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Article

Hyalinosis cutis et mucosae.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG - 1 May 2007

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

Abstract excerpt

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...

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Source

Identifiers

PMID: 17451385
DOI: 10.1111/j.1610-0387.2007.06284.x

Genes

ECM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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