Progressive hemifacial atrophy

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: 2/16/2017

Symptoms Symptoms

The first signs of progressive hemifacial atrophy usually are skin changes similar to those in localized scleroderma. However, the characteristic sign of progressive hemifacial atrophy is the thinning or shrinkage (atrophy) of various tissues of the face including fat, skin, connective tissues, muscle, and sometimes, bone.^[2]^[5]^[6]^[7]

People with progressive hemifacial atrophy may also have seizures, migraine headaches, hair loss, facial nerve pain (trigeminal neuralgia) and darkening of skin (hyperpigmentation). Complications involving the eyes are also common, including changes to the eyelid and eye socket. The eyeball may appear to sink into the eye socket (enophthalmos) as the supporting tissue atrophies. Not everyone with progressive hemifacial atrophy will have all of the possible symptoms, and the symptoms may range from mild to severe.^[2]^[5]^[6]^[7]^[9]

Last updated: 4/29/2016

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Facial asymmetry	Very frequent (present in 80%-99% of cases)
Irregular hyperpigmentation	Very frequent (present in 80%-99% of cases)
Micrognathia	Very frequent (present in 80%-99% of cases)
Abnormality of the musculature	Frequent (present in 30%-79% of cases)
Aplasia/Hypoplasia of the skin	Frequent (present in 30%-79% of cases)
Asymmetric growth	Frequent (present in 30%-79% of cases)
Seizures	Frequent (present in 30%-79% of cases)
Deeply set eye	Occasional (present in 5%-29% of cases)
Heterochromia iridis	Occasional (present in 5%-29% of cases)
Ptosis	Occasional (present in 5%-29% of cases)
Alopecia areata	-
Ataxia	-
Blepharophimosis	-
Delayed eruption of teeth	-
Dental malocclusion	-
Hemifacial atrophy	-
Horner syndrome	-
Kyphosis	-
Microtia	-
Migraine	-
Onset	-
Poliosis	-
Short mandibular rami	-
Sporadic	-
Tongue atrophy	-
Trigeminal neuralgia	-

Last updated: 9/1/2017

Cause Cause

The cause of progressive hemifacial atrophy is unknown. Medical researchers believe it may be triggered by various things such as:^[2]^[5]^[6]^[7]

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: 4/29/2016

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: 4/29/2016

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: 4/29/2016

Treatment Treatment

Currently there is no treatment to stop the progression of progressive hemifacial atrophy. 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]

Treatment options are often the same as those used for linear scleroderma and may include:^[5]

Antimalarials
Methotrexate
Local or systemic steroids
Tetracycline
Cyclophosphamide
Surgery involving nerve tissue (s ympathectomy)
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 is symptomatic.^[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 may be used to restore the natural shape of the face and eye.^[5]

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

Silicone implants
Muscle flap grafts
Fat grafts with or without stem cells
Bone and cartilage grafts
Injections to fill in hollows below the skin

Last updated: 4/28/2016

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: 4/29/2016

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 condition? Let us know.

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 studying or have studied 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? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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.

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

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

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.