ArticleThe Journal of experimental medicine2023
Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition.
Article in The Journal of experimental medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- Pooled it
- Oncogenic PIK3CA mutations shape an immunoregulatory microenvironment in mosaic overgrowth disorders.PNAS nexus · 2026Article
- First report of successful pregnancies after treatment with alpelisib for PIK3CA-related overgrowth spectrum.European journal of human genetics : EJHG · 2025Article
- Article
- Reply to Comment on Letter to the Editor: Humanitarian Facial Recognition for Rare Craniofacial Malformations.Plastic and reconstructive surgery. Global open · 2025Article
- Targeted therapy for capillary-venous malformations.Signal transduction and targeted therapy · 2024Article
- Humanitarian Facial Recognition for Rare Craniofacial Malformations.Plastic and reconstructive surgery. Global open · 2024Article
Corrections and comments
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Authors and funding
31 authors at 5 institutions in 1 country.
Funding
Abstract
Hemifacial myohyperplasia (HFMH) is a rare cause of facial asymmetry exclusively involving facial muscles. The underlying cause and the mechanism of disease progression are unknown. Here, we identified a somatic gain-of-function mutation of PIK3CA in five pediatric patients with HFMH. To understand the physiopathology of muscle hypertrophy in this context, we created a mouse model carrying specifically a PIK3CA mutation in skeletal muscles. PIK3CA gain-of-function mutation led to striated muscle cell hypertrophy, mitochondria dysfunction, and hypoglycemia with low circulating insulin levels. Alpelisib treatment, an approved PIK3CA inhibitor, was able to prevent and reduce muscle hypertrophy in the mouse model with correction of endocrine anomalies. Based on these findings, we treated the five HFMH patients. All patients demonstrated clinical, esthetical, and radiological improvement with proof of target engagement. In conclusion, we show that HFMH is due to somatic alteration of PIK3CA and is accessible to pharmacological intervention.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.