Atrophic Skin Patches With Abnormal Elastic Fibers as a Presenting Sign of the MASS Phenotype Associated With Mutation in the Fibrillin 1 Gene | Zendy

Richard N. Bergman | Zendy; Mariela J. Nevet | Zendy; Hadas Gescheidt-Shoshany | Zendy; Allen L. Pimienta | Zendy; Eyal Reinstein | Zendy

Open Access

Atrophic Skin Patches With Abnormal Elastic Fibers as a Presenting Sign of the MASS Phenotype Associated With Mutation in the Fibrillin 1 Gene

Author(s) -

Richard N. Bergman,

Mariela J. Nevet,

Hadas Gescheidt-Shoshany,

Allen L. Pimienta,

Eyal Reinstein

Publication year - 2014

Publication title -

jama dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.128

H-Index - 166

eISSN - 2168-6084

pISSN - 2168-6068

DOI - 10.1001/jamadermatol.2013.10036

Subject(s) - fibrillin , medicine , pathology , marfan syndrome , phenotype , connective tissue , differential diagnosis , dermatology , genetics , gene , biology

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 mitral valve, myopia, aortic root enlargement, and skeletal and skin manifestations. Mutations in FBN1 have been shown to be associated in some cases with the MASS phenotype. Skin manifestations may be an important clue to the diagnosis of these disorders.

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