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PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly.

Authors :: Krishnamurthy K
Edema U
Ustun B
Villanueva-Siles E
Koehler SM
Naeem R
Wang Y
Goldstein DY
Source :: Journal of surgical case reports [J Surg Case Rep] 2023 Oct 14; Vol. 2023 (10), pp. rjad549. Date of Electronic Publication: 2023 Oct 14 (Print Publication: 2023).
Publication Year :: 2023
Abstract: PIK3CA-related overgrowth spectrum (PROS) is a heterogeneous group of diseases, with varied clinical presentations ranging from isolated segmental overgrowths to megalencephaly and vascular malformations, all resulting from post-zygotic activating mutations in PIK3CA. Isolated macrodactyly of upper limb is extremely rare, accounting only for 0.9%-1% of all congenital anomalies of the upper limb. This report describes a case of congenital, isolated, nonprogressive macrodactyly of the right index finger and thumb, in an adult patient that was treated with debulking surgery. The microscopic features were compatible with lipomatosis of nerve. Due to the prompt and pertinent molecular testing, which identified a somatic PIK3CA variant, c.3140A > G, p.H1047R., the case was classified as a PROS. The availability of mTOR inhibitors offers additional treatment possibilities in cases with progressive disease. This case report highlights the importance of molecular testing to identify PROS, to further the knowledge of this continually expanding entity.<br />Competing Interests: None declared.<br /> (Published by Oxford University Press and JSCR Publishing Ltd. © The Author(s) 2023.)