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Pseudoxanthoma elasticum with periumbilical perforation in a nullipara

Parimalam Kumar1, Athilakshmi Sivasubramanian, Sampath Vadivel

  • 1Department of Dermatology, Stanley Medical College, Chennai, India.

Indian Journal of Dermatology
|June 19, 2012
PubMed

Insights

Pseudoxanthoma elasticum (PXE), a genetic disorder affecting elastic fibers, can present with perforating skin lesions. This report details an unusual case of perforating PXE in a nulliparous woman without systemic involvement.

Area of Science:

  • Medical Genetics
  • Dermatology
  • Inherited Disorders

Background:

  • Pseudoxanthoma elasticum (PXE) is an inherited disorder affecting elastic fibers, primarily impacting the skin.
  • PXE is caused by mutations in the ATP-binding cassette transporter C6 (ABCC6) or multidrug resistance-associated protein 6 (MRP6) genes.
  • Perforating PXE is a rare variant, typically observed in the periumbilical region of obese, multiparous women, with distinct clinical and histopathological features.

Purpose of the Study:

  • To report an atypical case of perforating Pseudoxanthoma elasticum.
  • To highlight a rare presentation of PXE in a nulliparous woman.
  • To describe a case lacking systemic involvement.

Main Methods:

  • Case report detailing clinical presentation.
  • Histopathological examination of skin lesions.
  • Review of relevant literature on Pseudoxanthoma elasticum variants.

Main Results:

  • An unusual case of perforating PXE was identified in a nulliparous woman.
  • The patient presented with periumbilical lesions characteristic of perforating PXE.
  • No systemic manifestations of PXE were observed in this patient.

Conclusions:

  • Perforating PXE can occur in nulliparous women, challenging typical demographic associations.
  • This case underscores the variability in PXE presentation, even in its perforating form.
  • Further research may elucidate genetic or environmental factors influencing PXE phenotype variability.

Keywords:
Perforatingperiumbilicalpseudoxanthoma elasticum

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