Which physical findings are characteristic of Li-Fraumeni syndrome?

Updated: Nov 13, 2018
  • Author: ; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
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Answer

No specific physical findings are attributed to individuals affected by Li-Fraumeni syndrome other than the findings related to the presentation of specific cancers.

Physical findings related to specific cancers:

  • Breast lump (breast cancer)

  • Neurologic changes including seizures, headaches, vomiting, and gait abnormalities (brain cancers)

  • Formation of a soft-tissue mass (soft-tissue sarcoma) or a bone-related mass (bone sarcoma)

  • Fevers, pancytopenia, fatigue, pallor, bruising, bleeding, bone pain (acute leukemia)

  • Signs of virilization including prepubertal genital hair, clitoromegaly or increased penile size, deep voice, and acne associated with an abdominal mass (adrenal cortical carcinoma)

Annual physical examination as part of well care should be performed, including detailed skin and neurological assessments. [31]

Breast self-examination training and regular monthly breast self-examination, starting at age 18 years. [31]

Clinical breast examination should be performed every 6-12 months, starting at age 20-25 years. [31]

In patients with an identified TP53 mutation, when a tumor may arise is unknown; thus, having a physician with whom one has an established relationship may assist in noting changes in the physical examination.


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