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Familial elastosis perforans serpiginosa

E G Langeveld-Wildschut1, J Toonstra, W A van Vloten

  • 1Department of Dermatology, University Hospital Utrecht, The Netherlands.

Archives of Dermatology
|February 1, 1993
PubMed
Summary
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Elastosis perforans serpiginosa (EPS), a rare skin condition, appears to be inherited in an autosomal dominant pattern. This suggests a congenital origin with varying symptoms within affected families.

Area of Science:

  • Dermatology
  • Genetics
  • Pathology

Background:

  • Elastosis perforans serpiginosa (EPS) is a rare genodermatosis.
  • Characterized by transepidermal elimination of abnormal elastic fibers.
  • Often linked to connective tissue disorders or Down's syndrome, but pathogenesis remains unclear.

Observation:

  • A family study investigated EPS occurrence.
  • Two sisters and a brother presented with EPS.
  • The father and paternal uncles showed probable signs of EPS, suggesting familial aggregation.

Findings:

  • The study suggests an autosomal dominant inheritance pattern for EPS.
  • Variable expression of the disease was noted among family members.
  • No other congenital connective tissue diseases were identified in the affected family.

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Implications:

  • Findings support a congenital, likely genetic, basis for EPS.
  • Understanding the inheritance pattern is crucial for genetic counseling.
  • Further research into EPS pathogenesis and genetic factors is warranted.