Lipoid proteinosis: report of three siblings

Lipoid proteinosis: report of three siblings

Lipoid proteinosis is a very rare genodermatosis characterized by infiltration of hyaline material into the skin, oral cavity, larynx and internal organs. It usually presents in infancy with hoarseness. Although about 300 cases have been reported in the literature, the occurrence of the disease is r...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Dermatology online journal 2008-11, Vol.14 (11), p.6-6
Hauptverfasser: Nasiri, Soheila, Sarrafi-Rad, Nima, Kavand, Sima, Saeedi, Marjan
Format: Artikel
Sprache:eng
Schlagworte:
Child
Child, Preschool
Consanguinity
Extracellular Matrix Proteins - deficiency
Extracellular Matrix Proteins - genetics
Female
Founder Effect
Germany - ethnology
Hoarseness - etiology
Humans
Lipoid Proteinosis of Urbach and Wiethe - epidemiology
Lipoid Proteinosis of Urbach and Wiethe - genetics
Lipoid Proteinosis of Urbach and Wiethe - pathology
Male
Phenotype
Skin - pathology
South Africa - epidemiology
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Lipoid proteinosis is a very rare genodermatosis characterized by infiltration of hyaline material into the skin, oral cavity, larynx and internal organs. It usually presents in infancy with hoarseness. Although about 300 cases have been reported in the literature, the occurrence of the disease is rare in siblings. In this report we introduce three siblings with this disease.
ISSN:1087-2108
1087-2108
DOI:10.5070/D38M1545SV