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Esophageal Aperistalsis in a Patient with Lipoid Proteinosis

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 woman presented with hoarseness,...

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Detalles Bibliográficos
Autores principales: Afshar, Behrooz, Sadeghi, Anahita, Amani, Mohammad, Ali Asgari, Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Iranian Association of Gastroerterology and Hepatology 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903930/
https://www.ncbi.nlm.nih.gov/pubmed/29682250
http://dx.doi.org/10.15171/mejdd.2017.92
Descripción
Sumario: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 woman presented with hoarseness, dysphagia, eyelid beeding, and acneiform scars on the facial skin and extremities. The patient was diagnosed clinically as having lipoid proteinosis, which was confirmed by laryngeal biopsy. The objective of the present report 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.