Progressive hemifacial atrophy

Información en español Title

Other Names:

Parry-Romberg syndrome; Hemifacial atrophy, progressive; Romberg hemi-facial atrophy

Categories:

Nervous System Diseases

Summary Summary

Progressive hemifacial atrophy (PHA), also known as Parry-Romberg syndrome, is characterized by slowly progressive deterioration of the skin and soft tissues on one side of the face.^[1] It sometimes occurs on both sides of the face and occasionally involves the arm, trunk, and/or leg.^[2]^[3]^[4] The condition may worsen for 2 to 20 years and then stabilize. It usually begins around age 10 but can begin as early as infancy or as late as mid-adulthood. The severity varies greatly. While the cause is not well understood, it may differ among affected people.^[2]^[5]^[6]^[7]

PHA is often associated with a type of linear scleroderma called "en coupe de sabre" (ECDS), and many researchers believe that PHA is also a form of linear scleroderma.^[5]^[7]^[8] Therefore, treatment for PHA often includes medications used to treat other forms of linear scleroderma. After progressive hemifacial atrophy has stopped progressing, reconstructive surgery may be used to restore the natural shape of the face and eye.^[5]

Last updated: 2/5/2018

Symptoms Symptoms

The first signs of progressive hemifacial atrophy usually are skin changes similar to those in localized scleroderma. It is more commonly seen in women and it usually affects the left side of the face more than the right side. Not everyone will have all of the possible symptoms, and the symptoms may range from mild to severe. In general, if the disease start later in life the atrophy is less severe because facial growth is almost complete in the second decade of life.^[2]^[5]^[6] Signs and symptoms may include:^[5]^[6]^[2]^[7]^[9]^[10]

Characteristic thinning or shrinkage (atrophy) of the various tissues of one side of the face, mainly involving fat tissue, but that can include skin, connective tissues, muscle, and sometimes, bone, with can result in a mild unnoticed asymmetry, or that can be very severe and cause disfigurement of the face
Eye problems (in around 10-35% of cases) including changes to the eyelid and eye socket, where the eyeball may appear to sink into the eye socket (enophthalmos) as the supporting tissue atrophies. Other problems may include corneal and retinal changes, or may involve the optic nerve, or the muscle of the eyes
Neurological complications occur in 45% of cases, and may include seizures, migraine headaches, hair loss, facial nerve pain (trigeminal neuralgia)
Darkening of skin (hyperpigmentation)
Teeth changes (in about 50% of the cases) which result in a deviation of nose and mouth to the affected side, and teeth exposure
Tongue atrophy
Very rarely there is also lost of fat tissue in the same side of the body where the face is affected, including arms, legs and thorax.

According to the severity of the disease, there are three types of progressive hemifacial atrophy:^[10]

Type I, is the most common and involves a localized area in the face affecting only the superficial layer of the skin (epidermal layer) that follows the distribution of the fifth cranial nerve (trigeminal nerve)
Type II, is more severe compared with type I
Type III affects both sides of the face including all soft and underlying bone (the less frequent).

Last updated: 2/6/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Facial asymmetry	Asymmetry of face Crooked face Unsymmetrical face [ more ]	0000324
Irregular hyperpigmentation		0007400
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
30%-79% of people have these symptoms
Abnormality of the musculature	Muscular abnormality	0003011
Aplasia/Hypoplasia of the skin	Absent/small skin Absent/underdeveloped skin [ more ]	0008065
Asymmetric growth	Uneven or disproportionate growth of one body part compared to another	0100555
Seizures	Seizure	0001250
5%-29% of people have these symptoms
Deeply set eye	Deep set eye Deep-set eyes Sunken eye [ more ]	0000490
Heterochromia iridis	Different colored eyes	0001100
Ptosis	Drooping upper eyelid	0000508
Percent of people who have these symptoms is not available through HPO
Alopecia areata		0002229
Ataxia		0001251
Blepharophimosis	Narrow opening between the eyelids	0000581
Delayed eruption of teeth	Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ]	0000684
Dental malocclusion	Bad bite Malalignment of upper and lower dental arches Misalignment of upper and lower dental arches [ more ]	0000689
Hemifacial atrophy	Atrophy of half of face Decrease in size of half of face Decrease in size of one side of the face Shrinking of half of face Shrinking of one side of the face [ more ]	0011331
Horner syndrome		0002277
Kyphosis	Hunched back Round back [ more ]	0002808
Microtia	Small ears Underdeveloped ears [ more ]	0008551
Migraine	Intermittent migraine headaches Migraine headache Migraine headaches [ more ]	0002076
Onset		0003674
Poliosis	Patch of white hair White patch [ more ]	0002290
Short mandibular rami		0003778
Sporadic	No previous family history	0003745
Tongue atrophy	Wasting of the tongue	0012473
Trigeminal neuralgia		0100661

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2018

Cause Cause

The cause of progressive hemifacial atrophy is unknown. Due to its similarity to localized, it has been considered as an autoimmune disorder.^[10] Other causes or triggers that have being suggested include:^[2]^[5]^[6]^[7]^[10]

inflammation of the brain (encephalitis) or blood vessels (vasculitis)
trauma
scleroderma
migraine headaches
infections (such as Lyme disease and herpes infections)
abnormalities of the way the body processes fat (fat metabolism)
blood vessel disorders in the brain (cranial vascular malformations)
noncancerous (benign) tumors.

Last updated: 2/6/2018

Inheritance Inheritance

Most cases of progressive hemifacial atrophy are sporadic, which means they occur in people with no family history of the condition. However, in rare cases, more than one family member is affected. No clear pattern of inheritance in these cases has been seen. Research into the cause of progressive hemifacial atrophy, including any possible genetic predisposition, is ongoing.^[2]^[5]^[7]

Last updated: 2/6/2018

Diagnosis Diagnosis

There is no specific test to diagnose progressive hemifacial atrophy, so the initial diagnosis can be difficult, often taking years. It is usually suspected because of the characteristic atrophy affecting tissues of the face. Diagnosis may include a medical examination, a full medical history, magnetic resonance imaging (MRI), removal of a tissue sample to study in the laboratory (biopsy), and/or and ruling out other causes.^[5]

Last updated: 2/6/2018

Treatment Treatment

Currently there is no treatment to stop the progression of progressive hemifacial atrophy, but various treatments have been tried. Because it is very similar to linear scleroderma treatment is also similar, and may include:^[5]^[11]^[10]

Antimalarials
Methotrexate
Local or systemic steroids
Tetracycline
Cyclophosphamide
Non-cosmetic skin softeners (emollients)
Vitamin D3 analogues
Treatment with drugs that become active when exposed to ultraviolet light (phototherapy), for example PUVA (Psoralen plus ultraviolet A)

Hemicranial pain syndrome (can be in form of migraine or continuous severe headache, but on one side of the head) has been treated successfully by repetitive local botulinum toxin A injections.^[5] Treatment of the eye and nerve involvement may include the use of some medications, such as steroids, and surgical procedures, depending on the specific problem.^[2]^[5]

Progressive hemifacial atrophy stops progressing on its own within 2 to 20 years, which makes it hard to decide if a therapy is successful. After the condition does stabilize, reconstructive surgery can be done to restore the fat tissue that is lost with the disease and, therefore, recover the natural shape of the face, and treat the sunken eye (enophthalmos) and the eyelid retraction.^[5]

The following techniques are options for surgical reconstruction:^[5]^[11]

Silicone implants
Muscle flap grafts
Fat grafts with or without stem cells
Bone and cartilage grafts
Injections to fill in hollows below the skin such as hyaluronic injection, which may be also improve the enophthalmos and eyelid retraction.

Since multiple systems of the body may be affected, a multidisciplinary team of physicians, surgeons, dentists, and psychologists may be needed to manage the different symptoms.^[2]^[5]^[6]^[7]

Last updated: 2/5/2018

Prognosis Prognosis

Progressive hemifacial atrophy is a slowly progressive, self-limiting condition. However, the type and severity of symptoms varies greatly. The length of time the disease progresses before it reaches stabilization also varies greatly.^[2]^[5]^[6]

While most sources state the course of the disease will stabilize in 2-10 years, the most recent review suggests 2-20 years.^[5]^[7] The condition may be less severe when it begins in adulthood than in younger ages, probably due to the complete development of craniofacial and nervous structures.^[2] To our knowledge, recurrence in the same person after the condition has stabilized has not been reported in the medical literature.

Progressive hemifacial atrophy can have a significant psychological and social impact on a person, depending on the severity, progression, age of onset, and success of cosmetic repair.

Last updated: 2/6/2018

Statistics Statistics

The number of people affected by progressive hemifacial atrophy is not well-established, but the prevalence is estimated to be about 1 in 700,000. The condition appears to affect females more frequently than males.^[5]^[7]

Last updated: 4/30/2016

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes localized scleroderma, Rasmussen syndrome, hemifacial microsomia, Goldenhar syndrome, idiopathic facial palsy, Berardinelli-Seip congenital lipodystrophy and partial acquired lipodystrophy. Patients with face injuries (e.g. burns), fat necrosis and congenital deformities (e.g. wry neck) should also be considered. Visit the Orphanet disease page for more information.

Conditions with similar signs and symptoms from Orphanet

Differential diagnosis includes localized scleroderma, Rasmussen syndrome, hemifacial microsomia, Goldenhar syndrome, idiopathic facial palsy, Berardinelli-Seip congenital lipodystrophy and partial acquired lipodystrophy. Patients with face injuries (e.g. burns), fat necrosis and congenital deformities (e.g. wry neck) should also be considered.

Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
ClinicalTrials.gov lists trials that are related to Progressive hemifacial atrophy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

The Romberg’s Connection
E-mail: rombergs@hotmail.com
Website: http://www.therombergsconnection.com/
TNA The Facial Pain Association
925 NW 56th Terrace
Suite C
Gainesville, FL 32605-6402
Toll-free: 800-923-3608
Telephone: 352-331-7009
Fax: 352-331-7078
E-mail: http://www.fpa-support.org/contact.html
Website: http://www.fpa-support.org/

Organizations Providing General Support

American Autoimmune Related Diseases Association (AARDA)
22100 Gratiot Avenue
Eastpointe, MI 48021
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: aarda@aarda.org
Website: https://www.aarda.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Progressive hemifacial atrophy. Click on the link to view a sample search on this topic.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

I am 17 years old and have this syndrome. I also have hair loss at the right side of the scalp and no facial hair on the right side. How can I grow my hair? See answer
I developed progressive hemifacial atrophy while I was pregnant. Can progressive hemifacial atrophy be triggered by pregnancy? Is it related to polycystic ovarian syndrome or insulin resistance? See answer
I have a friend who is affected by progressive hemifacial atrophy. How is this condition treated? How can I locate doctors who are familiar with the management of this condition? See answer

Have a question? Contact a GARD Information Specialist.

References References

Parry-Romberg Information Page. NINDS. https://www.ninds.nih.gov/Disorders/All-Disorders/Parry-Romberg-Information-Page.
Aydin H, Yologlu Z, Sargin H, and Metin MR. Parry-Romberg syndrome: Physical, clinical, and imaging features. Neurosciences. 2015; 20(4):368-371. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4727625/.
Vix J, Mathis S, Lacoste M, Guillevin R, and Neau J-P. Neurological Manifestations in Parry–Romberg Syndrome: 2 Case Reports. Lipsker. D, ed. Medicine. 2015; 94(8):e1147. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617071.
Stone J. Parry-Romberg syndrome: a global survey of 205 patients using the Internet. Neurology. 2003; 61:674-676. https://www.ncbi.nlm.nih.gov/pubmed/12963760.
Bucher F, Fricke J, Neugebauer A, Cursiefen C, and Heindl LM. Ophthalmological manifestations of Parry-Romberg syndrome. Surv Ophthalmol. April 1 2016; 6257(15):30073-4. http://www.ncbi.nlm.nih.gov/pubmed/27045226.
Lee Y-J, Chung K-Y, Kang H-C, Kim HD, and Lee JS. Parry-Romberg syndrome with ipsilateral hemipons involvement presenting as monoplegic ataxia. Korean Journal of Pediatrics. 2015; 58(9):354-357. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623455/.
Panda AK, Gopinath G, and Singh S. Parry-Romberg syndrome with hemimasticatory spasm in pregnancy; A dystonia mimic. Journal of Neurosciences in Rural Practice. 2014; 5(2):184-186. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4064192/.
Tolkachjov SN, Patel NG, and Tollefson MM. Progressive hemifacial atrophy: a review. Orphanet J Rare Dis. April 1, 2015; 10:39:https://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0250-9.
Borodic GE, Caruso P, Acquadro M, Chick S. Parry-Romberg syndrome vasculopathy and its treatment with botulinum toxin. Ophthal Plast Reconstr Surg. January-February, 2014; 30(1):e22-25. https://www.ncbi.nlm.nih.gov/pubmed/23719195.
Nair M, Ajila V, Hegde S, Babu G S, & Ghosh R. Clinical and radiographic features of parry-romberg syndrome. Journal of Istanbul University Faculty of Dentistry. 2017; 51(3):45–49. http://www.journals.istanbul.edu.tr/iudis/article/view/5000211178/5000182676.
Feldman I, Sheptulin VA, Grusha YO & Malhotra R. Deep Orbital Sub-Q Hyaluronic Acid Filler Injection for Enophthalmic Sighted Eyes in Parry-Romberg Syndrome.. Ophthal Plast Reconstr Surg. January 23, 2018; https://journals.lww.com/op-rs/Abstract/publishahead/Deep_Orbital_Sub_Q_Hyaluronic_Acid_Filler.98545.aspx.