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A somatic PIK3CA p.H1047L mutation in a Thai patient with isolated macrodactyly: a case report Cover

A somatic PIK3CA p.H1047L mutation in a Thai patient with isolated macrodactyly: a case report

Open Access
|Dec 2019

Figures & Tables

Figure 1

Clinical and radiologic features of the patient. The radio-graphs show enlarged middle and fourth fingers of the patient’s left hand

Figure 2

Postoperative 1-year follow-up radiologic features of the patient. The radiographs show enlarged middle and fourth fingers of the patient’s left hand (A and B)

Figure 3

Mutation analysis of the PIK3CA gene. The sequence electropherograms of the PIK3CA from (A) the cultured dermal fibroblasts, (B) the nerve tissues, and (C) peripheral leukocytes. The c.3140A>T mutation (arrows) is found in the dermal fibroblasts and nerve tissue but not peripheral leukocytes

Medical history timeline

Time of the investigationMedical record
07/04/2015PE* and X-ray imaging: Large soft tissue of the middle and ring fingers of the left hand (Figure 1)
20/09/2015First surgery: Reduction of the left middle finger with fusion of distal interphalangeal and proximal interphalangeal joints
05/04/2016PE* and X-ray imaging: Enlargement of subcutaneous, digital nerve, bone, and tendon of the left middle finger (Figure 2)
07/2016Second surgery: Debulking and correction osteotomy of the left middle finger
DOI: https://doi.org/10.1515/abm-2019-0037 | Journal eISSN: 1875-855X | Journal ISSN: 1905-7415
Language: English
Page range: 33 - 36
Published on: Dec 19, 2019
In partnership with: Paradigm Publishing Services
Publication frequency: 6 issues per year

© 2019 Wandee Udomchaiprasertkul, Pravit Kitidumrongsook, Kanya Suphapeetiporn, Vorasuk Shotelersuk, published by Chulalongkorn University
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.