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

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  • Additional Information
    • Source:
      Publisher: American Medical Association Country of Publication: United States NLM ID: 101589530 Publication Model: Print Cited Medium: Internet ISSN: 2168-6084 (Electronic) Linking ISSN: 21686068 NLM ISO Abbreviation: JAMA Dermatol Subsets: MEDLINE
    • Publication Information:
      Original Publication: Chicago, IL : American Medical Association, [2013]-
    • Subject Terms:
      Elastic Tissue/*pathology ; Marfan Syndrome/*diagnosis ; Microfilament Proteins/*genetics ; Skin/*pathology ; Subcutaneous Fat/*pathology; Atrophy/pathology ; Buttocks ; Elastic Tissue/ultrastructure ; Fibrillin-1 ; Fibrillins ; Humans ; Male ; Marfan Syndrome/genetics ; Middle Aged ; Phenotype ; Skin/ultrastructure ; Subcutaneous Fat/ultrastructure
    • Abstract:
      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 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.
      Observations: We studied a patient referred for unusual atrophic skin patches on the buttocks. Results of histopathological examination and electron microscopy demonstrated markedly abnormal elastic fibers. Subsequent medical genetics evaluation led ultimately to the diagnosis of the MASS phenotype and the discovery of an underlying FBN1 mutation.
      Conclusions and Relevance: Although the clinical suspicion and diagnosis of MFS and related disorders are usually established by its main associated clinical features, including ophthalmologic, skeletal, and vascular involvement, clinicians should be aware of the associated skin manifestations, including unusual atrophic patches with abnormal elastic fibers that can sometimes be the first noted sign of the genetic disorder.
    • Accession Number:
      0 (FBN1 protein, human)
      0 (Fibrillin-1)
      0 (Fibrillins)
      0 (Microfilament Proteins)
    • Publication Date:
      Date Created: 20140418 Date Completed: 20141028 Latest Revision: 20211203
    • Publication Date:
      20221213
    • Accession Number:
      10.1001/jamadermatol.2013.10036
    • Accession Number:
      24740214