Title: Autosomal Recessive Cutis Laxa Type 1: A Rare Case Report

Authors: Samriti Sood, Saru Thakur, Mudita Gupta, Reena K Sharma, GR Tegta, Mohit Bajaj

 DOI: https://dx.doi.org/10.18535/jmscr/v7i8.47

Abstract

Cutis laxa is an acquired or inherited disorder of connective tissue characterized by wrinkled and inelastic skin. This is attributed to inborn errors of elastin synthesis and structural defects of extracellular matrix proteins. The inherited form of cutis laxa is uncommon as compared to the acquired form. We present a ten months boy of autosomal recessive cutis laxa type 1 with pulmonary involvement.

Keywords: cutis laxa, recessive, sagging skin, type 1.

References

  1. Burrows N. Genetic Disorders of Collagen, Elastin and Dermal Matrix In: GriffithsC, Barker J, Bleiker T, Chalmers R, Creamer D eds, Rook’s, Textbook of Dermatology. 9th ed. John Wiley & Sons, Ltd 2016. p. 72.11.
  2. Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, et al. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+‑ATPase subunit ATP6V0A2. Nat Genet 2008;40:32‑4.
  3. Dhale SN, Rathod AD,Sonawane S. A Case Report of Cutis Laxa.Bombay Hospital Journal 2012; 54:186-7.
  4. Morava E, Guillard M, Lefeber DJ, Wevers RA. Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet 2009;17:1099‑110.
  5. Urban Z, Gao J, Pope FM, Davis EC: Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. J Invest Dermatol 2005; 124: 1193-9.
  6. Elahi E, Kalhor R, Banihosseini SS et al: Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. J Invest Dermatol 2006; 126: 1506-9.
  7. Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z: Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet 2006; 78: 1075- 80.
  8. Kielty CM: Elastic fibres in health and disease. Expert Rev Mol Med 2006; 8: 1–23. https://doi.org/10.1017/S146239940600007X
  9. Tassabehji M, Metcalfe K, Hurst J et al: An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum Mol Genet 1998; 7: 1021– 1028. Eur J Hum Genet 2008; 16:28– 35.
  10. Hbibi M, Abourazzak S,Idrissi M, Chaouki M, Atmani S, Hida M. Cutis Laxa Syndrome: a case report. Pan Afr Med J. 2015; 20:3. https://dx.doi.org/10.11604%2Fpamj.2015.20.3.5878.

Corresponding Author

Saru Thakur

Deptt. of Dermatology, Leprosy and Venereology, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India