Rare case of multiple and perforating pilomatrixomas in a young girl with lymphovascular malformation reveals a potential new disease association

Clara Smith (Lead / Corresponding author), David Hamilton, Stuart Waterston

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article numbere248076
Number of pages4
JournalBMJ Case Reports
Volume15
Issue number5
DOIs
Publication statusPublished - 25 May 2022

Keywords

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

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