Segmental storiform collagenomas: Expanding the spectrum of PTEN hamartoma tumor syndrome in children |
| |
| Authors: | Kaiane Habeshian MD Alison Huppmann MD Carlos Ferreira MD A Yasmine Kirkorian MD |
| |
| Institution: | 1. Department of Dermatology, MedStar Georgetown University‐Washington Hospital Center, Washington, District of Columbia;2. Department of Pathology, Children's National Health System, Washington, District of Columbia;3. Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia;4. Division of Dermatology, Children's National Health System, Washington, District of Columbia |
| |
| 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. |
| |
| Keywords: | developmental defects genodermatoses hamartomas lumps/bumps |
|
|
