Clinical Paper
Clinical Pathology
Hemifacial hyperplasia: a case series and review of the literature

https://doi.org/10.1016/j.ijom.2020.05.008Get rights and content

Abstract

Condylar hyperplasia is known to result in facial asymmetries and constitutes a well-recognized group of unilateral mandibular enlargements. Condylar hyperplasia has been sub-classified into hemimandibular hyperplasia and hemimandibular elongation. A much rarer disorder, hemifacial hyperplasia (or hemifacial hypertrophy) is a congenital malformation characterized by prominent unilateral overdevelopment of the hard and soft tissues of the face. The affected side grows at a faster rate than the non-affected side, creating a marked asymmetry that potentially involves the skeleton and teeth, as well as all components of the associated soft tissues. Hemifacial hyperplasia is usually identified at birth and progresses towards puberty, but is not thought to alter throughout the lifetime of affected individuals. A case series of five patients clinically diagnosed with hemifacial hyperplasia is presented, with the aim of reviewing the clinical features, discussing their individual surgical management, and summarizing the more recent identification of possible genetic mutations that may be responsible for hemifacial hyperplasia and related overgrowth disorders. It is speculated that depending on the genetic factors, the disorder may be progressive in specific cases.

Section snippets

Case 1

A 6-year-old male was referred to the department for investigation of facial asymmetry. His family history was unremarkable, and on examination he had capillary vascular lesion discolouration on his trunk and left neck. A left-sided facial enlargement was evident and included the left ear, zygomatic complex, and mandible (Fig. 1A). There was a deviation of the chin towards the right (Fig. 1B). Intraorally, a left-sided enlargement of the tongue with raised papillae was noted (Fig. 1C) and his

Discussion

The terms ‘hemifacial hypertrophy’ and ‘hemifacial hyperplasia’ have typically been used interchangeably in the modern literature. Histological nomenclature states that this condition is to be referred to as hemifacial hyperplasia, as the tissues exhibit an increase in the number of cells rather than an increase in the size of cells4, 5 therefore, ‘hemifacial hyperplasia’ is a more correct pathological description of the disorder.

Hemifacial hyperplasia is a rare developmental deformity that may

Competing interests

Nothing to declare.

Funding

No funding sourced.

Ethical approval

Provided as approved with individual patient consent.

Patient consent

Written consent was obtained from all patients or parents/guardians of patients to use images and records for publication.

Statement to confirm

All authors (AD, AH) have viewed and agreed to the submission

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