Terminal osseous dysplasia with pigmentary defects

Terminal osseous dysplasia with pigmentary defects
Terminal osseous dysplasia with pigmentary defects
	This condition is inherited in an X-linked dominant manner.
Specialty	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]

References

^ 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.
^ 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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