Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay
Case Report
Keywords:
connective tissue disorder, Cutis laxa Autosomal Recessive, wrinkled skinAbstract
Cutis laxa is a connective tissue disorder caused by deficiency of fibro elastic plexus, which can involve multiple organs. It is inherited in autosomal dominant, autosomal recessive, and X-linked. Autosomal recessive cutis laxa type 2, which appears to compromise a spectrum of disorders, starts with severe wrinkly skin syndrome and leads to more severe diseases related to growth and developmental delays and skeletal anomalies. The clinical manifestations in some of cases of Cutis laxa consist of redundant loose skin, pre-and post-natal growth deficiency, mental retardation, large fontanels, and dislocation of the hips. The authors present the case of a female patient with involved internal organ disorder and delay in growth in addition to skin laxity in which gene sequence analysis of PYCR1 indicated C.797G>A mutation.
References
Berk DR, Bentley DD, Bayliss SJ, Lind A, Urban Z. Cutis laxa: a review. J Am Acad Dermatol 2012;
(5): 842.e1-e17. doi: 10.1016/j.jaad.2011.01.004. PMID: 22387031.
Morava E, Guillard M, Lefeber DJ, Wevers R. Autosomal recessive cutis laxa syndrome revisited. Eur J
Hum Genet. 2009; 17(9): 1099-110. doi: 10.1038/ejhg.2009.22. PMID: 19401719, PMCID: PMC2986595.
Choudhary SV, Bisati S, Koley S. Congenital cutis laxa with rectal and uterovaginal prolapse. Indian
Journal of Dermatology, Venereology, and Leprology. 2011; 77(3): 321-324. doi: 10.4103/0378- 6323.79706. PMID: 21508572.
Tuysuz B, Arapoglu M, Ilikkan B, Demirkesen C, Perk Y. Congenital cutis laxa syndrome: type 2
autosomal recessive inheritance. Turk J Pediatr. 2003; 45(3): 265-8. PMID: 14696810.
Gveric T, Baric M, Bulat V, Situm M, Pusic J, Huljev D, Zdilar B, et al. Clinical presentation of a patient
with localized acquired cutis laxa of abdomen: a case report. Dermatol Res Pract. 2010; 2010. doi:
1155/2010/402093. PMCID: PMC2879976.
Chhabra SK, Gupta RK, Singh T. Cutis laxa and pulmonary emphysema. Indian J Chest Dis Allied Sci.
; 43(4): 235-7. PMID: 18610669.
Guernsey DL, Jiang H, Evans SC, Ferguson M, Matsuoka M, Nightingale M, et al. Mutation in pyrroline-5- carboxylate reductase 1 gene in families with cutis laxa type 2. Am J Hum Genet. 2009; 85(1): 120-9. doi:
1016/j.ajhg.2009.06.008. PMID: 19576563, PMCID: PMC2706970.
Nanda N, Alsaleh QA, Al-Sabah H, Marzouk EE, Salam AM, Nanda M, et al. Gerodermia
osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature. Pediatr
Dermatol. 2008; 25(1): 66-71. doi: 10.1111/J.1525-1470.2007.00586.X. PMID: 18304158.
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, et al. Mutations in PYCR1
cause cutis laxa with progeroid features. Nat Genet. 2009; 41(9): 1016-21. doi: 10.1038/ng.413. PMID:
Riveros CJ, Gavilán MF, França LF, Sotto MN, Takahashi MD. Acquired localized cutis laxa confined to
the face: case report and review of the literature. Int J Dermatol. 2004; 43(12): 931-5. PMID: 15569023.
Mauskar A, Shanbag P, Ahirrao V, Nagotkar L. Congenital cutis laxa. Ann Saudi Med. 2010; 30(2): 167-9.
Doi: 10.4103/0256-4947.60528. PMID: 20220272, PMCID: PMC2855073.
Fischer B, Callewaert B, Schröter P, Coucke PJ, Schlack C, Ott CE, et al. Severe congenital cutis laxa with
cardiovascular manifestations due to homozygous deletions in ALDH18A1. Mol Genet Metab. 2014;
(4): 310-6. doi: 10.1016/j.ymgme.2014.05.003. PMID: 24913064.
Published
Issue
Section
License
Copyright (c) 2020 knowledge kingdom publishing
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
