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Article

Atrophic skin patches with abnormal elastic fibers as a presenting sign of the MASS phenotype associated with mutation in the fibrillin 1 gene.

JAMA dermatology - 1 Aug 2014

Bergman Reuven, Nevet Mariela Judith, Gescheidt-Shoshany Hadas, Pimienta Allen L, Reinstein Eyal

Abstract excerpt

IMPORTANCE: Marfan syndrome (MFS) is a dominantly inherited disorder of connective tissue caused by mutations in the fibrillin 1 gene (FBN1). The most common skin finding in MFS is striae distensae. Particular individuals referred for suspected MFS who do not completely fulfill the MFS diagnostic criteria are classified as having a MASS phenotype. The acronym represents the following manifestations: a prolapsed...

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Source

Identifiers

PMID: 24740214
DOI: 10.1001/jamadermatol.2013.10036

Genes

FBN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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