| Parry–Romberg syndrome | |
|---|---|
| Other names | Progressive hemifacial atrophy |
 | |
| a 17-year-old girl with Parry–Romberg syndrome. Thesubcutaneous tissue and underlyingfacial muscles on the right side of the face are severelyatrophic, while the left side is unaffected. | |
| Specialty | Neurology  |
| Named after | |
Parry–Romberg syndrome (PRS) is arare disease presenting in early childhood[1] characterized by progressiveshrinkage and degeneration of thetissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body.[2] Anautoimmune mechanism is suspected, and the syndrome may be a variant oflocalized scleroderma, but the precise cause andpathogenesis of this acquired disorder remains unknown. It has been reported in the literature as a possible consequence ofsympathectomy. The syndrome has a higherprevalence in females and typically appears between 5 and 15 years of age. There has been only one case report of the syndrome appearing in older adults: a 43-year-old woman with symptoms appearing at the age of 33.[3]
In addition to theconnective tissue disease, the condition is sometimes accompanied by neurological, ocular, and oral symptoms. The range and severity of associated symptoms and findings are highly variable.
Initial facial changes usually involve the area of the face covered by thetemporal orbuccinator muscles. The disease progressively spreads from the initial location, resulting in atrophy of the skin and itsadnexa, as well as underlying subcutaneous structures such asconnective tissue, (fat,fascia,cartilage,bones) and/ormuscles of one side of the face.[4] The mouth and nose are typically deviated towards the affected side of the face.[5]
The process may eventually extend to involve tissuesbetween the nose and the upper corner of the lip, theupper jaw, theangle of the mouth, the areaaround the eye and brow, the ear, and/or the neck.[4][5] The syndrome often begins with a circumscribed patch ofscleroderma in the frontal region of the scalp which is associated with aloss of hair and the appearance of a depressed linear scar extending down through the midface on the affected side. This scar is referred to as a "coup de sabre" lesion because it resembles the scar of a wound made by a sabre, and is indistinguishable from the scar observed infrontal linear scleroderma.[6][7]
In 20% of cases, the hair and skin overlying affected areas may becomehyperpigmented orhypopigmented with patches ofunpigmented skin. In up to 20% of cases the disease may involve theipsilateral (on the same side) or contralateral (on the opposite side) neck, trunk, arm, or leg.[8] The cartilage of the nose, ear and larynx can be involved. The disease has been reported to affect both sides of the face in 5 to 10% of cases.[6]
Symptoms and physical findings usually become apparent during the first or early during the second decade of life. The average age of onset is nine years of age,[4] and the majority of individuals experience symptoms before 20 years of age. The disease may progress for several years before eventually going intoremission (abruptly ceasing).[4]
Neurological abnormalities are common. Roughly 45% of people with Parry–Romberg syndrome also havetrigeminal neuralgia (severe pain in the tissues supplied by the ipsilateraltrigeminal nerve, including the forehead, eye, cheek, nose, mouth and jaw) and/ormigraine (severe headaches that may be accompanied by visual abnormalities, nausea and vomiting).[8][9]
10% of affected individuals develop a seizure disorder as part of the disease.[8] The seizures are typicallyJacksonian in nature (characterized by rapid spasms of a muscle group that subsequently spread to adjacent muscles) and occur on the side contralateral to the affected side of the face.[4] Half of these cases are associated with abnormalities in both thegray andwhite matter of the brain—usually ipsilateral but sometimes contralateral—that are detectable onmagnetic resonance imaging (MRI) scan.[8][10]
Recession of the eyeball within theorbit is the most common eye abnormality observed in Parry–Romberg syndrome. It is caused by a loss of subcutaneous tissue around the orbit. Other common findings includedrooping of the eyelid,constriction of the pupil,redness of theconjunctiva, anddecreased sweating of the affected side of the face. Collectively, these signs are referred to asHorner's syndrome. Other ocular abnormalities includeophthalmoplegia (paralysis of one or more of theextraocular muscles) and other types ofstrabismus,uveitis, andheterochromia of theiris.[11][12]
The tissues of the mouth, including the tongue,gingiva, teeth andsoft palate are commonly involved in Parry–Romberg syndrome.[5] 50% of affected individuals develop dental abnormalities such as delayederuption, dentalroot exposure, or resorption of thedental roots on the affected side. 35% havedifficulty or inability to normally open the mouth or other jaw symptoms, includingtemporomandibular joint dysfunction andspasm of themuscles of mastication on the affected side. 25% experience atrophy of one side of the upper lip and tongue.[8]
The fact that some people affected with this disease have circulatingantinuclear antibodies in theirserum supports the theory that Parry–Romberg syndrome may be an autoimmune disease, specifically a variant of localized scleroderma.[13] Several instances have been reported where more than one member of a family has been affected, prompting speculation of anautosomal dominantinheritance pattern. However, there has also been at least one report ofmonozygotic twins in which only one of the twins was affected, casting doubt on this theory. Further, the National Organization for Rare Disorders has stated there is currently no evidence that Parry–Romberg syndrome is genetic or that it can be passed on to children.[14] Various other theories about the cause and pathogenesis have been suggested, including alterations in the peripheralsympathetic nervous system (perhaps as a result of trauma or infection involving thecervical plexus or thesympathetic trunk), as the literature reported it followingsympathectomy, disorders in migration ofcranial neural crest cells, or chroniccell-mediated inflammatory process of the blood vessels. It is likely that the disease results from different mechanisms in different people, with all of these factors potentially being involved.[4]
Diagnosis can be made solely on the basis ofhistory andphysical examination in people who present with only facial asymmetry. For those who report neurological symptoms such as migraine or seizures, MRI scan of the brain is the imaging modality of choice. A diagnosticlumbar puncture andserum test forautoantibodies may also be indicated in people who present with a seizure disorder of recent onset.[8]Oligoclonal bands and an elevatedIgG index may be found in 50% of the patients.[15]
Medical management may involveimmunosuppressive drugs such asmethotrexate,corticosteroids,cyclophosphamide, andazathioprine. Norandomized controlled trials have yet been conducted to evaluate such treatments, so the benefits have not been clearly established.[8]
Affected individuals may benefit from autologous fat transfer or fat grafts to restore a more normal contour to the face. However, greater volume defects may requiremicrosurgicalreconstructive surgery which may involve the transfer of an island parascapular fasciocutaneous flap or afree flap from the groin,rectus abdominis muscle (Transverse Rectus Abdominis Myocutaneous or "TRAM" flap) orlatissimus dorsi muscle to the face. Severe deformities may require additional procedures, such as pedicledtemporal fascia flaps, cartilage grafts,bone grafts,orthognathic surgery, andbone distraction.[16] The timing of surgical intervention is controversial; some surgeons prefer to wait until the disease has run its course[5] while others recommend early intervention.[17]
Parry–Romberg syndrome appears to occur randomly and for unknown reasons. Prevalence is higher in females than males, with a ratio of roughly 3:2. The condition is observed on the left side of the face about as often as on the right side.[18]
The disease was first described in 1825 byCaleb Hillier Parry (1755–1822), in a collection of his medical writings which were published posthumously by his sonCharles Henry Parry (1779–1860).[19] It was described a second time in 1846 byMoritz Heinrich Romberg (1795–1873) andEduard Heinrich Henoch (1820–1910).[20] German neurologistAlbert Eulenburg (1840–1917) was the first to use the descriptive title "progressive hemifacial atrophy" in 1871.[21][22][23]