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Progressive osseous heteroplasia

Rare genetic condition characterised by cutaneous or subcutaneous ossification

Summary

Rare genetic condition characterised by cutaneous or subcutaneous ossification

FieldValue
nameProgressive osseous heteroplasia
fielddermatology

Progressive osseous heteroplasia is a cutaneous condition characterized by cutaneous or subcutaneous ossification.

According to the Progressive Osseous Heteroplasia Association:

It is associated with GNAS.

A telltale symptom of POH is osteoma cutis under the skin of a newborn. It was discovered in 1994 by physician Frederick Kaplan.

Diagnosis

Patients with POH have a distinctly different manifestation of symptoms than those with fibrodysplasia ossificans progressiva (FOP), though heterotopic ossification appears in both diseases. They lack the congenital abnormality of the big toe that is a diagnostic feature for FOP. People with POH also have ossification of the skin during infancy, which does not occur in FOP. Also, the pattern of ossification differs in POH, spreading in an intramembranous fashion rather than endochondral.

References

References

  1. (2007). "Dermatology: 2-Volume Set". Mosby.
  2. "About POH Disease".
  3. (July 2008). "Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification". Am. J. Med. Genet. A.
  4. Karen Kreeger. (October 9, 2017). "Piecing Together the Puzzle of a Rare-Among-Rare Bone Disorder". [[University of Pennsylvania Health System]].
  5. (1994). "Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported cases". Journal of Bone and Joint Surgery.
  6. (2000). "Progressive Osseous Heteroplasia". Journal of Bone and Mineral Research.
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This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

genodermatoses skeletal-disorders
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