Connective Tissue Diseases Codexery

Progressive hemifacial atrophy

Rare disorder causing progressive shrinkage of one side of the face.

Progressive hemifacial atrophy is a rare acquired disorder characterized by slowly progressive shrinkage of the skin and soft tissues of half of the face.[1] The cause of Parry-Romberg syndrome is not known, and it is thought to happen without a clear pattern.[1][2] Medical experts suspect an autoimmune process is involved, and the condition may be a form of localized scleroderma.[3][1]

Quick Facts

Female to male ratio
3:2
Average age of onset
9 years
Age range of onset
5 to 15 years
First described by
Caleb Hillier Parry (1825)

Facts from the source article.

Key facts and history

The disease was first described in 1825 by Caleb Hillier Parry in a collection of his medical writings published posthumously by his son.[4] Initial facial changes usually involve the area covered by the temporal or buccinator muscles.[5] A depressed linear scar called a "coup de sabre" lesion may appear, resembling a sabre wound.[6] Moritz Heinrich Romberg and Eduard Heinrich Henoch provided a second description of the disease in 1846.[4]

The term "progressive hemifacial atrophy" was first introduced by German neurologist Albert Eulenburg in 1871.[4] The condition is more common in females, and its onset usually occurs between the ages of 5 and 15.[7] On the affected side of the face, the mouth and nose are often pulled toward that side.[5] In as many as 20% of patients, the disease can spread to the neck, trunk, arm, or leg on the same or opposite side of the body.[8]

The illness can advance over a number of years and then suddenly stop progressing.[9]

What the research sources say

According to the same source, the characteristic symptom is thinning or atrophy of various facial tissues including fat, skin, connective tissues, muscle, and in some people, bone.[1] The NORD report notes that facial atrophy may progress slowly over many years before stopping, and if it stops, it may occasionally reactivate later in life, but this is rare.[1] The NORD database states that many medical experts think Parry-Romberg syndrome is an autoimmune disease where inflammation in the nerves that supply skin and fat causes an autoimmune reaction.[1] The NORD report indicates there is no specific evidence suggesting that a genetic component plays a role in the development of Parry-Romberg syndrome.[1]

References

  1. "Parry Romberg Syndrome", NORD's Rare Disease Database, 2016. facts only, no text reused. rarediseases.org
  2. Wikipedia, "Parry–Romberg syndrome" (CC BY-SA 4.0), which cites: "Progressive facial hemiatrophy (Romberg's diseases): a review of 772 cases", Excerpta Medica, October 13–18, 1963, p. 681–9 (original not read by us) en.wikipedia.org
  3. Wikipedia, "Parry–Romberg syndrome" (CC BY-SA 4.0), which cites: "Parry-Romberg Syndrome", StatPearls, November 8, 2022; "Case 178: Parry-Romberg syndrome", Radiology, February 2012, p. 721–5 (original not read by us) en.wikipedia.org
  4. Wikipedia, "Parry–Romberg syndrome" (CC BY-SA 4.0), which cites: Parry, "Collections from the unpublished medical writings of the late Caleb Hillier Parry, M.D., F.R.S.", Underwoods, 1825, p. 478–80; Romberg, "Klinische ergebnisse", Albert Förstner, 1846, p. 75–81; Eulenburg, "Lehrbuch der functionellen nervenkrankheiten auf physiologischer basis", Verlag von August Hirschwald, 1871, p. 712–26; ; "Clinical and radiologic findings in progressive facial hemiatrophy (Parry-Romberg syndrome)", AJNR. American Journal of Neuroradiology, April 1997, p. 751–7 (original not read by us) en.wikipedia.org
  5. Wikipedia, "Parry–Romberg syndrome" (CC BY-SA 4.0), which cites: Gorlin, "Syndromes of the head and neck", Oxford University Press, 2001, p. 977–1038; Saraf, "Textbook of oral pathology", Jaypee Brothers Medical Publishers Ltd, 2006, p. 31–76 (we also read that source) en.wikipedia.org
  6. Wikipedia, "Parry–Romberg syndrome" (CC BY-SA 4.0), which cites: Saraf, "Textbook of oral pathology", Jaypee Brothers Medical Publishers Ltd, 2006, p. 547–54; Wartenberg, "Progressive facial hemiatrophy (abstract)", Archives of Neurology and Psychiatry, 1945, p. 75–97 (we also read that source) en.wikipedia.org
  7. Wikipedia, "Parry–Romberg syndrome" (CC BY-SA 4.0), which cites: "Late-onset progressive facial hemiatrophy (Parry-Romberg syndrome)", J Postgrad Med, 2005, p. 135–6 (original not read by us) en.wikipedia.org
  8. Wikipedia, "Parry–Romberg syndrome" (CC BY-SA 4.0), which cites: Stone, "Neurological rarity: Parry-Romberg syndrome", Practical Neurology, 2006, p. 185–8 (original not read by us) en.wikipedia.org
  9. Wikipedia, "Parry–Romberg syndrome" (CC BY-SA 4.0), which cites: Gorlin, "Syndromes of the head and neck", Oxford University Press, 2001, p. 977–1038 (we also read that source) en.wikipedia.org

Each numbered sentence above was checked against the source it cites before publication. Sentences citing Wikipedia adapt text from the English Wikipedia article Parry–Romberg syndrome (contributors), used under CC BY-SA 4.0; this entry is available under the same licence. Other sources were used for facts only; no text or images are copied from them.

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