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Congenital hemifacial hyperplasia
British Journal
0
of Oral and Maxillofacial Surgery
1988 The British Association
(1988) 26, 344-348 of Oral and Maxillofacial Surgeons
CONGENITAL
K. ANTONIADES, Department
HEMIFACIAL I. LETSIS,
HYPERPLASIA
AND D . KARAKASIS
of Oral and Maxillofacial Surgery, School of Dentistry, Aristotle University of Thessaloniki, Greece
Summary. A case of true hemifacial hyperplasia is described. This is an unusual condition which produces facial asymmetry by a marked, unilateral, localised overgrowth of all the tissues in the affected area, including, the facial soft tissues, bones and teeth. The patient is an eight-year-old Caucasian girl with congenital hemihyperplasia of the right side of her face.
Introduction
Hemifacial hyperplasia or ‘hemihypertrophy’ is an unusual congenital anomaly which produces asymmetry by a unilaterally localised overgrowth of all tissues on the affected side of the face. This condition is more prevalent in males, involving usually the right side of the face rather than the left (Rowe, 1962). The asymmetry is usually first noticed at birth and is progressive becoming accentuated during puberty. Abnormal enlargement generally ceases at 17 or 18 years of age as skeletal maturation occurs. (Ringrose et al., 1965). Many theories have been advanced to explain hemihyperplasia and these include anatomic and functional vascular or lymphatic abnormalities, lesions of the central nervous system, endocrine abnormalities, asymmetric cell divisions and chromosomal anomalies (Gorlin et al., 1976; Sutton, 1949; Deady et al., 1969). Case report
An &year-old girl was referred to our clinic with the request for treatment to the facial asymmetry which had been present since birth (Fig. 1). She had been a full-term baby, the last of three siblings (the eldest is normal, the second suffers from congenital hydrocephalus), of normal parents and without any previous family history of facial asymmetry. The mother had had no problems during pregnancy nor during delivery. Physical examination revealed a mentally healthy and active girl. The patient’s face was asymmetrical with an enlargement of the right side, including the malar, maxillary and mandibular regions. However examination revealed normal symmetrical development of the extremities and the trunk. The pinna of the right ear was grossly enlarged and there was a slight deviation of the nose and the chin to the left which appeared to be the normal side. The skin and hair appeared normal with the exception of a large hyperpigmented non-hairy patch on the right cheek and numerous epidermal naevi on the face. The right orbit was at a slightly higher level than the left one yet her eyeballs appeared to be of equal size. The soft tissues of the right cheek and the lips were thick and fleshy. There was an obvious enlargement of the tongue on the right side, which began abruptly at the (Received
28 June 1986; accepted 17 October
344
1986)
CONGENITAL
Fig. Figure
l-Photograph
HEMIFACIAL
1
Fig. 2
showing
Figure
345
HYPERPLASIA
the unilateral
2-Enlargement
enlargement of the face which was not affecting sensory nerves. of the right
motor nor
side of the tongue
midline. Speech was not impaired by this deformity of the tongue and the sense of taste appeared to be equally distributed (Fig. 2). The erupted teeth in the maxilla were 7,6,5,4,3,2,1,/1,C,4,E;6 and in the mandible 6,E,D,C,2,1,/1,2,C,D,E,6. The teeth on the affected side had matured earlier, were larger and had erupted prematurely with early loss of the deciduous teeth on the abnormal side followed rapidly by replacement with the permanent dentition. It was clear that there was a unilateral enhancement of development on this side. Radiographs revealed congenital absence of the right second lower premolar tooth. (Fig. 3) The first molars were measured in buccolingual dimension to determine differences in size. The width of the right maxillary molar was 26 mm and the left 15 mm; the right
Fig. Figure
3-An
OPG showing
3
the premature development of the right side of the patient’s the hyperplastic dentition.
maxillae
and
346
BRITISH
JOURNAL
OF
ORAL
&
MAXILLOFACIAL
SURGERY
mandibular molar 11 mm and the left 8 mm, The mesiodistal width of the upper right central incisor was 9 mm and the left upper central incisor 8 mm. Malocclusion was evident with an anterior open bite, distortion of the dental arches and spacing between the anterior teeth. A deviation to the left of the maxillary midline was noted. The right alveolar process when compared with the left was wider and thicker. This enlargement extended from the canine area being most prominent in the premolar and molar region (Fig. 4). In the buccal mucosa on the affected side a fibroma was present. No changes were noticed in the soft tissues of the nasopharynx.
Fig. 4 Figure &An
intra-oral photograph of the patient showing the enlarged incisors and canine teeth on the right side.
Fig. 5 Figure 5-A
coronal CT scan demonstrating
the participation of the soft and hard tissues to the facial asymmetry.
CONGENITAL
HEMIFACIAL
HYPERPLASIA
347
Audiograms established that the patients hearing was normal with no significant difference between the right and left side. Radiographs of the skull and facial bones confirmed the clinical findings (Figs. 3 & 5). All views showed enlargement of the facial bones on the right side. The mandible was unilaterally enlarged with the body of the mandible being longer on the right side with an enlarged right condyle resulting in mandibular deviation to the left. A most striking feature was the enlargement of the malar and maxillary bones on the right half of the facial skeleton. (Fig. 5). The right maxillary sinus was normally aerated. The orbits appeared to be equal in size. The sella turcica was of normal size and configuration and no abnormal calcifications were present in the cranial vault which had a normal bony architecture. Discussion Several conditions may resemble hemifacial hyperplasia. The unilateral type of unilateral massive haemangioma, fibrous dysplasia; Albright’s syndrome; lymphangioma; neurofibroma; congenital infiltrating lipomatosis and SturgeWeber syndrome all may give a false impression of being congenital hemifacial hyperplasia. (Rowe, 1962; Benze et al., 1973; Gorlin et al., 1976; Burchfield et al., 1980; Baker, 1984). In these conditions the enlargement is usually localised within tissues in one side of the face and it may be attributed to osseous hypertrophy or to a deformity in the soft tissues. On rare occasions, an extensive plexiform neurofibroma will cause a hemifacial overgrowth. This condition starts in infancy in conjunction with cafe au lait pigmentation of the skin and it is progressive. Both the fifth and seventh cranial nerves may be affected. These patients have a poor prognosis as recurrences are frequent and it is suggested that these arise from small nerve fibres hitherto apparently unaffected and also there is always the possibility of sarcomatous change. (Mustarde, 1979; Baker, 1984; Henderson, 1985). In our case ophthalmologic examination revealed no abnormalities in position nor function of the eyes and the cranial nerves were intact. No evidence of haemangioma, lymphangioma or neurofibroma was found in the enlarged soft tissues. The criteria for establishing a diagnosis of congenital hemifacial hyperplasia are unilateral enlargment of the viscerocranium and the overgrowth of all tissues on the affected side (teeth, bones and soft tissues). (Rowe, 1962), However the unilateral distribution of dental anomalies and the concurrent unilateral tongue enlargement are the prominent features which make this entity unique (Rowe, 1962; Spielman et al., 1971; Hume, 1975). These features are pathognomonic and led us to this diagnosis in this reported case. Congenital asymmetry of the face has been recorded in association with an adrenocortical tumour. Fraumeni et al. (1967) suggest that hemihyperplasia occurs excessively among children with neoplasms of the kidney, liver and adrenal cortex. The range and variability of the clinical abnormalities together with the large number of sporadic cases, suggests a wide aetiologic heterogenicity. (Gorlin, 1976; Loh, 1982). True hemifacial hyperplasia presents a great challenge in the surgical management of the jaw deformities, because of the diversity of the deformities which are present. In these cases individualized treatment is necessary and may involve osteotomies, ostectomies, reduction or augmentation contouring and associated soft tissue surgery (Deady et al., 1969; Hinds & Kent, 1972; Converse, 1977).
BRITISH
348
JOURNAL
OF
ORAL
&
MAXILLOFACIAL
SURGERY
References Baker, D. (1984). Soft tissue tumours of the head and neck: In: Pediatric Plastic Surgery Serafin, D. & Georgiade N. (Editors), 35, p.p. 655-677 St. Louis; Mosby Co. Bencze, J., Schnitzler, A. & Walawska, J. (1973): Dominant inheritance of hemifacial hyperplasia associated with strabismus. Oral Surgery, Oral Medicine, .Oral- Pathology, 35, 489. Burchfield, D. & Escobar, V. (1980): Familial facial asymmetry (autosomal dominant hemihypertrophy). Oral Surgery,
Oral Medicine,
Oral Pathology,
50, 321.
Converse, J. M. (1977). Reconstructive Plastic Surgery, 2nd Ed., p.p. 1382-83, Philadelphia: W. B. Saunders Co. Deady, M., Silagi, S. & Hutton, Ch. (1969): Hemihypertrophies of the face and mandible. Oral Surgery,
Oral Medicine,
Oral Pathology,
27, 577.
Fraumeni, J., Geiser, C. & Manning, M. (1967): Wilm’s tumour and congenital hemihypertrophy: report of five new cases and review of literature. Pediatrics, 40: 886. Gorlin, R., Pindborg, .I. & Cohen, M. (1976). Syndromes of the Head and Neck. 2nd Ed., p.p. 345-348, New York: MacGraw-Hill Co. Henderson, D. (1985). A Colour Atlas and Textbook of Orthognathic Surgery, p.p. 125-127. Weert: Wolfe Medical Publication. Hinds, E. C. & Kent, J. N. (1972). Surgical Treatment of Developmental Jaw Deformities. p.p. 176178, St Louis: C. V. Mosby Co. Hume, W. (1975). Hemifacial hypertrophy associated with endocrine disharmony. British Dental Journal,
139, 16.
Loh, H. S. (1982). Congenital hemifacial hypertrophy. British Dental Journal, 153, 111. Mustard&, .I. C. (1979). Plastic Surgery in Infancy and Childhood, 2nd Ed, p.p. 372-379, Edinburgh: Churchill Livingstone. Ringrose, R., Jabbour, J. & Keele, D. (1965). Hemihypertrophy. Pediatrics, 36: 434. Rowe, N. L. (1962): Hemifacial hypertrophy. Oral Surgery, Oral Medicine, Oral Pathology, 15, 572. Spielman, W., Marano, Ph., Kolodny, S. & Smart, E. (1971). True hemifacial hypertrophy: report of a case. Journal of Oral Surgery, 27, 592. Sutton, L. (1949). Hemihypertrophy of the face. Plastic and Reconstructive Surgery, 4, 276.
0
of Oral and Maxillofacial Surgery
1988 The British Association
(1988) 26, 344-348 of Oral and Maxillofacial Surgeons
CONGENITAL
K. ANTONIADES, Department
HEMIFACIAL I. LETSIS,
HYPERPLASIA
AND D . KARAKASIS
of Oral and Maxillofacial Surgery, School of Dentistry, Aristotle University of Thessaloniki, Greece
Summary. A case of true hemifacial hyperplasia is described. This is an unusual condition which produces facial asymmetry by a marked, unilateral, localised overgrowth of all the tissues in the affected area, including, the facial soft tissues, bones and teeth. The patient is an eight-year-old Caucasian girl with congenital hemihyperplasia of the right side of her face.
Introduction
Hemifacial hyperplasia or ‘hemihypertrophy’ is an unusual congenital anomaly which produces asymmetry by a unilaterally localised overgrowth of all tissues on the affected side of the face. This condition is more prevalent in males, involving usually the right side of the face rather than the left (Rowe, 1962). The asymmetry is usually first noticed at birth and is progressive becoming accentuated during puberty. Abnormal enlargement generally ceases at 17 or 18 years of age as skeletal maturation occurs. (Ringrose et al., 1965). Many theories have been advanced to explain hemihyperplasia and these include anatomic and functional vascular or lymphatic abnormalities, lesions of the central nervous system, endocrine abnormalities, asymmetric cell divisions and chromosomal anomalies (Gorlin et al., 1976; Sutton, 1949; Deady et al., 1969). Case report
An &year-old girl was referred to our clinic with the request for treatment to the facial asymmetry which had been present since birth (Fig. 1). She had been a full-term baby, the last of three siblings (the eldest is normal, the second suffers from congenital hydrocephalus), of normal parents and without any previous family history of facial asymmetry. The mother had had no problems during pregnancy nor during delivery. Physical examination revealed a mentally healthy and active girl. The patient’s face was asymmetrical with an enlargement of the right side, including the malar, maxillary and mandibular regions. However examination revealed normal symmetrical development of the extremities and the trunk. The pinna of the right ear was grossly enlarged and there was a slight deviation of the nose and the chin to the left which appeared to be the normal side. The skin and hair appeared normal with the exception of a large hyperpigmented non-hairy patch on the right cheek and numerous epidermal naevi on the face. The right orbit was at a slightly higher level than the left one yet her eyeballs appeared to be of equal size. The soft tissues of the right cheek and the lips were thick and fleshy. There was an obvious enlargement of the tongue on the right side, which began abruptly at the (Received
28 June 1986; accepted 17 October
344
1986)
CONGENITAL
Fig. Figure
l-Photograph
HEMIFACIAL
1
Fig. 2
showing
Figure
345
HYPERPLASIA
the unilateral
2-Enlargement
enlargement of the face which was not affecting sensory nerves. of the right
motor nor
side of the tongue
midline. Speech was not impaired by this deformity of the tongue and the sense of taste appeared to be equally distributed (Fig. 2). The erupted teeth in the maxilla were 7,6,5,4,3,2,1,/1,C,4,E;6 and in the mandible 6,E,D,C,2,1,/1,2,C,D,E,6. The teeth on the affected side had matured earlier, were larger and had erupted prematurely with early loss of the deciduous teeth on the abnormal side followed rapidly by replacement with the permanent dentition. It was clear that there was a unilateral enhancement of development on this side. Radiographs revealed congenital absence of the right second lower premolar tooth. (Fig. 3) The first molars were measured in buccolingual dimension to determine differences in size. The width of the right maxillary molar was 26 mm and the left 15 mm; the right
Fig. Figure
3-An
OPG showing
3
the premature development of the right side of the patient’s the hyperplastic dentition.
maxillae
and
346
BRITISH
JOURNAL
OF
ORAL
&
MAXILLOFACIAL
SURGERY
mandibular molar 11 mm and the left 8 mm, The mesiodistal width of the upper right central incisor was 9 mm and the left upper central incisor 8 mm. Malocclusion was evident with an anterior open bite, distortion of the dental arches and spacing between the anterior teeth. A deviation to the left of the maxillary midline was noted. The right alveolar process when compared with the left was wider and thicker. This enlargement extended from the canine area being most prominent in the premolar and molar region (Fig. 4). In the buccal mucosa on the affected side a fibroma was present. No changes were noticed in the soft tissues of the nasopharynx.
Fig. 4 Figure &An
intra-oral photograph of the patient showing the enlarged incisors and canine teeth on the right side.
Fig. 5 Figure 5-A
coronal CT scan demonstrating
the participation of the soft and hard tissues to the facial asymmetry.
CONGENITAL
HEMIFACIAL
HYPERPLASIA
347
Audiograms established that the patients hearing was normal with no significant difference between the right and left side. Radiographs of the skull and facial bones confirmed the clinical findings (Figs. 3 & 5). All views showed enlargement of the facial bones on the right side. The mandible was unilaterally enlarged with the body of the mandible being longer on the right side with an enlarged right condyle resulting in mandibular deviation to the left. A most striking feature was the enlargement of the malar and maxillary bones on the right half of the facial skeleton. (Fig. 5). The right maxillary sinus was normally aerated. The orbits appeared to be equal in size. The sella turcica was of normal size and configuration and no abnormal calcifications were present in the cranial vault which had a normal bony architecture. Discussion Several conditions may resemble hemifacial hyperplasia. The unilateral type of unilateral massive haemangioma, fibrous dysplasia; Albright’s syndrome; lymphangioma; neurofibroma; congenital infiltrating lipomatosis and SturgeWeber syndrome all may give a false impression of being congenital hemifacial hyperplasia. (Rowe, 1962; Benze et al., 1973; Gorlin et al., 1976; Burchfield et al., 1980; Baker, 1984). In these conditions the enlargement is usually localised within tissues in one side of the face and it may be attributed to osseous hypertrophy or to a deformity in the soft tissues. On rare occasions, an extensive plexiform neurofibroma will cause a hemifacial overgrowth. This condition starts in infancy in conjunction with cafe au lait pigmentation of the skin and it is progressive. Both the fifth and seventh cranial nerves may be affected. These patients have a poor prognosis as recurrences are frequent and it is suggested that these arise from small nerve fibres hitherto apparently unaffected and also there is always the possibility of sarcomatous change. (Mustarde, 1979; Baker, 1984; Henderson, 1985). In our case ophthalmologic examination revealed no abnormalities in position nor function of the eyes and the cranial nerves were intact. No evidence of haemangioma, lymphangioma or neurofibroma was found in the enlarged soft tissues. The criteria for establishing a diagnosis of congenital hemifacial hyperplasia are unilateral enlargment of the viscerocranium and the overgrowth of all tissues on the affected side (teeth, bones and soft tissues). (Rowe, 1962), However the unilateral distribution of dental anomalies and the concurrent unilateral tongue enlargement are the prominent features which make this entity unique (Rowe, 1962; Spielman et al., 1971; Hume, 1975). These features are pathognomonic and led us to this diagnosis in this reported case. Congenital asymmetry of the face has been recorded in association with an adrenocortical tumour. Fraumeni et al. (1967) suggest that hemihyperplasia occurs excessively among children with neoplasms of the kidney, liver and adrenal cortex. The range and variability of the clinical abnormalities together with the large number of sporadic cases, suggests a wide aetiologic heterogenicity. (Gorlin, 1976; Loh, 1982). True hemifacial hyperplasia presents a great challenge in the surgical management of the jaw deformities, because of the diversity of the deformities which are present. In these cases individualized treatment is necessary and may involve osteotomies, ostectomies, reduction or augmentation contouring and associated soft tissue surgery (Deady et al., 1969; Hinds & Kent, 1972; Converse, 1977).
BRITISH
348
JOURNAL
OF
ORAL
&
MAXILLOFACIAL
SURGERY
References Baker, D. (1984). Soft tissue tumours of the head and neck: In: Pediatric Plastic Surgery Serafin, D. & Georgiade N. (Editors), 35, p.p. 655-677 St. Louis; Mosby Co. Bencze, J., Schnitzler, A. & Walawska, J. (1973): Dominant inheritance of hemifacial hyperplasia associated with strabismus. Oral Surgery, Oral Medicine, .Oral- Pathology, 35, 489. Burchfield, D. & Escobar, V. (1980): Familial facial asymmetry (autosomal dominant hemihypertrophy). Oral Surgery,
Oral Medicine,
Oral Pathology,
50, 321.
Converse, J. M. (1977). Reconstructive Plastic Surgery, 2nd Ed., p.p. 1382-83, Philadelphia: W. B. Saunders Co. Deady, M., Silagi, S. & Hutton, Ch. (1969): Hemihypertrophies of the face and mandible. Oral Surgery,
Oral Medicine,
Oral Pathology,
27, 577.
Fraumeni, J., Geiser, C. & Manning, M. (1967): Wilm’s tumour and congenital hemihypertrophy: report of five new cases and review of literature. Pediatrics, 40: 886. Gorlin, R., Pindborg, .I. & Cohen, M. (1976). Syndromes of the Head and Neck. 2nd Ed., p.p. 345-348, New York: MacGraw-Hill Co. Henderson, D. (1985). A Colour Atlas and Textbook of Orthognathic Surgery, p.p. 125-127. Weert: Wolfe Medical Publication. Hinds, E. C. & Kent, J. N. (1972). Surgical Treatment of Developmental Jaw Deformities. p.p. 176178, St Louis: C. V. Mosby Co. Hume, W. (1975). Hemifacial hypertrophy associated with endocrine disharmony. British Dental Journal,
139, 16.
Loh, H. S. (1982). Congenital hemifacial hypertrophy. British Dental Journal, 153, 111. Mustard&, .I. C. (1979). Plastic Surgery in Infancy and Childhood, 2nd Ed, p.p. 372-379, Edinburgh: Churchill Livingstone. Ringrose, R., Jabbour, J. & Keele, D. (1965). Hemihypertrophy. Pediatrics, 36: 434. Rowe, N. L. (1962): Hemifacial hypertrophy. Oral Surgery, Oral Medicine, Oral Pathology, 15, 572. Spielman, W., Marano, Ph., Kolodny, S. & Smart, E. (1971). True hemifacial hypertrophy: report of a case. Journal of Oral Surgery, 27, 592. Sutton, L. (1949). Hemihypertrophy of the face. Plastic and Reconstructive Surgery, 4, 276.