Abstract
Gardner syndrome describes a variant phenotype of familial adenomatous polyposis (FAP), primarily characterized by extracolonic lesions including osteomas, dental abnormalities, epidermal cysts, and soft tissue tumors. We describe a 2-yr-old boy presenting with a 2-cm soft tissue mass of the forehead. Pathologic evaluation revealed a nuchal-type/ Gardner-associated fibroma. Sequencing of the APC gene revealed a pathologic variant c.4666dupA. Parental sequencing of both blood and buccal tissue supported the de novo occurrence of this pathologic variant. Further imaging revealed a number of additional lesions including a large lumbar paraspinal desmoid, a 1-cm palpable lesion posterior to the left knee, firm lesions on bilateral heels, and multiple subdermal lesions. Colonoscopy was negative. This case illustrates a genetic variant of Gardner syndrome resulting in an aggressive early childhood phenotype and highlights the need for an individualized approach to treatment.
| Original language | English (US) |
|---|---|
| Article number | a003640 |
| Journal | Cold Spring Harbor Molecular Case Studies |
| Volume | 5 |
| Issue number | 2 |
| DOIs | |
| State | Published - 2019 |
Bibliographical note
Funding Information:Interestingly, dysfunction of the Wnt-β catenin pathway and abnormalities of cilia development have been hypothesized to be the underlying mechanisms of pathogenic extra-intestinal manifestations in FAP patients (Gómez and Knoers 2009; Nelson and Näthke 2013). This connection is supported by the presence of symptoms similar to Gardner syndrome in cilia-related disorders, and by the fact that APC is critical for the degradation of β-catenin in the Wnt-signaling pathway. Therefore, this pathway-specific function of APC may create a new context for therapeutic options for patients with Gardner syndrome.
Publisher Copyright:
© 2019 Kiessling et al. This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License, which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.