Facial Features of Hereditary Cancer Predisposition.
JCO Oncol Pract
; 20(9): 1182-1197, 2024 Sep.
Article
in En
| MEDLINE
| ID: mdl-38713892
ABSTRACT
In the age of telehealth medicine, an individual's facial features may provide the only physical clues signaling the presence of a heritable cancer predisposition syndrome. These syndromes include APC-associated polyposis, Birt-Hogg-Dubé syndrome, CYLD cutaneous syndrome, hereditary leiomyomatosis and renal cell cancer, multiple endocrine neoplasia, neurofibromatosis type 1, Peutz-Jeghers syndrome, PTEN hamartoma tumor syndrome, and tuberous sclerosis complex 1 and 2, among others. Correctly identifying characteristic features is important for genetic and nongenetic specialists as early detection can enable prompt intervention, improving patient outcomes. Advancements in the availability of genetic testing allow patients and their relatives to have more information about their genetic risk profile than before. These changes in clinical pathways, combined with improvements in screening and risk-reducing treatment, highlight the need to outline the cutaneous and morphologic features of high-risk cancer syndromes for clinicians. In this review, we describe the important facial features of hereditary cancer predisposition, with emphasis on diagnosis, cutaneous and extracutaneous manifestations, and screening.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Neoplastic Syndromes, Hereditary
/
Genetic Predisposition to Disease
Limits:
Humans
Language:
En
Journal:
JCO Oncol Pract
Year:
2024
Document type:
Article
Affiliation country:
Country of publication: