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Acral steatocystoma multiplex.

T Rollins1, R M Levin, W R Heymann

  • 1Division of Dermatology, Cooper Hospital/University Medical Center, UMDNJ-Robert Wood Johnson Medical School at Camden, Marlton, NJ 08053, USA.

Journal of the American Academy of Dermatology
|July 20, 2000
PubMed
Summary
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Steatocystoma multiplex (SM) typically presents with widespread skin cysts. This case report details a rare instance of SM predominantly affecting the extremities, suggesting a unique presentation.

Area of Science:

  • Dermatology
  • Genetics
  • Pathology

Background:

  • Steatocystoma multiplex (SM) is a genetic disorder causing multiple cutaneous cysts.
  • Lesions commonly affect the trunk, neck, scalp, and proximal limbs due to pilosebaceous unit distribution.
  • Typical SM presentation involves well-developed pilosebaceous areas.

Observation:

  • A case of a woman with steatocystoma multiplex is presented.
  • The patient exhibited a predominantly acral distribution of lesions.
  • This acral predominance is, to our knowledge, a previously unreported SM phenotype.

Findings:

  • The patient's unique SM distribution may stem from a genetic predisposition.
  • A familial defect in keratin 17 is hypothesized.
  • Ectopic acral sebaceous follicles might contribute to the acral phenotype.

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Implications:

  • This case expands the known clinical spectrum of steatocystoma multiplex.
  • Understanding genetic and follicular factors can elucidate atypical SM presentations.
  • Further research into keratin 17 and acral follicle development in SM is warranted.