Perry-Romberg Syndrome
Parry Romberg sendromu (PRS) süperfisiyal fasial dokuyu, alttaki kas, kartilaj ve kemiği etkileyebilen atrofik bir displazidir. Etyolojisi belli değildir. Hastalık genelde yanak, alın ve çene üzerinde gelişir.
CASE REPORT
JEADV (2005) 19, 740–742
Blackwell Publishing, Ltd. Parry–Romberg syndrome in association with anti-dsDNA
antibodies: a case report
M Gonul,† B Dogan,‡ Y Izci,*§ G Varol‡
†Department of Dermatology, Numune Research and Training Hospital, Ankara, ‡Departments of Dermatology and §Neurosurgery, Maresal Cakmak
Military Hospital, Erzurum, Turkey, *Corresponding author: Gulhane Askeri Tıp Akademisi, Beyin ve Sinir Cerrahisi AD, 06010
Etlik-Ankara Turkey, tel. +90 532 501 39 05; fax +90 312 304 53 00; E-mail: yusufizci@yahoo.com
ABSTRACT
Parry–Romberg syndrome (PRS) is a rare and puzzling disorder that is characterized by progressive hemifacial atrophy. It involves mainly some or all tissues of one side of the face. A case of 21-year-old Caucasian man
with hemifacial atrophy in the right facial region is reported. Serological studies with anti-single-stranded
DNA (anti-ssDNA), anti-double-stranded DNA (anti-dsDNA), anticentromere (ACA) and antinuclear
(ANA) antibodies were done. Anti-dsDNA antibodies was found positive, but the others were negative.
Rheumatoid factor (RF) was also negative. Since PRS is rare and its association with anti-dsDNA antibodies
was not reported before, this case appears to be the first report.
Key words: anti-dsDNA, Parry–Romberg syndrome
Received: 16 February 2004, accepted 2 November 2004
Introduction
Parry–Romberg syndrome (PRS), originally described by Parry
(1825) and Henoch and Romberg (1846), consists of slowly
progressive atrophy of the soft tissues of essentially half of the
face, accompanied usually by neurological and ophthalmological
findings.1–3 Evidence of a mendelian basis is lacking. The
presence of autoantibodies in some cases suggested that this
syndrome may be a form of localized scleroderma.4,5
We present a 21-year-old male patient with PRS as characterized
by progressive right hemifacial atrophy associated with antidouble-stranded DNA (anti-dsDNA) antibodies. To our knowledge,
this association was not reported before. The clinical, immunological and pathological features of this rare entity are discussed.
Case report
A 21-year-old male patient was admitted to our hospital for
evaluation of his progressive right facial atrophy of 6 years
duration (fig. 1). His medical history was unremarkable. Review
of his systems was essentially unremarkable. Other physical,
neurological and ophthalmological examinations were normal.
Radiological examination comprising plain X-rays and computed
tomography (CT) scans were within normal limits. Serological
studies by enzyme-linked immunosorbent assay (ELISA)
revealed that anti-dsDNA antibody was positive (= 27.01 U/mL;
normal value ranges 0–20 U/mL), although others including
anti-single-stranded DNA (anti-ssDNA), anticentromere
(ACA) and antinuclear (ANA) were negative. Rheumatoid
fig. 1 The photograph of the face of patient showing the right hemifacial
atrophy.
Parry-Romberg syndrome 741
© 2005 European Academy of Dermatology and Venereology JEADV (2005) 19, 740–742
factor (RF) was also negative. The pathological examination
of his facial skin was made by punch biopsy obtained from
atrophic region. The specimens were stained with haematoxylin
and eosin (H&E) and trichrome dye. The examination revealed
a sclerodermoid tissue reaction as characterized by widened
collagen bundles with loss of the fibrillar architecture with
a concomitant perieccrine and perifollicular lymphocytic
infiltrate (fig. 2a,b).
The patient did not undergo any surgical procedure because
of lesser benefits.
Discussion
Parry–Romberg syndrome is a rare disorder characterized by an
atrophic dysplasia of the superficial facial structures including
the dermal and subcutaneous tissues on one side of the face,
occasionally extending to the other parts of the body. Tissues
involved are the skin, tongue, gingiva, soft palate, the cartilage
of the nose, ear, subcutaneous, larynx, muscle and bone. But the
muscles and bones are seldom involved. It usually begins in the
first two decades and is slowly progressive. In its advanced form,
the face is gaunt and the skin is thin, wrinkled and rather
brown.3 Rarely there is a positive family history.
It is an age-old argument that there is a relationship between
linear scleroderma (LSc) and PRS. PRS and LSc are considered
parts of a clinicopathological spectrum that also includes cases
with features of both diseases. But in morphea, the lesions
usually are limited to the skin and to the subcutaneous tissue
beneath the cutaneous lesions; rarely, however, that the underlying muscles and bones are also affected. In PRS, the atrophy is
deeper than that seen in LSc. The skin is less often bound down.
More extensive involvement of the lower face is another feature
of PRS.6,7
There have been many reports of progressive hemifacial
atrophy and LSc with the presence of autoantibodies and RF.
The most common antibodies encountered in scleroderma
are anti-Scl-70 and ACA antibodies. The intriguing finding of
autoimmune antibodies directed at cellular targets in scleroderma point to a role for antibodies as clinically valuable prognostic indicators. ACA and anti-Scl-70 found in scleroderma
have a 50–80% prevalence with greater than 90% specificity for
CREST (Calsinosis cutis, Raynaud’s phenomenon, Esophageal
dysmotility, Sclerodactyly, Telangiectasia) syndrome and
diffuse systemic sclerosis (dSSc), respectively.8 Adebajo et al.
reported two cases of LSc and hemiatrophy in association
with antibodies to dsDNA in 1992.9 Ruffatti et al. reported
52 patients with localized scleroderma and revealed a significant
prevalence of anti-ssDNA in morphea.10 But the autoantibody
profile of PRS was different from that in localized scleroderma
in one study. Garcia-de la Torre et al. reported ANA positivity
as 57%, RF positivity as 36%, antihistone antibody positivity as
21% and ACA positivity as 14% in their PRS series, and they did
not find any anti-DNA antibody.5 Kayanuma and Oguchi also
reported a case of progressive hemifacial atrophy associated
with the presence of anti-DNA antibody and RF in 1994, but the
atrophy in this case was not limited on one side of the face and
disseminated to the arm.4
Anti-dsDNA was positive and anti-ssDNA, anti-Scl-70, ACA
and RF were negative in our patient. Although anti-dsDNA is a
characteristic finding for systemic lupus erythematosus, we did
not found any clinical sign of this autoimmune disorder in our
patient. The reports mentioned above suggest that there is still
not a clear-cut difference of the autoantibodies between
localized scleroderma and PRS, even though, to our knowledge,
there is not another report about PRS associated with antidsDNA antibodies as in our case.
Skin biopsy of PRS is indistinguishable from that of LSc. The
histopathological characteristics of LSc consist of two stages
fig. 2 (a) The histopathological appearance of the specimen obtained from
the atrophic skin showed normal epidermis and mild mononuclear lymphocyte infiltration in the reticular dermis (H&E, ×25). (b) The histopathological appearance of the specimen obtained from the atrophic skin stained
with trichrome dye showing the fibrosis and mononuclear lymphocyte
infiltration around the eccrine glands (Trichrome, ×100).
742 Gonul et al.
© 2005 European Academy of Dermatology and Venereology JEADV (2005) 19, 740–742
including, early inflammatory and late sclerosis stages. There are
no inflammatory changes in PRS, even in its early stages. The
epidermis is normal. The collagen bundles in the reticular dermis often appear thickened and closely packed and stain more
deeply eosinophilic than in normal skin. The eccrine glands
appears markedly atrophic.11,12 In our patient, we obtained
punch biopsy from the right side of frontal region of the face
and histopathological examination was performed with
haematoxylin and eosin (H&E) and trichrome stains. Mild
mononuclear lymphocyte infiltration was observed in the reticular dermis and around the eccrine glands and hair follicles
obtained from the atrophic site. The collagen bundles were
thickened in the reticular dermis. We used trichrome stain to
demonstrate the collagen fibres because the main value of this
stain is in the evaluation of the type and amount of the extracellular material. The histopathological examination of our
patient’s specimens complied with the PRS.
The associated lesions of PRS vary from the neurological
disorders to ocular complications. Rasmussen syndrome, the
chronic focal encephalitis, is one of the similar syndromes of
Parry–Romberg, which is reported by Straube et al. in 2001.13
The age of onset, unilateral manifestation and occurrence of
focal seizures are the clinical similarities of these two syndromes.
Seizure, migraine and intracranial aneurysm are the most
reported neurological conditions in association with PRS.13,14
Adie’s pupil, enophthalmus, blepharoptosis, loss of cilia, retinal
telangiectasis, shrinkage of the eyeball and thinning of extraocular
muscles are the ophthalmological abnormalities which may be
present with PRS.7,15,16 We examined our patient in detail
and not found any neurological and ophthalmological findings
similar with literature.
In conclusion, PRS is a rare and poorly understood disease
that is difficult to differentiate from the localized scleroderma
with histopathological examination, especially in the late stage.
And nowadays it is also not possible to differentiate two diseases
with the help of autoantibodies because of having common
ones such as anti-dsDNA and limited number of studies.5,9 The
coexistence of these antibodies with PRS may confirm that PRS
and LSc en coup de sabre represent overlapping conditions. In
the view of the fact that observing serological abnormalities
in PRS, it can be offered that this should be an autoimmune
disease that is stimulated by a variety of factors including trauma
and neurological abnormalities in genetically predisposed individuals. But if someone thinks that PRS is a severe localized
scleroderma, this would not be wrong for the time being.
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