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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
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)
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
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
Published by: Chulalongkorn University
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.