PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly
Kritika Krishnamurthy1, Ukuemi Edema1, Berrin Ustun1,2
1Department of Pathology, Montefiore Medical Center, Bronx, New York 10467, United States.
Journal of Surgical Case Reports
|October 17, 2023
Summary
This case report details a rare instance of isolated macrodactyly, a form of PIK3CA-related overgrowth spectrum (PROS). Molecular testing confirmed a PIK3CA mutation, underscoring its diagnostic importance.
Area of Science:
- Genetics
- Dermatology
- Pathology
Background:
- PIK3CA-related overgrowth spectrum (PROS) encompasses diverse conditions caused by post-zygotic PIK3CA mutations.
- Isolated macrodactyly of the upper limb is a rare congenital anomaly, representing 0.9%-1% of such conditions.
Observation:
- A case of congenital, isolated, nonprogressive macrodactyly affecting the right index finger and thumb in an adult is presented.
- Microscopic examination revealed lipomatosis of the nerve.
Findings:
- Somatic PIK3CA variant (c.3140A>G, p.H1047R) was identified through molecular testing.
- The patient's condition was classified as a form of PROS based on the genetic findings.
Implications:
- This case emphasizes the critical role of molecular testing in diagnosing PROS and expanding our understanding of this evolving group of disorders.
- mTOR inhibitors represent a potential therapeutic option for progressive PROS cases.
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