Medicine:Microphthalmia–dermal aplasia–sclerocornea syndrome

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Microphthalmia–dermal aplasia–sclerocornea syndrome
Other namesMIDAS syndrome[1]

Microphthalmia–dermal aplasia–sclerocornea syndrome is a condition characterized by linear skin lesions.[1][2] MLS is a rare X-linked dominant male-lethal disease characterized by unilateral or bilateral microphthalmia and linear skin defects in affected females, and in utero lethality for affected males.[3] It can be associated with HCCS,[4] mutations in it cause microphthalmia with Linear Skin Defects Syndrome.[5]

See also

  • List of cutaneous conditions

References

  1. ↑ 1.0 1.1 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1. 
  2. ↑ Happle, R.; Daniëls, O.; Koopman, R. J. J. (1993). "MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome". American Journal of Medical Genetics 47 (5): 710–3. doi:10.1002/ajmg.1320470525. PMID 8267001. 
  3. ↑ Linear Skin Defects with Multiple Congenital Anomalies, http://www.omim.org/entry/309801 
  4. ↑ "Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome". Am. J. Hum. Genet. 79 (5): 878–89. November 2006. doi:10.1086/508474. PMID 17033964. 
  5. ↑ "Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome". Am. J. Hum. Genet. 79 (5): 878–89. 2006. doi:10.1086/508474. PMID 17033964. 

External links

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