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.

Morphofunctional reconstruction is a pivotal aspect in the surgery of head and neck neoplasms: nowadays, microvascular free flap surgery represents the gold standard. In choosing the surgical technique, the effects on residual quality of life, especially in elderly people, usually considered more fragile and so often excluded from microsurgical procedures, must be taken into account. This multicentre study evaluated the quality of life index in patients more than 75 years of age and who underwent to head and neck microsurgical reconstruction. Data from patients aged > 75 years at the time of major head and neck reconstruction conducted with free flaps between 1 January 2005 and 30 June 2015 were analysed retrospectively. We administered the Italian version of Quality of Life questionnaire SF-36, at least 24 months after surgery. Results were compared to those for the general Italian population of the same age. We enrolled 39 patients with an average age of 80.6 years. The results did not differ significantly from the reference population. The international literature has already shown that chronologic age is not a valid parameter to determine the surgical treatment modality. Even considering the quality of residual life, our study supports the indication for free-flap reconstruction of head and neck defects in the elderly, confirming its effectiveness in this population.

La trombocitopenia eparino-indotta con trombosi rappresenta una complicanza che può portare a esiti drammatici nella chirurgia ricostruttiva microvascolare, tanto più che il suo riconoscimento non è sempre semplice. In ogni caso di trombosi microvascolare, in corso di terapia eparinica, il sospetto di HITT deve subito insorgere, così da poter intercettare e trattare la catena di eventi che porterebbe alla necrosi del lembo ricostruttivo. Presentiamo un caso che dimostra quanto possa essere difficile la diagnosi di HITT, così come appare negli altri reports reperibili in letteratura internazionale. I lembi microvascolari sono il gold standard nella chirurgia ricostruttiva cervico-facciale: purtroppo però il successo della metodica può essere inficiato da eventi trombo-embolici imprevedibili. Crediamo che una maggior divulgazione e la formulazione di domande anamnestiche specifiche possano essere utili nel limitare le conseguenze devastanti della HITT.