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Segmental storiform collagenomas: Expanding the spectrum of PTEN hamartoma tumor syndrome in children
Author(s) -
Habeshian Kaiane,
Huppmann Alison,
Ferreira Carlos,
Kirkorian A. Yasmine
Publication year - 2018
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13535
Subject(s) - pten , macrocephaly , medicine , missense mutation , hamartoma , pathology , buttocks , mutation , gene , anatomy , pi3k/akt/mtor pathway , genetics , biology , apoptosis
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.