Congenital Hemifacial Hyperplasia: Clinical Presentation and Literature Review

Abstract

Hemifacial hyperplasia is a rare congenital malformation characterized by noticeable unilateral excess development of hard and soft tissues of the face. Asymmetry in Congenital Hemifacial Hyperplasia (CHH) is usually evident at birth and accentuated at the age of puberty. The affected side grows exponentially as compared to the unaffected side. Multiple tissue involvement has resulted due to etiological heterogeneity like heredity, chromosomal abnormalities, altered intrauterine environment, and endocrine dysfunctions. As this lesion is rarely seen in our routine clinical practice, we present a case of hemifacial hyperplasia with reported orofacial features that supplement existing clinical knowledge. This paper also adds knowledge to the readers regarding detailed investigation procedures which has complemented our diagnosis. Further emphasis has been placed on periodic approach to its diagnosis and multidisciplinary management following correct diagnosis.

Congenital haemifacial hyperplasia

“…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.…”

“…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 Copyright 2020 BMJ Publishing Group.…”

“…2 It is indicated mainly for cosmetic purposes and ideally deferred until physiological growth ceases. 1…”