Rare Gastroenterology News

Disease Profile

Progressive hemifacial atrophy

Prevalence
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

ageofonset-childhood.svg

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

no.svg

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

no.svg

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.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

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.

no.svg

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.

no.svg

Not applicable

notapplicable.svg

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 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]

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 seizuresmigraine 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
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

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]

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]

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]

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]

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

    Organizations Providing General Support

      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

        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

          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. https://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. https://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.

          Rare Gastroenterology News