Segmental storiform collagenomas: Expanding the spectrum of PTEN hamartoma tumor syndrome in children

Kaiane Habeshian, Alison Huppmann, Carlos Ferreira, A. Yasmine Kirkorian

Research output: Contribution to journalArticlepeer-review

Abstract

A 4-year-old girl with autism spectrum disorder and congenital heart disease presented to dermatology clinic for evaluation of skin growths present since infancy. Physical examination was significant for macrocephaly and agminated skin-colored to pink papulonodules in a segmental distribution on the right lower back and buttocks, biopsy of which showed storiform collagenomas (sclerotic fibromas). Genetic testing revealed a pathogenic missense mutation in the PTEN gene, and a diagnosis of PTEN hamartoma tumor syndrome was made. The segmental nature of her storiform collagenomas is unique, to our knowledge, and may be explained by a postzygotic second-hit PTEN mutation, contributing to the growing spectrum of clinical findings associated with PTEN hamartoma tumor syndrome.

Original languageEnglish (US)
Pages (from-to)e253-e254
JournalPediatric Dermatology
Volume35
Issue number4
DOIs
StatePublished - Jul 1 2018
Externally publishedYes

Keywords

  • developmental defects
  • genodermatoses
  • hamartomas
  • lumps/bumps

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

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