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Progressive hemifacial atrophy


Información en español Title


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Other Names:
Parry-Romberg syndrome; Hemifacial atrophy, progressive; Romberg hemi-facial atrophy
Categories:
Nervous System Diseases
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Summary Summary


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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


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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.

Showing of 26 |
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
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
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
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
Age symptoms begin
0003674
Patchy alopecia
Patchy baldness
0002232
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
Showing of 26 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021

Cause Cause


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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


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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


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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


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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


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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


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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


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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 MedlinePlus Genetics.

Related Diseases Related Diseases


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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.

Research Research


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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


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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

  • FACES: The National Craniofacial Association
    PO Box 11082
    Chattanooga, TN 37401
    Toll-free: 800-332-2373
    Telephone: 423-266-1632
    E-mail: faces@faces-cranio.org
    Website: http://www.faces-cranio.org/
  • Facial Pain Association
    22 SE Fifth Ave., Suite D
    Gainesville, FL 32601
    Toll-free: 1-800-923-3608
    Telephone: +1-352-384-3600
    Fax: +1-352-384-3606
    E-mail: info@tna-support.org
    Website: https://fpa-support.org/

Organizations Providing General Support

  • American Autoimmune Related Diseases Association (AARDA)
    19176 Hall Road, Suite 130
    Clinton Township, MI 48038
    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


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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


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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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


  1. Parry-Romberg Information Page. NINDS. https://www.ninds.nih.gov/Disorders/All-Disorders/Parry-Romberg-Information-Page.
  2. 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/.
  3. 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.
  4. 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.
  5. 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.
  6. 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/.
  7. 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/.
  8. 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.
  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.
  10. 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.
  11. 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.
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