Hedgehog pathway mutations are involved in the pathogenesis of plaque-type “trichoblastoma”: A report of two cases

Jenny Giang*, Antien L. Mooyaart, Sanne R. Martens-de Kemp, Lies Jaspars, Marlies Wakkee, Erik Eijken, Walter Voogt, Winand N.M. Dinjens, Jeffrey Damman

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

We present two cases of plaque-type trichoblastoma with atypical foci. A rare variant of trichoblastoma is the plaque variant, which is characterized by poor circumscription and locally infiltrative growth pattern. These lesions mostly require multiple stages of Mohs micrographic surgery. Debate still exists whether this variant should be considered as a benign entity or as “low-grade” malignant counterpart of trichoblastoma. In this report we describe two cases of plaque-type trichoblastoma with atypical foci, which harbored somatic mutations in the Hedgehog pathway, thus should be acknowledged as intermediate malignancies. In addition, extensive molecular workup of both the trichoblastic and atypical component in sequential lesions in the same patient was performed.

Original languageEnglish
Pages (from-to)674-680
Number of pages7
JournalJournal of Cutaneous Pathology
Volume50
Issue number7
Early online date6 Jan 2023
DOIs
Publication statusPublished - Jul 2023

Bibliographical note

Publisher Copyright:
© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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