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Diseases

Genetic and Rare Diseases Information Center (GARD)

Progressive hemifacial atrophy


Other Names for this Disease
  • Parry-Romberg syndrome
  • Hemifacial atrophy, progressive
  • Romberg hemi-facial atrophy
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Overview

Progressive hemifacial atrophy, also known as Parry-Romberg syndrome (PRS), is characterized by progressive unilateral facial atrophy of the skin, soft tissue, muscles, and underlying bony structures that may be preceded by localized sceleroderma (thickening and hardening of skin). Ocular (eye) and neurologic involvements are common. The disorder slowly progresses over years resulting in a sunken and wrinkled face on one side. Disease progression may vary between 2 to 20 years until stabilization is reached. Stabilization occurs without treatment. The average onset of disease is around 10 years of age; however, onset can be found as late as 40-50 years and as early as newborns. In addition, progressive hemifacial atrophy is not always restricted to one side, as bilateral facial or cerebral atrophy may occur; however, bilateral occurrence is sometimes classified as Barraquer-Simons syndrome.[1][2][3][4]

Progressive hemifacial atrophy is very often associated with a localized scleroderma called "linear scleroderma en coupe de sabre" (LSCS). Medical researchers have proposed that progressive hemifacial atrophy can be categorized as subset of linear scleroderma and may be actually part of a spectrum (range of disorders) which includes LSCS.[1][4]

The severity of progressive hemifacial atrophy varies greatly. Although the causes of progressive hemifacial atrophy are at present still unknown, medical researchers believe the causes are varied. Due to its relationship to linear scleroderma, treatment while the disorder is progressing may include systemic medications used to treat other forms of linear scleroderma. After progressive hemifacial atrophy has stabilized, treatment may involve reconstructive or microvascular surgery.[1][2][3][4]
Last updated: 4/28/2016

References

  1. 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.
  2. 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/.
  3. 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/.
  4. 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/.
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Basic Information

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.
Other Names for this Disease
  • Parry-Romberg syndrome
  • Hemifacial atrophy, progressive
  • Romberg hemi-facial atrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.