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Rare case of multiple and perforating pilomatrixomas in a young girl with lymphovascular malformation reveals a potential new disease association
  1. Clara Smith,
  2. David Hamilton and
  3. Stuart Waterston
  1. Department of Plastic Surgery, NHS Tayside, Dundee, UK
  1. Correspondence to Miss Clara Smith; clara.smith{at}nhs.scot

Abstract

This report details the case of a girl of primary school age who was referred to our plastic surgery department with an ulcerating lesion on the nape of her neck. A firm mass was palpable in the underlying subcutaneous tissue. This lesion was accompanied by two smaller firm nodules: one in the adjacent tissue and another in the left preauricular region. Ultrasound and MRI demonstrated multiple calcified nodules confined to the subcutaneous tissue. An incisional biopsy of the ulcerating lesion confirmed a diagnosis of perforating pilomatrixoma; the lesion was subsequently excised, with no sign of recurrence at 3-month follow-up. The patient had a history of lymphovascular malformation (LVM) and a paternal history of Gardner’s syndrome. Pilomatrixoma and Gardner’s syndrome have a well-documented association in existing literature; aberrant Wnt/beta-catenin signalling is common to both. Recent laboratory studies suggest this pathway is also implicated in the pathogenesis of LVM.

  • Genetic screening / counselling
  • Pathology
  • Plastic and reconstructive surgery
  • Dermatology

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Footnotes

  • Contributors CS and SW contributed to the conception of this work. CS acquired the data, performed the literature review and drafted the report, before revising it. DH assisted in the acquisition of data and in the initial literature survey. SW assisted in the acquisition of data and revised the report critically. All authors approved the final version of the report to be published and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.