Terminal osseous dysplasia with pigmentary defects

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Terminal osseous dysplasia with pigmentary defects
a) Pedigree 1 family. Individuals II.2 and II.4 are shown with facial hyperpigmented spots, oral frenulae, brachydactyly and camptodactyly,digital fibromas (arrows). Feet patient II.2 - short second through V toes.X-rays of individual II.2 showed in the left hand a short III metacarpal, mild hypoplasia of all middle phalanges, hypoplasia of all distal phalanges; right hand thin II metacarpal. The face of individual II.4 shows atrophic lesions (arrow). Hands individual II.4 have periungueal fibromatosis lesions (arrows).X-rays of individual II.4 show delayed ossification; the III metacarpal is hypoplastic. Foot X-rays individual II.4 indicate asymmetrical involvement; on the right foot the II and IV metatarsals are hypoplastic. Mother is shown (I.2) frenulae in lower lip (arrow). b) Pedigree of family 2 is shown. Individual II.2 with hyperpigmented atrophic lesions (arrows). Right arm indicates mild pterygia. Individual I.2 is shown multiple frenulae (arrow) and brachydactyly. (C) Sanger sequencing indicates c.5217G>A mutation in index case (II.2 from pedigree 1 [a]) and normal sequence mother (I.2).

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


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

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