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ParryRomberg syndrome

ParryRomberg syndrome (also known as progressive


hemifacial atrophy) is a rare neurocutaneous syndrome
characterized by progressive shrinkage and degeneration
of the tissues beneath the skin, usually on only one side
of the face (hemifacial atrophy) but occasionally extending to other parts of the body.[1] An autoimmune mechanism is suspected, and the syndrome may be a variant
of localized scleroderma, but the precise etiology and
pathogenesis of this acquired disorder remains unknown.
It has been reported in the literature as a consequence of
sympathectomy. The syndrome has a higher prevalence
in females and typically appears between 5 15 years of
age.

lying subcutaneous structures such as connective tissue,


(fat, fascia, cartilage, bones) and/or muscles of one side
of the face.[2] The mouth and nose are typically deviated
towards the aected side of the face.[3]

The process may eventually extend to involve tissues


between the nose and the upper corner of the lip, the
upper jaw, the angle of the mouth, the area around the
eye and brow, the ear, and/or the neck.[2][3] The syndrome
often begins with a circumscribed patch of scleroderma
in the frontal region of the scalp which is associated with
a loss of hair and the appearance of a depressed linear
scar extending down through the midface on the aected
side. This scar is referred to as a coup de sabre lesion
In addition to the connective tissue disease, the condition because it resembles the scar of a wound made by a sabre,
is often accompanied by signicant neurological, ocular and is indistinguishable from the scar observed in frontal
and oral signs and symptoms. The range and severity of linear scleroderma.[4][5]
associated symptoms and ndings are highly variable.
In 20% of cases, the hair and skin overlying aected ar-

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eas may become hyperpigmented or hypopigmented with


patches of unpigmented skin. In up to 20% of cases the
disease may involve the ipsilateral (on the same side) or
contralateral (on the opposite side) neck, trunk, arm, or
leg.[6] The cartilage of the nose, ear and larynx can be
involved. The disease has been reported to aect both
sides of the face in 5-10% of the cases.[4]

Signs and symptoms


Skin and connective tissues

Symptoms and physical ndings usually become apparent during the rst or early during the second decade of
life. The average age of onset is nine years of age,[2] and
the majority of individuals experience symptoms before
20 years of age. The disease may progress for several
years before eventually going into remission (abruptly
ceasing).[2]

1.2 Neurological
Neurological abnormalities are common. Roughly 45%
of people with ParryRomberg syndrome are also aficted with trigeminal neuralgia (severe pain in the tissues supplied by the ipsilateral trigeminal nerve, including the forehead, eye, cheek, nose, mouth and jaw) and/or
migraine (severe headaches that may be accompanied by
An axial CT scan of a 17-year-old girl with ParryRomberg syn- visual abnormalities, nausea and vomiting).[6][7]
drome, showing severe loss of subcutaneous tissue and muscle of
the right side of the face, with no apparent involvement of the
facial bones

10% of aected individuals develop a seizure disorder as part of the disease.[6] The seizures are typically
Jacksonian in nature (characterized by rapid spasms of a
muscle group that subsequently spread to adjacent muscles) and occur on the side contralateral to the aected
side of the face.[2] Half of these cases are associated with
abnormalities in both the gray and white matter of the

Initial facial changes usually involve the area of the face


covered by the temporal or buccinator muscles. The disease progressively spreads from the initial location, resulting in atrophy of the skin and its adnexa, as well as under1

HISTORY

brainusually ipsilateral but sometimes contralateral 3 Diagnosis


that are detectable on magnetic resonance imaging (MRI)
scan.[6][8]
Diagnosis can be made solely on the basis of history and
physical examination in people who present with only facial asymmetry. For those who report neurological symp1.3 Ocular
toms such as migraine or seizures, MRI scan of the brain
is the imaging modality of choice. A diagnostic lumbar
Enophthalmos (recession of the eyeball within the orbit) puncture and serum test for autoantibodies may also be
is the most common eye abnormality observed in Parry indicated in people who present with a seizure disorder
Romberg syndrome. It is caused by a loss of subcu- of recent onset.[6]
taneous tissue around the orbit. Other common ndings include drooping of the eyelid (ptosis), constriction
of the pupil (miosis), redness of the conjunctiva, and
4 Management
decreased sweating (anhidrosis) of the aected side
of the face. Collectively, these signs are referred to
as Horners syndrome. Other ocular abnormalities in- 4.1 Medical
clude ophthalmoplegia (paralysis of one or more of
the extraocular muscles) and other types of strabismus, Medical management may involve immunosuppressive
drugs such as methotrexate,
corticosteroids,
uveitis, and heterochromia of the iris.[9][10]
cyclophosphamide, and azathioprine. No randomized
controlled trials have yet been conducted to evaluate
such
treatments, so the benets have not been clearly
1.4 Oral
established.[6]
The tissues of the mouth, including the tongue, gingiva,
teeth and soft palate are commonly involved in Parry
Romberg syndrome.[3] 50% of aected individuals develop dental abnormalities such as delayed eruption, dental root exposure, or resorption of the dental roots on the
aected side. 35% have diculty or inability to normally open the mouth or other jaw symptoms, including temporomandibular joint disorder and spasm of the
muscles of mastication on the aected side. 25% experience atrophy of one side of the upper lip and tongue.[6]

4.2 Surgical

Aected individuals may benet from autologous fat


transfer or fat grafts to restore a more normal contour
to the face. However, greater volume defects may require microsurgical reconstructive surgery which may involve the transfer of an island parascapular fasciocutaneous ap or a free ap from the groin, rectus abdominis
muscle (Transverse Rectus Abdominis Myocutaneous or
TRAM ap) or latissimus dorsi muscle to the face. Severe deformities may require additional procedures, such
as pedicled temporal fascia aps, cartilage grafts, bone
2 Causes
grafts, orthognathic surgery, and bone distraction.[12] The
The fact that some people aected with this disease timing of surgical intervention is controversial; some surits course[3]
have circulating antinuclear antibodies in their serum geons prefer to wait until the disease has run[13]
supports the theory that ParryRomberg syndrome may while others recommend early intervention.
be an autoimmune disease, specically a variant of localized scleroderma.[11] Several instances have been reported where more than one member of a family has been 5 Epidemiology
aected, prompting speculation of an autosomal dominant inheritance pattern. However, there has also been at ParryRomberg syndrome appears to occur randomly
least one report of monozygotic twins in which only one and for unknown reasons. Prevalence is higher in females
of the twins was aected, casting doubt on this theory. than males, with a ratio of roughly 3:2. The condition is
Various other theories about the etiology and pathogen- observed on the left side of the face about as often as on
esis have been suggested, including alterations in the pe- the right side.[14]
ripheral sympathetic nervous system (perhaps as a result
of trauma or infection involving the cervical plexus and/or
the sympathetic trunk), as the literature reported it following sympathectomy, disorders in migration of cranial 6 History
neural crest cells, or chronic cell-mediated inammatory
process of the blood vessels. It is likely that the disease re- The disease was rst described in 1825 by Caleb Hillier
sults from dierent mechanisms in dierent people, with Parry (1755 1822), in a collection of his medical
writings which were published posthumously by his son
all of these factors potentially being involved.[2]

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Charles Henry Parry (1779 1860).[15] It was described a
second time in 1846 by Moritz Heinrich Romberg (1795
1873) and Eduard Heinrich Henoch (1820 1910).[16]
German neurologist Albert Eulenburg (1840 1917) was
the rst to use the descriptive title progressive hemifacial
atrophy in 1871.[17][18][19]

In culture

The disease is also featured in an episode of Mystery


Diagnosis on the Discovery Health channel, Nichole
Beavers, who has ParryRomberg syndrome, shared her
true story of how she was diagnosed with it.

Additional Images
A 3D, soft tissue reconstruction of a CT scan of a
17 year old girl with Parry Romberg syndrome.
CT scan3D bone reconstruction of a 17 year old girl
with Parry Romberg syndrome.

See also
Hemifacial microsomia
List of cutaneous conditions
Trigeminal trophic lesion

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References

[1] Sharma M, Bharatha A, Antonyshyn O, Aviv RI,


Symons SP (February 2012).
Case 178: ParryRomberg syndrome. Radiology 262 (2): 721725.
doi:10.1148/radiol.11092104.
[2] Gorlin, RJ; Cohen, MM; Hennekam, RCM (2001).
Chapter 24: Syndromes with unusual facies: well-known
syndromes. Syndromes of the head and neck (4th ed.).
New York: Oxford University Press. pp. 9771038.
ISBN 0-19-511861-8.
[3] Saraf, S (2006). Chapter 3: Developmental disorders of
oral and paraoral structures. Textbook of oral pathology.
New Delhi: Jaypee Brothers Medical Publishers Ltd. pp.
3176. ISBN 81-8061-655-X.
[4] Saraf, S (2006). Features of syndromes and conditions
aecting oral and extra oral structures. Textbook of oral
pathology. New Delhi: Jaypee Brothers Medical Publishers Ltd. pp. 54754. ISBN 81-8061-655-X.
[5] Wartenberg,
R (1945).
Progressive facial hemiatrophy (abstract)".
Archives of
Neurology and Psychiatry 54 (2):
7597.
doi:10.1001/archneurpsyc.1945.02300080003001.

[6] Stone, J (2006). Neurological rarity: Parry-Romberg


syndrome (PDF). Practical Neurology 6 (3): 1858.
doi:10.1136/jnnp.2006.089037.
[7] parry_romberg at NINDS
[8] Leo, M; da Silva, ML (1994). Progressive hemifacial atrophy with agenesis of the head of the caudate
nucleus. Journal of Medical Genetics 31 (12): 969
71. doi:10.1136/jmg.31.12.969. PMC 1016702. PMID
7891383.
[9] Muchnik, RS; Aston SJ; Rees TD (1979). Ocular manifestations and treatment of hemifacial atrophy. American Journal of Ophthalmology 88 (5): 88997. PMID
507167.
[10] Wolf, SM; Verity, MA (1974). Neurological complications of progressive facial hemiatrophy. Journal of Neurology, Neurosurgery and Psychiatry 37 (9): 9971004.
doi:10.1136/jnnp.37.9.997. PMC 494830.
[11] Lewkonia, RM; Lowry, RB; Opitz, JM (1983). Progressive hemifacial atrophy (Parry-Romberg syndrome):
report with review of genetics and nosology. American Journal of Medical Genetics 14 (2): 38590.
doi:10.1002/ajmg.1320140220. PMID 6601461.
[12] Iigo, F; Jimenez-Murat Y; Arroyo O; Fernandez M;
Ysunza A (2000). Restoration of facial contour in
Rombergs disease and hemifacial microsomia: Experience with 118 cases. Microsurgery 20 (4): 16772.
doi:10.1002/1098-2752(2000). PMID 10980515.
[13] University of Wisconsin Hospitals and Clinics Authority
(2011-05-17). UW health surgeon reconstructs young
girls face. News for referring physicians. Madison, Wisconsin: University of Wisconsin Hospitals and Clinics
Authority. Retrieved 2011-08-02.
[14] Rogers, BO (October 1318, 1963). Progressive facial hemiatrophy (Rombergs diseases): a review of 772
cases. In Broadbent TR, Anderson B. Transactions of
the third international congress of plastic surgery (International Congress Series No. 66). Third International
Congress of Plastic Surgery. Amsterdam: Excerpta Medica. pp. 6819.
[15] Parry, CH (1825). Parry, CH, ed. Collections from the unpublished medical writings of the late Caleb Hillier Parry,
M.D., F.R.S. 1. London: Underwoods. pp. 47880.
[16] Romberg, MH; Henoch, EH (1846). Krankheiten des
nervensystems (IV: Trophoneurosen)". Klinische ergebnisse (in German). Berlin: Albert Frstner. pp. 7581.
[17] Eulenburg, A (1871). Hemiatrophia facialis progressiva. Lehrbuch der functionellen nervenkrankheiten auf
physiologischer basis (in German). Berlin: Verlag von August Hirschwald. pp. 71226.
[18] synd/1285 at Who Named It?
[19] Cory RC, Clayman DA, Faillace WJ, McKee SW, Gama
CH (1997). Clinical and radiologic ndings in progressive facial hemiatrophy (Parry-Romberg syndrome)".
AJNR Am J Neuroradiol 18 (4): 7517. PMID 9127045.

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Further reading

Karim, A; Laghmari M; Ibrahimy W; Essakali HN;


Mohcine Z (2005). Neuroretinitis, Parry-Romberg
syndrome, and scleroderma. Journal of French
Ophthalmology (in French) 28 (8): 86670. PMID
16249769.
Lakhani, PK; David, TJ (1984). Progressive hemifacial atrophy with scleroderma and ipsilateral limb
wasting (Parry-Romberg syndrome)". Journal of the
Royal Society of Medicine 77 (2): 1389. PMC
1439690. PMID 6737396.
Larner, AJ; Bennison, DP (1993). Some observations on the aetiology of progressive hemifacial atrophy (Parry-Romberg syndrome)". Journal of Neurology, Neurosurgery and Psychiatry 56 (9): 1035
6. doi:10.1136/jnnp.56.9.1035-a. PMC 489747.
PMID 8410030.
Miller, MT; Spencer, MA (1995). Progressive
hemifacial atrophy. A natural history study. Transactions of the American Ophthalmological Society
93: 20315. PMC 1312058. PMID 8719679.
Pinheiro, TP; Silva CC; Silveira CS; Botelho PC;
Pinheiro MG; Pinheiro Jde J (2006). Progressive
Hemifacial Atrophy--case report. Med Oral Patol
Oral Cir Bucal 11 (2): E1124. PMID 16505785.
Zafarulla, MY (1985). Progressive hemifacial atrophy: a case report. British Journal of Ophthalmology 69 (7): 5457. doi:10.1136/bjo.69.7.545.
PMC 1040666. PMID 4016051.

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External links

Progressive hemifacial atrophy; Parry-Romberg


syndrome at NIH's Oce of Rare Diseases
The Rombergs Connection: an international support group for individuals and families whose lives
are aected by ParryRomberg syndrome
Parry-Romberg Syndrome Resource: a nonprot
organization dedicated to providing awareness of
Parry-Romberg Disease

EXTERNAL LINKS

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