Congenital haemifacial hyperplasia

Correspondence to Dr Ankur Goyal; ankurgoyalaiims@gmail.com Description A 19-year-old man presented with gradually progressive facial asymmetry since birth with difficulty in chewing food and the right-sided hearing loss. Congenital haemifacial hyperplasia is a rare developmental disorder characterised by unilateral enlargement of both hard (bones and teeth) and soft tissues of face since birth.1 It is commoner in women and usually affects the right side of the face.2 3 Histologically, the increased number of cells rather than the increased cell size is seen in all the involved tissues.1 It can be further classified into true haemifacial hyperplasia (having unilateral enlargement of viscerocranium, bounded superiorly by frontal bone (not including the eye), inferiorly by inferior border of mandible, medially by the midline and laterally by the ear, including pinna) with enlargement of all tissues (teeth, muscle, bone and soft tissues) and partial haemifacial hyperplasia when all structures are not enlarged to the same degree or abnormal growth is limited to a single structure.3 4 Proposed aetiological factors include hormonal imbalances, neural disorders, incomplete twinning, abnormal intrauterine environment, somatic mutations, mechanical influences, vascular conditions and congenital syphilis.3 Associated abnormalities include thickened skin and hair, excessive secretion of sebaceous and sweat glands, telangiectasias and pigmentary defects on the affected side.4 Isolated haemifacial hyperplasia is a diagnosis of exclusion. Apart from that, unilateral distribution of dental anomalies and concurrent ipsilateral tongue enlargement are unique to haemifacial hyperplasia.4 5 Treatment involves integrated multidisciplinary approach and includes soft tissue debulking, reconstructive bony procedures and orthodontic treatment.2 It is indicated mainly for cosmetic purposes and ideally deferred until physiological growth ceases.1 Patient’s perspective Since childhood, the right side of my face is larger than the left side with some areas of abnormal skin colour.