anahita Sadeghi, Behrooz Afshar |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
medicine.medical_specialty
Scars lcsh:Medicine Case Report 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Hyaline material medicine Hyaline Eyelid beading Hepatology Autosomal recessive inheritance business.industry lcsh:R Gastroenterology Rare entity Mucous membrane Laryngeal Biopsy Dysphagia Acneiform scars Dermatology medicine.anatomical_structure 030220 oncology & carcinogenesis Hoarseness of voice Eyelid medicine.symptom business |
| Zdroj: | Middle East Journal of Digestive Diseases, Vol 10, Iss 1, Pp 55-58 (2018) Middle East Journal of Digestive Diseases |
| ISSN: | 2008-5249 2008-5230 |
| Popis: | Lipoid proteinosis is a rare disorder with autosomal recessive inheritance, characterized by progressive deposition of hyaline material in the skin, mucous membrane, and different organs of the body, resulting in a multitude of clinical manifestations. A 34-year-old female presented with hoarseness of voice, dysphagia, eyelid beading, and acneiform scars on the facial skin and extremities. The patient was diagnosed clinically as a case of Lipoid proteinosis, which was confirmed by laryngeal biopsy. The objective of the present work is to describe this rare entity. This case report also illustrates that Lipoid proteinosis may show protean clinical features and yet may remain undiagnosed for many years. |
| Databáze: | OpenAIRE |
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