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CASE REPORT
Multiple sclerotic fibromas of the skin: an important clue for the diagnosis of Cowden syndrome
  1. Katarina Kieselova1,
  2. Felicidade Santiago1,
  3. Martinha Henrique1,
  4. Maria Fernanda Cunha2
  1. 1Department of Dermatology, Centro Hospitalar Leiria, Leiria, Portugal
  2. 2Department of Pathology, Centro Hospitalar Leiria, Leiria, Portugal
  1. Correspondence to Dr Katarina Kieselova, katarinakieselova{at}gmail.com

Summary

Cowden syndrome is a rare autosomal dominant condition characterised by mucocutaneous hamartomas and, most importantly, predisposition to various extracutaneous benign and malignant tumours. This disorder is associated with a germline mutation in the phosphatase and tensin homologue gene, a tumour suppressor gene, located on 10q23 chromosome. The expressivity of this genodermatosis is highly variable, therefore many of the cases remain undiagnosed. Skin and mucous findings are very common in Cowden syndrome and may represent the initial clinical manifestation leading to the diagnosis. The authors describe a case of a 58-year-old man with multiple cutaneous sclerotic fibromas associated with a previously unrecognised Cowden syndrome.

  • dermatology
  • genetics
  • screening (oncology)

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Footnotes

  • Handling editor Seema Biswas.

  • Contributors MH and MFC made the diagnosis and MH performed the complete investigation and management of the patient. KK and FS wrote the manuscript and performed the literature review. All authors contributed to the reporting and approved the final version of the manuscript.

  • Competing interests None declared.

  • Patient consent Obtained.

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