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Case Report/Case Series |

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

Reuven Bergman, MD1; Mariela Judith Nevet, MD, PhD1; Hadas Gescheidt-Shoshany, MD1; Allen L. Pimienta, BSc2; Eyal Reinstein, MD, PhD3
[+] Author Affiliations
1Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
2Faculty of Medicine, Technion–Israel Institute of Technology, Haifa, Israel
3Medical Genetics Institute, Rambam Health Care Campus, Haifa, Israel
JAMA Dermatol. 2014;150(8):885-889. doi:10.1001/jamadermatol.2013.10036.
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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.

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Figure 1.
Clinical Presentation of an Atrophic Skin Lesion

An erythematous atrophic patch on the right buttock.

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Figure 2.
Histopathological Examination of the Atrophic Skin Lesion

A, A biopsy specimen obtained from the atrophic lesion on the left buttock. The epidermis is normal looking, and colloidlike aggregates in the papillary dermis consist predominantly of dense aggregates of eosinophilic fibers. An increased number of small blood vessels is also present (hematoxylin-eosin, original magnification ×200). B, An elastic tissue stain demonstrates that the colloidlike aggregates in the upper dermis are made largely of dense round aggregates of curly elastic fibers (Verhoeff–van Gieson [VVG] stain, original magnification ×200). C, A biopsy specimen obtained from the atrophic lesion on the right buttock. Short elastic fibers are seen along with thick and wavy irregular bundles of elastic fibers (VVG stain, original magnification ×400).

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Figure 3.
Electron Microscopy of an Atrophic Skin Lesion

A, Electron microscopy shows normal-looking collagen fibrils (C) and 2 abnormal-looking fragmented elastic fibers (E) with the appearance of cracks and holes at their peripheries, along with numerous microfibrils (original magnification ×20 000). B, Higher-magnification electron microscopy shows an elastic fiber with the appearance of numerous peripheral cracks, holes, and microfibrils, resulting in a cobweblike appearance (original magnification ×30 000). F indicates microfibrils.

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Figure 4.
Clinical Features of a Patient With the MASS Phenotype

The phenotype is named from the following features: mitral valve prolapse, myopia, borderline and nonprogressive aortic enlargement, and nonspecific skin and skeletal features. A, This patient has characteristic slender habitus and loss of subcutaneous fat. No pectus deformity of the anterior chest wall is seen. B, Elbow contractures are noted.

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