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Disease Profile
Progressive hemifacial atrophy
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Childhood
ICD-10
G51.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Parry-Romberg syndrome; Hemifacial atrophy, progressive; Romberg hemi-facial atrophy
Categories
Nervous System Diseases
Summary
Progressive hemifacial atrophy (PHA), also known as Parry-Romberg
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]
Symptoms
- 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).
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.
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 | |
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 |
Drooping upper eyelid
|
0000508 | |
Percent of people who have these symptoms is not available through HPO | ||
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 |
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 |
Cause
- 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 .
Diagnosis
Treatment
- 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
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
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]
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.
|
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
-
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Toll-free: 800-332-2373
Telephone: 423-266-1632
E-mail: [email protected]
Website: https://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: [email protected]
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: [email protected]
Website: https://www.aarda.org/
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.
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. https://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. https://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.
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