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Related Experiment Videos

Familial anetoderma.

Jean E Thomas1, Darius R Mehregan, Jean Holland

  • 1Pinkus Dermatopathology Laboratory, Monroe, MI 48162, USA. jethomas@pinkuslab.com

International Journal of Dermatology
|February 13, 2003
PubMed
Summary

This case study details a patient with anetoderma, a rare skin condition characterized by sac-like skin protrusions due to loss of elastic fibers. The condition appears to have a familial component, presenting with inflammation followed by lax skin.

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Area of Science:

  • Dermatology
  • Genetics
  • Pathology

Background:

  • Anetoderma is a rare skin condition characterized by the loss of elastic fibers in the dermis.
  • It can manifest as localized or generalized skin atrophy and herniation.
  • Familial cases suggest a potential genetic predisposition.

Observation:

  • A 31-year-old male presented with erythematous, saccular skin outpouchings on his back, shoulders, and upper extremities.
  • The patient's mother and aunt had a similar disorder, indicating a possible hereditary pattern.
  • Physical examination showed large, confluent sac-like skin protrusions.

Findings:

  • Histopathology revealed a normal epidermis and superficial dermis with minimal perivascular lymphocytes.
  • Crucially, elastic stains demonstrated a complete absence of elastic fibers in the mid and lower reticular dermis.

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  • These findings are pathognomonic for anetoderma.

    • Implications:

    • This case highlights the clinical presentation and histopathological hallmarks of anetoderma.
    • The apparent familial occurrence underscores the need for genetic counseling and further research into anetoderma's etiology.
    • Early diagnosis and management can help mitigate the cosmetic and psychological impact of this condition.