Terminal osseous dysplasia with pigmentary defects explained

Terminal osseous dysplasia with pigmentary defects
Field:Dermatology

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

Notes and References

  1. Book: Rapini, Ronald P. . Bolognia, Jean L. . Jorizzo, Joseph L. . Dermatology: 2-Volume Set . Mosby . St. Louis . 2007 . 897 . 978-1-4160-2999-1 .
  2. Sun Y, Almomani R, Aten E, etal . Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene . Am. J. Hum. Genet. . 87 . 1 . 146–53 . July 2010 . 20598277 . 10.1016/j.ajhg.2010.06.008 . 2896768.