Oral and Maxillofacial Surgery Cases 4 (2018) 73e83

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Oral and Maxillofacial Surgery Cases

journal homepage: www.oralandmaxillofacialsurgerycases.com

Parry Romberg syndrome: A long-term retrospective cohort

study of 10 patients
F. Van der Cruyssen a, b, *, J. Meeus b, J. Schoenaers b, C. Politis a, b
a
OMFS-IMPATH Research Group, Department of Imaging and Pathology, Faculty of Medicine, Catholic University Leuven, Leuven,
Belgium
b
Department of Oral and Maxillofacial Surgery, Leuven University Hospitals, Belgium

a r t i c l e i n f o a b s t r a c t

Article history: We performed a retrospective cohort study of patients included in the database of the
Received 15 March 2018 department of Oral & Maxillo-Facial Surgery between 2006 and 2016 at the University
Accepted 28 March 2018 Hospitals Leuven with Parry Romberg syndrome to assess and compare initial presenta-
Available online 30 April 2018
tion, diagnostic methods, and different surgical and non-surgical approaches. Primary
outcomes were functional and esthetic results using intra- and extra-oral images, clinical
Keywords:
orthognathic measurements, radiological cephalograms, and cone beam computed to-
Parry Romberg syndrome
mography, including three-dimensional cephalometry analyzing the facial symmetry of
Hemifacial atrophy
Facial muscular wasting
hard tissues. The secondary outcome was patient quality of life using the Ferrans and
Facial scleroderma Powers Generic Quality of Life Index. Ten patients were included; two had medical
Facial lipodystrophy treatment, three had reconstructive surgery, four had orthognathic surgery, and three had
lipofilling. Two patients had post-surgical infectious complications. Two patients devel-
oped neuropathic pain. Three-dimensional cephalometry showed no significant difference
with regards to anatomical bony landmarks between the affected and non-affected sides. A
volumetric analysis showed a significant difference (P¼0.04) in maxillary volumes. Seven
patients were satisfied with their aesthetic and functional outcomes. Mean follow up was
eleven years. In conclusion, this study should be interpreted carefully due to small sample
size. We feel most patients can be treated conservatively or with minor aesthetic correc-
tions using fat grafting methods. Use of allografts and osteosynthesis materials was
associated with an increased risk of postoperative superinfection. Fat grafts produced
predictable, noncomplicated results and can be used during disease progression. Three-
dimensional analysis showed acceptable symmetry of the bony framework on follow-up.
© 2018 The Authors. Published by Elsevier Inc. This is an open access article under the CC
BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

1. Introduction

Parry Romberg syndrome is a rare progressive disease causing hemifacial atrophy. It affects more women than men, and its
etiology is still largely unknown [1]. The diagnosis is made on a clinical basis. The expert opinion is that it should be
considered a spectrum disease of linear scleroderma. Consequently, it is possible to categorize this disease according to
severity, aiding in the choice of treatment. Treatment options vary from conservative anti-inflammatory drug therapy to

* Corresponding author. OMFS-IMPATH Research Group, Department of Imaging and Pathology, Faculty of Medicine, Catholic University Leuven, Leuven,
Belgium.
E-mail address: frederic.vandercruyssen@uzleuven.be (F. Van der Cruyssen).

https://doi.org/10.1016/j.omsc.2018.04.004
2214-5419/© 2018 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/
licenses/by-nc-nd/4.0/).
74 F. Van der Cruyssen et al. / Oral and Maxillofacial Surgery Cases 4 (2018) 73e83

lipofilling and reconstructive orthognathic surgery. In this article, we present all our cases with an extensive discussion
supported by current literature.

2. Materials and methods

2.1. Data collection

We conducted a search of all patient records at the Oral and Maxillo-Facial Department of the University Hospitals, Leuven,
between 2006 and 2016, using following search terms: hemifacial atrophy, Parry, Romberg, and morphea en coup de sabre.
Information from the files was extracted and patients were contacted for a follow-up consultation (Fig. 1). During the follow-
up consultation, the following data was obtained: history, current complaint, general clinical exam, clinical orthognathic
measurements, VECTRA® 3D imaging, intra- and extra-oral images, TRIOS® intraoral scans, T-scan™, panoramic x-rays,
cephalometric x-rays, and cone beam computed tomography (CBCT).

2.2. Grading of Parry Romberg

All patients were graded according to following criteria. Morphea is a unilateral linear scleroderma of the frontoparietal
region. Mild Parry Romberg syndrome: presence of soft tissue atrophy in one trigeminal area of the lower face without
rotation of the occlusal plane. Moderate Parry Romberg syndrome: more than one trigeminal dermatome is involved as well
as the nasal ala, with a deviation of the oral commissure; the occlusal plane remains more or less horizontal and bony atrophy
is not apparent. Severe Parry Romberg syndrome: rotation of the occlusal plane with atrophy of the skeletal framework
involving the maxilla, mandible and zygoma; chin and nose deviate to the affected side.

2.3. Three-dimensional cephalometry

After the follow-up consultation, DICOM files from the CBCT images were extracted and analyzed using Materialise
Mimics® 20. Three-dimensional anatomical landmarks were marked according to Swennen et al. [2]. Symmetry analysis was
performed using the methods from Gateno et al. (2011) defining the intrinsic symmetry of the maxilla and mandible [3]. The

Fig. 1. Patient selection and study recruitment flowchart. (NOT IN COLOR).

 F. Van der Cruyssen et al. / Oral and Maxillofacial Surgery Cases 4 (2018) 73e83 75

maxillary dental arch was measured as the difference between two base angles located at the first molars. In the mandible, we
defined two triangles; the mandibular dental arch triangle and the mandibular basal bone triangle (Fig. 2). Unilateral volumes
were calculated for the maxilla, body of the mandible, and ramus of the mandible. The ramus and body were separated using
the techniques described by Ko et al. (2017) [4]. The maxilla was separated into a left and right part by two cutting planes; one
connecting the two posterior maxillary points (PmP right and PmP left) and the anterior nasal spine (ANS), and the other
plane connects the ANS, posterior nasal spine (PNS), and upper incisors embrasure (UIE). All volumes were calculated after
creating an edentulous 3-dimensional model. Measurements were compared between the normal and affected sides using
the two sample t-test. A P value of less than 0.05 was considered statistically significant. All data was analyzed using SPSS for
Windows, version 24.0 (SPSS Inc. Chicago, IL, USA).

2.4. Quality of life

Subsequently, an online quality of life (QoL) study was conducted using the Ferrans and Powers Generic Quality of Life
Index (FaP GQLI), version III, translated into Dutch. The FaP GQLI assesses various aspects including overall QoL, health and
functioning, a psychological and spiritual domain, social and economic domain, and family [5].

2.5. Literature review

A literature search was conducted of the following databases: Medline, Trip, Scopus, and EMBASE. The following search
terms were used: Parry Romberg syndrome, hemifacial atrophy, facial muscular wasting, facial scleroderma, and facial lip-
odystrophy. Original articles and review articles were included, and the reference lists of included articles were manually
screened for relevant articles.

3. Results

Between 2006 and 2016, we encountered 10 patients with a diagnosis of Parry Romberg syndrome. All but two patients
responded to the request for a follow up, and 6 patients returned for a visit and agreed to participate in the study (Fig. 1). Two
patients agreed to participate without a follow-up consultation. Five patients agreed to participate in the quality of life study
(Table 1). All patient characteristics and treatments are summarized in Tables 2 and 3 according to severity.

Fig. 2. Intrinsic symmetry measurements. The maxillary dental arch is formed by connecting the upper central incisor middle to the mesiobuccal cusps of the
upper first molars and comparing the basal angles. The mandibular dental arch is comparable to the maxillary dental arch, connecting the middle of the lower
central incisors with the mesiobuccal cusps of the lower first molars. The mandibular basal bone arch is formed by connecting the gonion on the left and right to
the menton. (IN COLOR).
76 F. Van der Cruyssen et al. / Oral and Maxillofacial Surgery Cases 4 (2018) 73e83

Table 1
Patient participation in the different aspects of this study. QoL: Quality of Life. FaP GQLI: Ferrans and Powers Generic Quality of Life Index.

Case# Return for follow-up visit Included in 3D Cephalometry Included in subjective QoL Included in FaP GQLI
Mild parry romberg syndrome
1 7 7 ✓ 7
2 ✓ ✓ ✓ ✓
Moderate parry romberg syndrome
3 7 7 ✓ 7
4 7 7 ✓ 7
Severe parry romberg syndrome
5 ✓ ✓ ✓ ✓
6 ✓ ✓ ✓ ✓
7 ✓ ✓ ✓ ✓
8 7 7 ✓ 7
9 ✓ ✓ ✓ ✓
10 ✓ ✓ ✓ 7

3.1. Mild Parry Romberg syndrome

Two patients were categorized as mild. The first patient presented at the age of 23 years with generalized scleroderma of
the right face, spasms of the jaw musculature, and limited mouth opening. Carbamazepine was started for the muscle spasms,
and botulinum toxin injections are currently being performed every 3 months by her neurologist, with acceptable results. No
surgical procedures have been performed apart from a small esthetic correction of the left ear lobe. Subjectively, she was
satisfied with the functional and esthetic outcome. She did not want to complete the QoL questionnaire. The second patient
presented at the age of 47 years, complaining of difficulty playing the trumpet due to loss of muscular strength in his upper
lip. At first, he did not recognize the progressive facial asymmetry; however, his colleagues pointed it out to him. Lipofilling of
the perioral region was performed. After three years, stabilization occurred and his muscular strength was regained, allowing
him to continue his musical career. There were no aesthetic complaints.

3.2. Moderate Parry Romberg syndrome

Two patients were diagnosed with moderate disease. One female noticed progressive atrophy of the right perioral and
chin area. She was treated with a silicon implant of the right chin with unsatisfactory results. An anterolateral thigh flap was
performed after removal of the silicon chin implant, providing a stable and satisfactory outcome. Another patient suffering
from moderate disease, a 34-year-old fighter pilot, presented at the age of 18 years with esthetic concerns of the right
masseteric region. Bony involvement was minimal and neutral occlusion was observed. After consultation and follow-up, the
patient did not pursue further surgical treatment and was lost to follow-up.

3.3. Severe Parry Romberg syndrome

The first female patient with severe Parry Romberg syndrome was referred for an orthodontic evaluation, and to await
disease stabilization. Further progression to severe Parry Romberg syndrome required a bi-coronal approach, with orbital
reconstruction, zygoma advancement of 12 mm (donut osteotomy), bone augmentation of the upper canine area, and
zygomatic arcus using a right iliac crest graft combined with allogenic bone graft at the age of 12 years. Five months later, the
osteosynthesis material was removed. At the age of 13 years, an inverted L-osteotomy was performed through a Risdon
approach using a costal graft. One year later, the planned Le Fort two-piece with onlay alloplastic human femoral head of the
mandible angle and body was postoperatively complicated by infections, which required two more procedures to remove the
osteosynthesis material and bone sequesters. A chronologic overview is presented in Fig. 3. Severe neuropathic pain
developed, with psychological decompensation requiring several admissions. The patient is currently being followed-up with
a conservative approach. Esthetic corrections will be needed in the future. Overall, she is satisfied with the current functional
and esthetic outcome. The second patient was a 36-year-old female who was diagnosed at the age of 13 years with pro-
gressive hemifacial atrophy resulting in left-sided temporomandibular joint pain. On clinical examination, a class II maloc-
clusion with long face syndrome, gummy smile, and occlusal plane canting was observed. At the age of 23 years, a Le Fort I
osteotomy with a bilateral sagittal split osteotomy advancement was performed to correct the bony asymmetry followed by a
free scapular flap one year later. The latter procedure was complicated by a partial dehiscence for which a new procedure was
required. Two years after the initial osteotomies, a genioplasty augmented with a rib allograft and lipofilling of the left
subcutaneous tissues was performed. Postoperatively, the allograft became superinfected, requiring removal of the graft and
plate-and-screw fixation material. Six years after her initial presentation, the patient was lost in follow-up. On the follow-up
consultation for this study, it became apparent that more lipofilling and botulinum toxin infiltrations were performed abroad.
The patient now experiences severe neuropathic pain and has a poor aesthetic and functional outcome. Another patient
presented at the age of 12 years with morphea en coup de sabre and a malocclusion. At the age of 14 years, the disease
Table 2
Case analysis overview sorted by severity. F: female. M: Male. R: right. L: left. S: satisfied. U: unsatisfied.

Case # Gender Current Age of first Months Affected Presenting complaint Dermatologic findings Dental findings Orbital Associated Neurological
(F/M) age symptoms of follow side findings pathology conditions
(years) (years) up
MILD PARRY ROMBERG SYNDROME
1 F 33 23 120 Right Muscular spasms and Frontal and paranasal skin Premature loss of lower first None

F. Van der Cruyssen et al. / Oral and Maxillofacial Surgery Cases 4 (2018) 73e83
scleroderma of infraorbital atrophy, hyperpigmentaton molar and premolar due to
region with limited mouth perioral and frontal region trismus
opening
2 M 52 47 60 Left Loss muscular tone upper lip Loss muscular tone upper lip Limited occlusal canting to None None
contralateral side
MODERATE PARRY ROMBERG SYNDROME
3 F 56 22 324 Right Soft tissue atrophy lower face Skin atrophy of paranasal and None None
perioral region
4 M 34 18 144 Right Facial asymmetry Skin atrophy masseteric region None None
SEVERE PARRY ROMBERG SYNDROME
5 F 16 7 108 Right Morphea frontal and paranasal Hyperpigmentation starting in Delayed tooth eruption of Enophthalmos Positive for
region frontal and para-nasal area upper jaw antinuclear
Morphea en coup de sabre Gingival scarring in right upper antibodies
frontal region and lower jaw
Skin atrophy starting frontal, Occlusal canting to
periorbital and paranasal, contralateral side
partial loss of eyebrow
6 F 36 13 192 Left TMJ pain Hyperpigmentation of frontal Gingival scarring in upper jaw, Enophthalmos
and chin region occlusal canting to contralateral
Loss of left eyebrow side
7 F 20 12 96 Right Morphea frontal region Perioral skin atrophy Occlusal canting to None None
Malocclusion contralateral side
8 F 15 10 60 Right Chin deviation Hyperpigmentation buccal and Delayed tooth eruption of Celiac disease, None
angular region upper jaw, occlusal canting to polyarthritis
contralateral side
9 M 28 10 216 Right Slowed eruption lateral incisor, Hyperpigmentation of Slowed eruption lateral incisor, None None
hyperpigmentation hemifacies occlusal canting to contralateral
side
10 F 13 9 48 Left Progressive facial asymmetry Hyperpigmentation of chin, Delayed eruption upper canine, Progressive None None
neck and frontal regions occlusal canting to contralateral enophthalmos
side
Average 7:3 30 17 137 7:3 (R:L)
(F:M)

77
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Table 3
Surgical and medical treatment overview of all cases, complications encountered and subjective scoring of quality of life. F: female. M: Male. R: right. L: left. S:
satisfied. U: unsatisfied. QoL: Quality of Life.

Case # Medical treatment Surgical treatment (age at intervention) Complications QoL

MILD PARRY ROMBERG SYNDROME
1  Carbamazepine None Neuropathic pain Satisfied
 Botulinum toxin infiltrations
of jaw musculature
2 None Lipofilling (50) Satisfied
MODERATE PARRY ROMBERG SYNDROME
3 None  Removal silicon implant, right ALT flap (22) None Satisfied
 3 x lipofilling (47,48,49)
4 None None None Satisfied
SEVERE PARRY ROMBERG SYNDROME
5  Methotrexate  Orbital reconstruction, zygoma advancement, Surinfections, neuropathic pain, Satisfied
 Corticosteriods bone augmentation (12) psychological decompensation,
 Calcipotriol  Inverted L-osteotomy with costal graft (13) limited mouth opening
 Le Fort I two-piece with allograft and bone
augmentation (14)
6  Le Fort I intrusion, BSSO advancement (15) Wound dehiscence, surinfection Unsatisfied
 Free scapular flap (15) neuropathic pain, limited mouth
 Genioplasty, lipofilling (16) opening
 Left mandibular angle augmentation with
cranial bone graft (19)
7 None Bimaxillary osteotomy (14) None Satisfied
8 None Planned for distraction osteogenesis None Unsatisfied
9  Genioplasty with iliac grest bone graft (21) None Satisfied
 Lipofilling (22)
10 None Planned for lipomyocutaneous flap and None Unsatisfied
osteotomy

progression halted and bimaxillary orthognathic surgery was performed without postoperative relapse or complications.
There were no associated neurological symptoms. The patient is in follow-up and very satisfied with the esthetic and
functional outcomes.
Patient eight was referred to us at the age of 10 years with atrophy of the soft and hard tissues. Her main complaint was
chin deviation. At presentation, her medical history revealed other autoimmune-triggered diseases; celiac disease and pol-
yarthritis. She was diagnosed with severe Parry Romberg syndrome. Currently, further progression has occurred. Conse-
quently, we await disease stabilization to proceed with orthognathic and reconstructive surgery.
Case nine was referred to us with delayed eruption of the upper right lateral incisor and hyperpigmentation of the right
face. Progressive atrophy of the soft tissues, with a striking hyperpigmentation, was seen during follow-up. Chin asymmetry
was the main complaint of this young male for which a genioplasty using a right iliac bone graft was performed at the age of
21 years. One year later, lipofilling of the right chin and infraorbital region further enhanced the soft tissue atrophy, with a
satisfactory result. He underwent extensive dental rehabilitation to correct his malocclusion. Canting of the occlusal plane
remained apparent; however, it was not debilitating to the patient.
The last case was seen in consultation with the orthodontic clinic at the age of 9 years with progressive left facial
asymmetry and delayed eruption of the left upper canine. No associated symptoms were present. She was diagnosed with
severe active Parry Romberg syndrome. Reconstruction of the bony framework and soft tissues, probably with a lip-
omyocutaneous transfer, will be needed in the future after disease stabilization.

3.4. Three-dimensional cephalometrics and volumetrics

Three-dimensional cephalometry of CBCT imaging was conducted, comparing the affected side to the non-affected side in
the 6 patients who returned for a follow-up visit (Table 1). Special attention was given to the intrinsic symmetry of the bony
framework, comparing the maxillary dental arch, mandibular dental arch and basal bone arch, ramus length, mandible body
length, total body length, ramus volume, mandible body volume, maxillary volume, gonial angle, zygion to nasion distance
(Zy-N), and frontozygomatic suture medial margin to nasion (Z-N). None of the compared measurements were significantly
different from the non-affected side except for maxillary volume and mandibular body length, suggesting a reasonable
symmetry at follow-up (Table 4). Small sample size and important inter-individual differences in age, disease severity, and
treatment does not allow for further statistical analysis.
 F. Van der Cruyssen et al. / Oral and Maxillofacial Surgery Cases 4 (2018) 73e83 79

Fig. 3. Chronological events for the fifth case, with representation of the soft and hard tissues. HOS RE: hospitalization in the department of rheumatology. ORD:
first consultation at the orthodontic department. PSY: first consultation at the psychology department. R/: treatment. MTX: methotrexate. MECDS: morphea en
coup de sabre. (IN COLOR).

3.5. Quality of life

Seven out of ten patients reported being generally satisfied with their QoL (Fig. 4). Three patients reported that they were
unsatisfied. In total, five patients completed the FaP GQLI questionnaire (Table 1). Three out of four patients (patients 5, 7, 9)
with severe disease who participated in the FaP GQLI, reported an overall score greater than 20. All but one patient reported
their lowest score on psychological functioning. Patient nine scored lowest on socio-economic QoL, followed by psychological
QoL.
One of the three unsatisfied patients (patient 6), with severe disease, participated in the FaP GQLI questionnaire scoring
overall 17.4 out of 30. She scored lowest on the psychological (15.3) and functional (16.6) domains. Patient 5, with severe Parry
Romberg syndrome, reported an overall score of 21.4, with the lowest score on psychological functioning (19.2 out of 30). Two
other patients with severe Parry Romberg syndrome (cases 7 and 9) and one patient with mild Parry Romberg syndrome (case
2) all reported overall QoL scores greater than 20.

4. Discussion

Parry Romberg syndrome is a rare disease, with an estimated prevalence of 1 out of 700.000 people. It affects three times
more women than men. Fifty percent of all patients present at around the age of 10 years; however, 8% of all cases are seen
80 F. Van der Cruyssen et al. / Oral and Maxillofacial Surgery Cases 4 (2018) 73e83

Table 4
Three-dimensional cephalometrics and volumetrics comparing the affected side to the nonaffected side at the follow-up consultation.a P < 0.05. SD: standard
deviation.

Mean SD 95% confidence interval of P value

the difference

Lower Upper
Ramus length (mm) 5.12 5.08 0.21 10.45 0.06
Body length (mm) 4.27 3.92 0.16 8.38 0.04a
Total mandibular length (mm) 3.69 5.55 2.13 9.52 0.16
Ramus volume (mm3) 291.89 2353.56 2178.01 2761.80 0.77
Mandibular body volume (mm3) 500.78 1471.05 1043.00 2044.55 0.44
Maxillary volume (mm3) 1555.32 1387.53 99.20 3011.43 0.04a
Maxillary dental arch ( ) 0.65 2.52 3.30 1.99 0.55
Mandibular dental arch ( ) 0.79 4.63 5.65 4.07 0.69
Mandibular bone base angle ( ) 3.11 6.44 9.87 3.66 0.29
Gonial angle ( ) 6.41 7.43 14.21 1.38 0.09
Medial margin frontozygomatic suture to nasion (mm) 1.03 3.34 2.48 4.54 0.48
Zygion to nasion (mm) 0.62 4.89 4.51 5.75 0.77

after the age of 25 years [1]. In this study population, 10 patients were diagnosed with Parry Romberg syndrome of whom 7
were females and 3 were males, only one patient presented after the age of 25 years. The average follow-up period for pa-
tients was 11 years.
The etiology is still largely unknown, but it is believed to have an autoimmune pathogenesis sometimes triggered by an
event such as trauma or a viral infection [6]. Two cases had an autoimmune character. The fifth patient tested positive for
antinuclear antibodies, and case 8 presented with celiac disease and polyarthritis. Both patients developed a severe form of
Parry Romberg syndrome. The disease slowly progresses over time, but tends to stabilize after an average of seven years. The
diagnosis is made on a clinical basis, but can be further supported by imaging and skin biopsy [7e11].
In some cases, the first symptom represents morphea en coup de sabre (cases 5 and 7), which is a unilateral frontal or
frontoparietal impression of skin and underlying tissues, with scarring of the dermis. The overlying skin can be hyperpig-
mented; however, this is not seen in all patients.
Intra-orally, the main features are delayed tooth eruption on the affected side, which was seen in 4 of our cases, and a
unilateral upwards and backward movement of the mandible causing a rotation of the occlusal plane, which was seen in 7 of
our cases. Scarring of the gingiva is common and was seen in two cases in this series [12,13].
When the disease is more severe, enophthalmos and subsequent ocular movement impairment can be present. Cases in
which an eye was lost have been reported [14]. Our fifth case showed severe enophthalmos; however, she did not experience

Fig. 4. Quality of Life (QoL) measured subjectively and objectively using the Ferrans and Power index, with subscales, in ten cases of Parry Romberg syndrome.
Cases 1, 3, 4, 8 and 10 did not participate in the Ferrans and Power questionnaire. Fam: family. Psych/spir: psychological and spiritual subscale. SocEco: so-
cioeconomic subscale. Hlth/Func: health and functioning subscale. (IN COLOR).
 F. Van der Cruyssen et al. / Oral and Maxillofacial Surgery Cases 4 (2018) 73e83 81

visional dysfunction. Cases 6 and 10 also presented with enophthalmos without functional impairment. Some other mani-
festations include seizure disorder, neuropathies, and scleroderma of the trunk or limbs. No neurological conditions were
seen within this patient population or scleroderma of other body parts apart from the facial region.
Parry Romberg syndrome positions itself on the upper right of a spectrum, and morphea en coup de sabre is on the left side
of the spectrum. The overlying pathology is thought to be linear scleroderma as morphea, and Parry Romberg seems to have
the same histological findings; as such, Parry Romberg syndrome can be categorized [15]. Multiple definitions in the literature
are used, none of which are verified or accepted. All patients in this study were graded according to criteria mentioned under
materials & methods (Fig. 5). In this case series, 6 of 10 cases were classified as severe, two as moderate, and two as mild.
Most patients are started on a local or systemic immunosuppressants corresponding to the disease's autoimmune etiology.
Initial treatment can include corticosteroids combined with methotrexate because of the slow onset of the therapeutic effect
of methotrexate (Fig. 6). One patient received immunosuppressive agents because a clear autoimmune component was
present (ANA positive).
After stabilization and in consultation with the patient, fat grafts are a valid option for mild to moderate Parry Romberg
syndrome. Recent research has added the option of stem cell-enriched fat grafts, which should reduce fat absorption and the
re-intervention rate. However, none of the patients presented here underwent a similar procedure [16].
Fat grafts in general have gained importance in the literature because it is a less invasive technique with good esthetic
results, and can even be added during disease progression to counter the psycho-social impacts [17]. One study even reported
beneficial effects of fat grafts on the rate of progression [18]. Because most patients at this tertiary center presented in a
moderate to severe state of disease, more extensive surgery was indicated. One patient was treated with only lipofilling,
resulting in a very satisfactory outcome (case 2).
When bone atrophy is present, orthodontic and orthognathic interventions should be considered. Unilateral distractions
or split osteotomy followed by maxilla correction are common treatment options. Autologous or allogenic bone grafts are
almost always needed. The ideal timing is after disease stabilization [15].
When the soft tissue defect is severe, a buried pedicle or free flap reconstruction can be performed. ALT and scapular flap
reconstructions are the best options according to the literature [19]. One of our cases was treated with a scapular flap, and
another with an ALT flap. More infections and neuropathic pain complications were observed compared to our experience in
non-syndromic orthognathic and reconstructive surgery. This could be due to multiple factors; poorly vascularized tissues
that lack elasticity, use of allografts and foreign osteosynthesis plates and screws in a possible autoimmune-triggered areas,
multistep surgery, and underreporting in the current literature. Maxillofacial surgeons are warranted and providers should
preferably refer their patients to experienced centers when a multistep surgical plan is considered.

Fig. 5. General classification of Parry Romberg syndrome allowing patients to be categorized and aiding in treatment options. Morphea en coup de sabre consists
of unilateral linear scleroderma, usually presenting in the frontal region. Mild Parry Romberg syndrome consists of soft tissue atrophy in one trigeminal area of
the lower face without rotation of the occlusal plane. Moderate Parry Romberg affects more than one trigeminal dermatome as well as the nasal ala, with a
deviation of the oral commissure. The occlusal plane remains more or less horizontal and bone atrophy should not be apparent. Severe Parry Romberg syndrome
consists of a rotated occlusal plane with atrophy of the skeletal framework involving the maxilla, mandible, and zygoma. The chin and nose deviate to the affected
side. (IN COLOR).

Fig. 6. Treatment options depend on the severity of disease and are timed according to disease progression. (NOT IN COLOR).
82 F. Van der Cruyssen et al. / Oral and Maxillofacial Surgery Cases 4 (2018) 73e83

4.1. Three-dimensional analysis of six cases

Six patients returned for a follow-up visit (Table 1) allowing for a three-dimension cephalometry and measurement of the
maxillary and mandibular bony volumes and distances (Table 4). All six cases were considered severe except case 2, who
presented with mild Parry Romberg syndrome. Despite the small sample size and wide confidence intervals for most
measurements, the mandibular body length was significantly shorter on the affected side compared to the non-affected side
(mean difference, 4.27 mm [95% confidence interval (CI) 0.16e8.38], P ¼ 0.04). The maxillary volume on the affected side was
significantly lower than the non-affected side (mean difference 1555.32 mm3 [95% CI 99.17e3011.43], P ¼ 0.04). This could
illustrate an unilateral delayed growth of both the mandible and maxilla in severe cases of Parry Romberg syndrome [20].
Intrinsic comparisons of zygomatic measurements (zygion-nasion and frontozygomatic suture to nasion distances) showed
no significant differences.

4.2. Quality of life

Because this is a disfiguring disease, presenting early in life, and during adolescence, one can argue that patients undergo
psychological stress, possibly compromising several aspects of daily life functioning. Surgical interventions and possible
complications can further compromise patients' QoL. Seven out of ten patients reported being satisfied with their current
aesthetic and functional outcomes; however, three patients (cases 6, 8, and 10) reported that they were unsatisfied with their
living situation, all of whom had severe Parry Romberg syndrome. Case 6, who reported being unsatisfied, underwent
orthognathic and reconstructive surgery with use of autologous grafts, eventually experiencing neuropathic pain. On the FaP
GQLI questionnaire, she scored low on all aspects of the index, especially on the health/functioning (16.6/30) and psycho-
logical/spiritual (15.3/30) domains. Cases 8 and 10, both females, had not yet received any treatment. They did not complete
the FaP GQLI questionnaire. Case 5, who also experienced neuropathic pain and limited mouth opening, reported satisfaction
with QoL, with an overall score of 21.4/30. This case's lowest score was in psychological functioning (19.2/30). She started with
psychological counseling early after her diagnosis. Cases 2 and 7, who had mild and severe Parry Romberg syndrome,
respectively, show an overall QoL index greater than 20; however, they both had lowest scores on the health, functioning, and
psychological domains.
Time of onset, surgical complications, and development of neuropathic pain can play a major role in QoL. Therefore, it is
paramount that psychological counseling is provided early on before, throughout, and after disease progression.

5. Conclusion

The retrospective nature, wide time frame, and limited sample size are major limitations in this cohort study. However, it is
a well-documented series with long-term results for patients with a very low-incidence pathology. Based on the results of this
long-term, 11-year, retrospective cohort analysis of 10 patients with Parry Romberg syndrome, we feel that disease stabili-
zation should be the first step after diagnosis. A multidisciplinary approach should allow for a patient-specific treatment plan,
with psycho-social support being of primary importance throughout and after disease progression. Most patients can benefit
from conservative management or minimally invasive fat grafting techniques. However, treatment need should be decided on
a case-by-case basis. No complications were seen after autologous fat grafts or small facial corrections. Though orthognathic
treatment is impeded by dental and skeletal malformations, a decent and stable orthodontic result can sometimes be
managed, allowing for an occlusal canting. Soft tissue flap reconstructions and orthognathic procedures with use of grafts had
a considerable complication rate. Satisfactory QoL was achieved in most patients; however, patients with severe Parry
Romberg syndrome are at risk for a lower QoL, especially in the functional and psychological domains.

Acknowledgements

The authors report that they have no conflict of interest.

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