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[Elastosis perforans serpiginosa in Down syndrome]

A Wilms1, R Dummer

  • 1Dermatologische Klinik, Universitätsspitals Zürich.

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete
|March 5, 1998
PubMed
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Elastosis perforans serpiginosa, a rare skin condition, can occur in individuals with Down syndrome. This case highlights diagnostic challenges, as the patient

Area of Science:

  • Dermatology
  • Genetics
  • Immunology

Background:

  • Elastosis perforans serpiginosa (EPS) is a rare perforating dermatosis.
  • It is characterized by the transepithelial elimination of abnormal elastic fibers.
  • EPS can be a rare complication in patients with Down syndrome.

Observation:

  • A 40-year-old woman with Down syndrome presented with skin lesions.
  • These lesions were histologically misdiagnosed as lupus vulgaris for an extended period.
  • The case highlights potential diagnostic difficulties in recognizing EPS in this patient population.

Findings:

  • The patient's skin lesions were ultimately identified as elastosis perforans serpiginosa.
  • The condition involves the elimination of abnormal elastic fibers through the epidermis.

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  • An immunological reaction to elastic fibers may underlie the pathogenesis.

    • Implications:

    • This case underscores the importance of considering rare dermatological complications in patients with Down syndrome.
    • Accurate and timely diagnosis of EPS is crucial for appropriate management.
    • Further research into the immunological aspects of EPS in Down syndrome may improve diagnostic accuracy.