Hyalinosis cutis et mucosae

Translated title of the contribution: Hyalinosis cutis et mucosae

Bernadette Vago, Ingrid Haußer, Hans Christian Hennies, Alexander Enk, Uta Jappe

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Hyalinosis cutis et mucosae is a rare autosomal recessive disorder which is characterized by deposition of hyaline material around the basement membrane of the skin and mucous membranes. Typical clinical symptoms are hoarseness, infiltration of the mucous membranes and papular verrucous skin changes. Mutations within the extracellular matrix protein gene (ECM-1) are the underlying defect.We report on a 24-year-old man, who had first been seen inour department at the age of seven and had undergone the necessary diagnostic procedures and who revisited 17 years later with hoarseness and extensive verrucous skin changes at elbows and knees which were removed by excision. A new mutation of the ECM1 gene was identified.

Original languageGerman
Pages (from-to)401-405
Number of pages5
JournalJDDG - Journal of the German Society of Dermatology
Volume5
Issue number5
DOIs
Publication statusPublished - 1 May 2007
Externally publishedYes

Fingerprint

Lipoid Proteinosis of Urbach and Wiethe
Hoarseness
Skin
Mucous Membrane
Mutation
Hyalin
Extracellular Matrix Proteins
Elbow
Basement Membrane
Genes
Knee

Cite this

Vago, Bernadette ; Haußer, Ingrid ; Hennies, Hans Christian ; Enk, Alexander ; Jappe, Uta. / Hyalinosis cutis et mucosae. In: JDDG - Journal of the German Society of Dermatology. 2007 ; Vol. 5, No. 5. pp. 401-405.
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Hyalinosis cutis et mucosae. / Vago, Bernadette; Haußer, Ingrid; Hennies, Hans Christian; Enk, Alexander; Jappe, Uta.

In: JDDG - Journal of the German Society of Dermatology, Vol. 5, No. 5, 01.05.2007, p. 401-405.

Research output: Contribution to journalArticle

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AU - Vago, Bernadette

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