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

MedStar author(s):
Citation: Pediatric Dermatology. 35(4):e253-e254, 2018 Jul.PMID: 29806868Institution: MedStar Washington Hospital CenterDepartment: DermatologyForm of publication: Journal ArticleMedline article type(s): Journal ArticleSubject headings: *Hamartoma Syndrome, Multiple/di [Diagnosis] | *Skin Neoplasms/pa [Pathology] | Child, Preschool | Female | Fibroma/pa [Pathology] | Genetic Testing/mt [Methods] | Humans | Mutation, Missense | PTEN Phosphohydrolase/ge [Genetics] | Skin/pa [Pathology]Year: 2018ISSN:
  • 0736-8046
Name of journal: Pediatric dermatologyAbstract: 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.Copyright (c) 2018 Wiley Periodicals, Inc.All authors: Ferreira C, Habeshian K, Huppmann A, Kirkorian AYFiscal year: FY2019Digital Object Identifier: ORCID: Date added to catalog: 2018-06-19
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Journal Article MedStar Authors Catalog Article 29806868 Available 29806868

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.

Copyright (c) 2018 Wiley Periodicals, Inc.

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