Have a personal or library account? Click to login
Phenotypic Variability of Cowden Syndrome Within a Single Family: Impact on Diagnosis, Management and Genetic Counselling Cover

Phenotypic Variability of Cowden Syndrome Within a Single Family: Impact on Diagnosis, Management and Genetic Counselling

Open Access
|Mar 2025

Figures & Tables

Figure 1.

A Magnetic resonance imaging (MRI) of the thigh showing a tumor within the vastus lateralis and medialis muscles, Patient 1; B Intraoperative findings during excision of the tumor from the medial aspect of the distal thigh, Patient 1; C Tumor in the left inguinal region, Patient 1; D Completely excised tumor from the left inguinal region, Patient 1; E Tumor located in the left paraspinal region, Patient 2; F Magnetic resonance imaging (MRI) of the lumbar region reveals a paraspinal lipomatous lesion involving the musculature and aponeurotic structures, Patient 2; G Tumor recurrence in the left paraspinal region at the site of the postoperative scar, Patient 2; H Presence of subcutaneous soft tissue tumors in the siblings’ grandfather, Patient 4.
A Magnetic resonance imaging (MRI) of the thigh showing a tumor within the vastus lateralis and medialis muscles, Patient 1; B Intraoperative findings during excision of the tumor from the medial aspect of the distal thigh, Patient 1; C Tumor in the left inguinal region, Patient 1; D Completely excised tumor from the left inguinal region, Patient 1; E Tumor located in the left paraspinal region, Patient 2; F Magnetic resonance imaging (MRI) of the lumbar region reveals a paraspinal lipomatous lesion involving the musculature and aponeurotic structures, Patient 2; G Tumor recurrence in the left paraspinal region at the site of the postoperative scar, Patient 2; H Presence of subcutaneous soft tissue tumors in the siblings’ grandfather, Patient 4.

Figure 2.

A. At scanning magnification the lesion were composed of a variable admixture of adipose tissue and abnormal vessels; B.Dominant adipocytic component containing clusters of back-to back thin-walled veins and lymphocytic aggregate (arrow); C. Fibromyxoid stroma in vascular clusters; D. Indeterminate small vessels reminiscent of veins dispersed within adipose tissue; E.Arterial component with coiled thick-walled artery with tiny lumen (arrow) and lymphocytic aggregate (arrowhead); F.Hypertrophic nerves within lesion (arrows) compared to normal looking nerve (arrowhead).
A. At scanning magnification the lesion were composed of a variable admixture of adipose tissue and abnormal vessels; B.Dominant adipocytic component containing clusters of back-to back thin-walled veins and lymphocytic aggregate (arrow); C. Fibromyxoid stroma in vascular clusters; D. Indeterminate small vessels reminiscent of veins dispersed within adipose tissue; E.Arterial component with coiled thick-walled artery with tiny lumen (arrow) and lymphocytic aggregate (arrowhead); F.Hypertrophic nerves within lesion (arrows) compared to normal looking nerve (arrowhead).
Language: English
Page range: 95 - 100
Published on: Mar 6, 2025
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 times per year

© 2025 N Ilic, N Mitrovic, R Radeta, S Krasić, V Vukomanović, G Samardzija, M Vasic, A Vlahovic, A Sarajlija, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.