Medicine:Terminal osseous dysplasia with pigmentary defects

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Terminal osseous dysplasia with pigmentary defects
SpecialtyDermatology

Terminal osseous dysplasia with pigmentary defects is a cutaneous condition characterized by hyperpigmented, atrophic facial macules.[1]

It has been associated with FLNA.[2]

See also

  • Corneodermatosseous syndrome
  • Osseous choristoma of the tongue
  • List of cutaneous conditions

References

  1. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 897. ISBN 978-1-4160-2999-1. 
  2. "Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene". Am. J. Hum. Genet. 87 (1): 146–53. July 2010. doi:10.1016/j.ajhg.2010.06.008. PMID 20598277. 

External links

Classification