Case report: Single-stage facial reanimation with bilateral lengthening temporalis myoplasties for immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome related developmental facial palsy

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare primary immunodeficiency, typically as-sociated with clinical features of intractable diarrhoea, type 1 di-abetes mellitus and eczema. We present a case of IPEX syndrome referred to our regional facial palsy service for smile restoration surgery. The patient presented with dissatisfaction of facial ap-pearance, including mask-like facies and no functional smile. Pre-operative electromyography confirmed normal temporalis muscle activation. Consequently, the patient was offered single-stage bilat-eral lengthening temporalis myoplasties. The patient reported improved satisfaction with facial appearance. Surgery resulted in good early resting and voluntary symmetry. Oral commissures were el-evated at rest improving oral incompetence. This is the first de-scription of facial animation surgery in the context of IPEX syn-drome. With careful consideration and patient selection, successful surgical restoration of resting symmetry and dynamic commissural smile can be achieved in this complex cohort of patients.(c) 2023 The Authors. Published by Elsevier Ltd on behalf of British Association of Plastic, Reconstructive and Aesthetic Surgeons. This is an open access article under the CC BY-NC-ND license ( http://creativecommons.org/licenses/by-nc-nd/4.0/ )

Automated summary

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare primary immunodeficiency that presents with clinical features of intractable diarrhoea, type 1 diabetes mellitus and eczema. We report a case of IPEX syndrome that underwent facial restoration surgery due to dissatisfaction with facial appearance and lack of functional smile. The patient underwent bilateral lengthening temporalis myoplasties, resulting in improved facial appearance and resting and dynamic smile symmetry.