Parry Romberg Syndrome

Disease Overview

Parry-Romberg syndrome is a rare, acquired disorder characterized by slowly progressive shrinkage (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy). In rare cases, both sides of the face are affected. In some people, atrophy may also affect the limbs, usually on the same side of the body as the facial atrophy.

The severity and specific symptoms of Parry-Romberg syndrome are highly variable from one person to another. Additional symptoms can potentially develop in some people including neurological abnormalities or abnormalities affecting the eyes or teeth.

Parry-Romberg syndrome usually becomes apparent during the first decade of life or early during the second decade but does occur in adulthood. Most individuals with Parry-Romberg syndrome experience symptoms before the age of 20 years.

The exact cause of Parry-Romberg syndrome is unknown and appears to occur randomly for unknown reasons (sporadically).

Diagnosis is based on the signs and symptoms.

There is currently no cure or specific treatment. The treatment of Parry-Romberg syndrome is directed toward the specific symptoms that are apparent in each affected person.

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Synonyms

• hemifacial atrophy (HFA)
• progressive facial hemiatrophy
• progressive hemifacial atrophy
• PRS
• Romberg syndrome

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Signs & Symptoms

The symptoms, progression and severity of Parry-Romberg syndrome are highly variable from one person to another and range from mild to severe. It is important to note that affected individuals will not have all the symptoms discussed below. It seems likely that individuals with milder symptoms are much more common than severely affected individuals. Affected individuals should talk to their physician and medical team about their specific case and associated symptoms.

The characteristic symptom of Parry-Romberg syndrome is thinning or shrinkage (atrophy) of various tissues of the face including fat, skin, connective tissues, muscle and, in some people, bone. The degree of atrophy can vary widely, ranging from mild, barely perceptible changes to significant asymmetry in which one side of the face appears “sunken in”. The progression of atrophic changes can vary as well. Facial atrophy may progress slowly over many years before stopping. If the atrophy stops progressing, it may occasionally reactivate later in life, but this is rare. In other people, the atrophy may progress indefinitely. In some people, when Parry-Romberg syndrome starts at an early age, the progression seems to accelerate more quickly than when it starts later in life.

The initial facial changes associated with Parry-Romberg syndrome usually occur near the middle portion of the face such as the cheek area above the upper jawbone (maxilla) or between the nose and the upper corner of the lip. As the disease process continues, the upper face (e.g., the areas around the eye, the eyebrow and the ear) as well as the angle of the mouth and the lower jawbone (mandible) usually are affected. In some people, one half of the chin may also be involved.

Many individuals have an unusual bony depression or hollow in the forehead or upper domed portion of the skull, the bony cavity that accommodates the eye (orbit) and/or the lower jawbone (mandible).

In some people, a “line” may form in the area where the atrophic changes on one side of the face meet the normal, unaffected skin on the other side of the face. In some people, this “line” may be very distinct and runs either vertically or diagonally down the forehead. The abnormal skin is thickened and hardened (sclerosis). This condition may be referred to as linear scleroderma “en coup de sabre” (LSCS–this comes from the French for ‘sabre cut’) and it can occur by itself as an isolated finding.

• According to medical literature, LSCS is either a separate disorder that overlaps to a large degree with Parry-Romberg syndrome or essentially the same disorder (i.e., different expressions of one disease process or spectrum of disease)
• The exact relationship of LCSC and Parry-Romberg syndrome is not fully understood but it’s clear that the two commonly occur together. About one third of people with linear scleroderma on the head or neck have Parry-Romberg syndrome

Other features may include:

• Ear abnormalities (rarely) caused by progressive atrophic changes, characterized by the ear on the affected side becoming misshapen and unusually small and protruding from the head due to loss of supporting tissue
• Anomalies of the arm, trunk and legs on one side of the body, either the same side (ipsilateral) as the atrophic changes to the face or the opposite side (contralateral) due to the progression of the associated atrophic skin and soft tissue changes
• Abnormalities of the hair on the affected side (in many cases) including:
  • Development of abnormal bald patches on the scalp (alopecia)
  • Absence of eyelashes
  • Absence of the middle portion of the eyebrow
  • Whitening (blanching) of the hair (in some people, such hair changes may occur before other abnormalities associated with the disorder)
• Abnormalities of the mouth and teeth including:
  • Atrophy of half (hemiatrophy) of the upper lip and/or one side of the tongue
  • Shortening of portions of the lower jawbone (mandible) on the affected side
  • Jaws that may be prone to spontaneous fracture
    • The unaffected side of the mouth and nose may sometimes point (deviate) towards the affected side
    • Some affected individuals may have difficulty opening or closing their jaws
    • Involuntary contractions of muscles used in chewing (hemi-masticatory spasm or trismus) may occur
    • One side of the upper lip may have an unusually twisted or raised appearance and certain teeth may be abnormally exposed, erupt unusually late and/or have atrophic roots
  • The upper and lower teeth may meet inappropriately (malocclusion)
• Neurological symptoms that may include:
  • Headaches and migraine headaches (severe headaches accompanied by visual symptoms, light sensitivity, nausea and vomiting) that may be of long duration and have associated pupillary abnormalities (the black part of the eye)
  • Seizures (in about 1 in 10 affected people) usually characterized by jerky movements of muscles on the side of the body not affected by hemifacial atrophy (called contralateral focal seizures,) that may spread up or down a limb
  • The seizures typically begin within 3 years of the onset of the symptoms
  • Abnormal sensations (such as prickling or burning sensations called paresthesia) in the facial area and/or episodes of severe pain in the facial areas supplied by the fifth cranial nerve (trigeminal nerve) including the mouth, cheek, nose and/or other areas (trigeminal neuralgia)
  • Spasm of the jaw (trismus), typically on the same side as the hemiatrophy, which may be helped with botulinum toxin therapy (Botox)
  • Weakness of the opposite side of the hemiatrophy.
• Skin problems including:
  • Abnormal darkening or fading of the skin overlying the affected areas (hyper- and hypopigmentation) that may appear before the atrophic symptoms in some people
  • Patches of skin on the arms, legs and/or trunk that have similar pigmentation abnormalities (rarely)
  • Vitiligo, a skin condition in which loss of color (pigmentation) of areas of skin results in the development of abnormal white patches
• Eye (ocular) abnormalities that may include:
  • Loss of fat lining the cavity that accommodates the eye (orbit) and loss of bone from the orbit may cause the eye to have sunken appearance (enophthalmos)
  • Displacement of the eyeball farther back in the eye socket than normal (globe retraction)
  • Reduction in eye size (globe atrophy)
  • Drooping of the upper eyelid (ptosis)
  • Different colored eyes (heterochromia)
  • Difficulty closing the eye (lagophthalamos)
  • Inflammation of the retina (retinitis)
  • Inflammation of the uvea (uveitis) – the iris and middle part of the eye
  • Double vision (diplopia) if the nerves that control eye muscles are involved
• Anxiety and depression because of the effect on facial appearance
• Higher chance of having other autoimmune conditions

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Causes

The cause of Parry-Romberg syndrome is unknown and appears to occur randomly for unknown reasons (sporadically). Different theories have been proposed to explain the development of the disorder including abnormal development or inflammation of the sympathetic nervous system; viral infections; inflammation of the brain and membranes (meninges) covering the brain (meningoencephalitis); trauma; abnormalities of blood vessel formation (angiogenesis); or autoimmunity.

Many medical experts think that Parry-Romberg syndrome is an autoimmune disease, where the inflammation in the nerves that supply skin and fat causes an autoimmune reaction. Autoimmune disorders occur when the body’s immune system mistakenly attacks healthy tissue. The immune system produces specialized proteins called antibodies that destroy foreign materials (e.g., bacteria, viruses, toxins). When antibodies react against healthy tissue, they are known as autoantibodies. There is some evidence from a variety of sources that autoimmune inflammation occurs in Parry-Romberg syndrome, but it is not known if this is the main cause.

Some people affected with Parry-Romberg syndrome have a history of trauma to their face or head, but this may be a coincidental finding. More research is necessary to determine what role, if any, that trauma plays in the development of Parry-Romberg syndrome.

Rarely, some individuals with Parry-Romberg syndrome have had relatives with facial asymmetry. However, there is no specific evidence suggesting that a genetic component plays a role in the development of Parry-Romberg syndrome. Genetic testing in patients with Parry-Romberg syndrome has not shown disease-causing gene changes (variants). There is no evidence that it can be passed on to children.

In other types of disorders which affect the soft tissues and sometimes the nervous system, studies in recent years have highlighted the role of ‘somatic variants’ of genes in causing disease. Somatic variants are gene changes that occur during very early development after the sperm has fertilized the egg but when the developing baby is still a ‘ball of cells’. At this very early stage, one of these cells can develop a spontaneous gene variant which then leads to gene variants in cells that derive from this cell. It is not known whether Parry Romberg syndrome is caused by a somatic gene variant, but it is another hypothesis. Disorders caused by somatic variants will not be passed on to children unless the variant is also in the sperm or egg which would not be expected in Parry Romberg syndrome.

More research is necessary to determine the specific, underlying cause(s) of Parry-Romberg syndrome. It is possible that the disease is multifactorial, i.e, the cause may be different in one person than in another and the development of the disorder may require multiple different factors occurring together.

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Affected populations

Parry-Romberg syndrome is a rare disorder. The true incidence is unknown. Because the disorder often goes undiagnosed or misdiagnosed, determining the true frequency of Parry-Romberg syndrome in the general population is difficult. Researchers have estimated that Parry-Romberg may affect as many as 1 in 250,000 people in the general population. Parry-Romberg syndrome appears to affect females slightly more often than males, but proper studies of the population are lacking. Parry-Romberg syndrome typically becomes apparent during the first or early during the second decade of life, with most affected individuals experiencing symptoms before the age of 20 years. However, the disorder has been described in infants and individuals more than 50 years of age. Parry-Romberg syndrome was originally described in the medical literature in 1825 (C.H. Parry) and 1846 (E. Henoch and H.M. Romberg). There are anecdotal reports of Parry-Romberg syndrome worsening in some pregnant women, either during pregnancy or shortly after childbirth.

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Disorders with Similar Symptoms

Symptoms of the following disorders can be similar to those of Parry-Romberg syndrome. Comparisons may be useful for a differential diagnosis, although the clinical features of Parry Romberg syndrome are quite distinct to a doctor familiar with the condition.

Hemifacial microsomia is a rare disorder characterized by craniofacial abnormalities involving the jaws, mouth and ears in addition to extra cranial anomalies of the cardiac, skeletal, renal systems and extremities (HFM with expanded spectrum). Many researchers consider Goldenhar syndrome a variant and subgroup of hemifacial microsomia. In the medical literature, hemifacial microsomia and Goldenhar syndrome are often grouped together under the term “oculoauriculovertebral (OAV) spectrum”. For most affected people, no apparent cause has been identified. In other people, there has been a positive family history that, according to some researchers, appears to suggest autosomal dominant inheritance. The physical features associated with hemifacial microsomia OAV spectrum vary dramatically from person to person. Such features tend to involve one side of the body (unilateral) and may represent varying combinations of certain abnormalities. These include underdevelopment of the cheekbones, the upper jaw and the lower jaw (malar, maxillary, and mandibular hypoplasia); underdevelopment of certain muscles in the face; abnormalities of the tongue, incomplete closure of the roof of the mouth (cleft palate) and/or an abnormal groove in the lip (cleft lip); malformed external ears (pinnae) with blind ending or absent external ear canals (microtia), resulting in hearing impairment (conductive hearing loss); abnormal outgrowths of skin on the ears (skin tags); and/or incomplete development of certain bones in the spinal column (vertebral hypoplasia). Additional abnormalities include partial or total absence of tissue (coloboma) from the upper eyelids, crossed eyes (strabismus), and/or abnormally small eyes (microphthalmia); heart (cardiac) defects; kidney (renal) abnormalities; and/or additional physical abnormalities. (For more information on this disorder, choose “OAV Spectrum” as your search term in the Rare Disease Database.)

Many neurological disorders including Bell’s palsy may cause weakness of the face on one side. However, in Parry Romberg syndrome the facial muscles are thin but not weak.

Bell’s palsy is a nonprogressive neurological disorder of one of the facial nerves (7th cranial nerve). This disorder is characterized by the sudden onset of facial paralysis that may be preceded by a slight fever, pain behind the ear on the affected side, a stiff neck and weakness and/or stiffness on one side of the face. Paralysis results from inflammation of the 7th cranial nerve. The exact cause of Bell’s palsy is not known. Viral (e.g., herpes zoster virus) and immune disorders are frequently implicated as a cause for this disorder. There may also be an inherited tendency toward developing Bell’s palsy. (For more information on this disorder, choose “Bell’s palsy” as your search term in the Rare Disease Database.)

Lipodystrophies are a group of rare inherited or acquired disorders of fat metabolism characterized by almost complete (generalized) or partial loss of body fat (adipose tissue) and certain abnormalities of the body’s chemical processes (metabolism) including resistance to insulin, increased levels of glucose in the blood (hyperglycemia) and/or other findings. The lipodystrophies are differentiated by degrees of severity and the specific areas of the body affected. Generalized or total lipodystrophy, which usually is apparent at birth or during the first decade of life, is characterized by generalized wasting (atrophy) of the layer of fat under the skin (subcutaneous fat) and other fatty tissue (extracutaneous adipose tissue) occurring in association with a variety of metabolic abnormalities (e.g., diabetes, hyperglycemia), abnormally increased growth, advanced bone age, abnormal darkening and thickening of patches of skin in certain areas of the body (acanthosis nigricans), excessive hair growth (hirsutism or hypertrichosis) and/or other findings. Generalized lipodystrophy may occur in inherited or acquired forms. Acquired partial lipodystrophy, which is usually apparent in the first decade of life, is characterized by atrophy of subcutaneous fat beginning in the facial area and gradually affecting the neck, chest, back, and arms. In most patients with acquired partial lipodystrophy, both sides of the body (bilateral) are affected, although, in rare cases, just one side may be involved (unilateral). A form of acquired partial lipodystrophy that affects the face first is called Barraquer-Simons syndrome. (For more information, choose “lipodystrophy” or the exact name of the disease in question as your search term in the Rare Disease Database.)

Individuals who have had injuries or burns to their face may develop an appearance similar to Parry Romberg syndrome.

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Diagnosis

A diagnosis of Parry-Romberg syndrome is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests.

Recommended testing depends on which symptoms are present and which symptoms occur first. For example, magnetic resonance imaging (MRI) may be used in individuals with neurological symptoms. An MRI uses a magnetic field and radio waves to produce cross-sectional images of organs and bodily tissues. MRI allows better characterization of the soft tissue and bony changes when present. Up to 50% of individuals with Parry-Romberg syndrome may have changes on brain MRI scans, which are more common in individuals who have headaches and/or seizures. These changes can include atrophy of the brain on the same side as the facial changes, calcification and  inflammation within the brain itself (white matter signal abnormality). Surgical removal and microscopic examination (biopsy) of affected skin tissue may be used in individuals with linear scleroderma en coup sabre.

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Standard Therapies

Treatment
The treatment of Parry-Romberg syndrome is directed toward the specific symptoms that are apparent in each. Treatment may require the coordinated efforts of a team of specialists. Pediatricians or internists, surgeons (especially plastic surgeons), dentists, ophthalmologists, dermatologists, neurologists and/or other health care professionals may need to plan an affected individual’s treatment systematically and comprehensively. For example, migraine, epilepsy or uveitis can be treated as they would in any other situation.

The main treatment is surgery and a variety of surgical techniques have been used to improve cosmetic appearance in affected individuals. The success rates of these surgical options are highly variable. Surgical treatment is usually not advised until the atrophic changes have ceased and the extent of resulting facial deformity is known. Some doctors advise those with Parry-Romberg syndrome to postpone any surgical procedures until the skull and face are fully developed and the symptoms have subsided for at least a year. Monitoring can be done by having medical photographs taken over a period of time, to be used for comparison. Surgery may leave scar tissue. The effects of this scar tissue on subsequent surgeries should be considered for the final outcome.

Surgical techniques used to treat individuals with Parry-Romberg syndrome include fat or silicone injections, flap/pedicle grafts or bone implants. These procedures may be effective in achieving cosmetic improvement. It should be noted, however, that fat injections may be reabsorbed when given during the active disease phase. A flap/pedicle procedure is a skin and tissue graft that is left temporarily attached to its original site to maintain a constant blood supply while it heals into place.

In some patients, additional measures may help treat certain abnormalities resulting from the disease process. Associated dental abnormalities may be treated with additional surgical and/or other corrective techniques. Additional surgical, corrective and/or supportive measures may help improve visual problems resulting from hemifacial atrophy. Treatment with anticonvulsant drug therapy may help prevent, reduce or control seizures potentially occurring in association with the disorder. In addition, in affected individuals with trigeminal neuralgia, certain medications and/or surgical treatments may be beneficial in some patients. (For more information on this disorder, please choose “trigeminal neuralgia” as your search term in the Rare Disease Database.)

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Clinical Trials and Studies

Some individuals with severe, progressive Parry-Romberg syndrome have been treated with drugs that suppress the activity of the immune system (immunosuppressive drugs) including methotrexate, corticosteroids, cyclophosphamide, azathioprine and secukinumab. These have been used because of the hypothesis that Parry Romberg syndrome is an autoimmune condition and because it overlaps with the inflammatory condition scleroderma ‘en coup de sabre’. It is unclear how beneficial these drugs are, or whether they are beneficial at all. More research is necessary to determine the long-term safety and effectiveness of immunosuppressive drugs in the treatment of Parry-Romberg syndrome. For some patients the use of immunosuppressive drugs may help with controlling seizures, especially when Parry-Romberg syndrome co-exists with linear scleroderma ‘en coup de sabre’.

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

Some current clinical trials also are posted on the following page on the NORD website: https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/

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References

TEXTBOOKS
Susser WS, Chapman MS. Parry-Romberg Syndrome. NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:232-233.

Gorlin RJ, Cohen MMJr, Hennekam RCM. Eds. Syndromes of the Head and Neck. 4th ed. Oxford University Press, New York, NY; 2001:1020-1021.

JOURNAL ARTICLES
De la Garza-Ramos C; Jain A; Montazeri SA, et al. Brain abnormalities and epilepsy in patients with Parry-Romberg syndrome. AJNR Am J Neuroradiol. 2022 43(6):850-856.

Knights H, Minas E, Khan F, et al. Magnetic resonance imaging findings in children with Parry-Romberg syndrome and en coup de sabre. Pediatric Rheumatol Online J. 2021; 19(1):42.

Hixon AM; Christensen E; Hamilton R, Drees C. Epilepsy in Parry–Romberg syndrome and linear scleroderma en coup de sabre: Case series and systematic review including 140 patients. Epilepsy & Behaviour 2021; 121:108068

Kunzler E, Florez-Pollack S, Teske N, et al. Linear morphea: Clinical characteristics, disease course, and treatment of the Morphea in Adults and Children cohort. J Am Acad Dermatol. 2019; 80:1664-1670.e1

Anderson LE, Treat JR, Licht DJ, et al. Remission of seizures with immunosuppressive therapy in Parry-Romberg syndrome and en coup de sabre linear scleroderma: Case report and brief review of the literature. Pediatr Dermatol. 2018; 35:e363–5.

Tan AP, Wong YLJ, Lin BJ, et al. Clinico-radiological approach to cerebral hemiatrophy. Child’s Nerv Syst. 2018; 34:2377–90.

Bucher F, Fricke J, Neugebauer A, et al. Ophthalmological manifestations of Parry-Romberg syndrome. Surv Ophthalmol. 2016; 61:693–701.

Raposo-Amaral CE, Denadai R, Camargo DN, Artioli TO, Gelmini Y, Buzzo CL, Raposo-Amaral CA.Parry-Romberg syndrome: severity of the deformity does not correlate with quality of life. Aesthetic Plast Surg. 2013 Aug;37(4):792-801. doi: 10.1007/s00266-013-0142-0. Epub 2013 May 30.

El-Kehdy J, Abbas O, Rubeiz N. A review of Parry-Romberg syndrome. J Am Acad Dermatol 2012;67:769–84.

Slack GC1, Tabit CJ, Allam KA, Kawamoto HK, Bradley JP. Parry-Romberg reconstruction: optimal timing for hard and soft tissue procedures. J Craniofac Surg. 2012 Nov;23(7 Suppl 1):1969-73. doi: 10.1097/SCS.0b013e318258bd11.

Tollefson MM, Witman PM. En coup de sabre morphea and Parry-Romberg syndrome: A retrospective review of 54 patients. J Am Acad Dermatol 2007;56:257–63.

Stone J. Parry-Romberg syndrome. Practical Neurology. 2006;6:185-188.

Holland KE, Steffes B, Nocton JJ, et al. Linear scleroderma en coup de sabre with associated neurological abnormalities. Pediatrics. 2006;117:e132-136.

Sommer A, Gambichler T, Bacharach-Buhles M, et al. Clinical and serological characteristics of progressive facial hemiatrophy: a case series of 12 patients. J Am Acad Dermatol. 2006;54:227-233.

Stone J. Parry-Romberg syndrome: a global survey of 205 patients using the Internet. Neurology. 2003;61:674-676.

Orozco-Covarrubias L, Guzman-Meza A, Ridaura-Sanz C, et al. Scleroderma “en coup de sabre” and progressive facial hemiatrophy. Is it possible to differentiate them? J Eur Acad Dermatol Venereol. 2002;16:361-366.

Chapman MS, Peraza JE, Spencer SK. Parry-Romberg syndrome with contralateral and ipsalateral extremity involvement. J Cutan Med Surg. 1999;3:260-262.

Kister I, Inglese M, Laxer RM, et al. Neurologic manifestations of localized scleroderma: A case report and literature review. Neurology. 2008; 71:1538–45.

INTERNET
Kaplan MJ. Localized Fibrosing Disorders: Linear Scleroderma, Morphea, and Regional Fibrosis. Medscape. Updated: Jul 28, 2021. Available at: http://emedicine.medscape.com/article/334939-overview Accessed March 6, 2024.

National Institute of Neurological Disorders and Stroke. Parry-Romberg Information Page Nov 28, 2023. Available at: https://www.ninds.nih.gov/disorders/all-disorders/parry-romberg-information-page Accessed March 6, 2024.

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