On the curious association of diaphragmatic hernia and Urban-Rifkin-Davis Syndrome (Autosomal Recessive Cutis Laxa-1C): A collective review of 16 cases
DOI:
https://doi.org/10.47338/jns.v13.1290Keywords:
Cutis laxa, Urban Rifkin Davis syndrome, Diaphragmatic hernia, Hiatus hernia, Respiratory distress, Genetic mutationAbstract
Background: Autosomal recessive cutis laxa type-1C is also known as Urban-Rifkin-Davis syndrome (URDS). It is known to affect cardiopulmonary, integumentary, gastrointestinal, musculoskeletal and genitourinary systems. However, its frequent association with congenital diaphragmatic hernia has not previously been highlighted.
Case Presentation: A newborn male with cutis laxa presented with respiratory distress at birth. The cause of dyspnoea was perinatal strangulation of the stomach in hiatus hernia. After surgical repair of the hernia, his respiratory distress temporarily improved but kept recurring periodically by various mechanisms in sequence namely pulmonary hypertension, tracheomalacia, pulmonary emphysema and finally he succumbed to pneumothorax. Genetic analysis revealed his skin condition as autosomal recessive cutis laxa type-1C which is also known as URDS. Exome sequencing revealed a novel frameshift mutation c.426delC (p.Cys143Alafs*41) of the LTBP4 gene in the exon 5 of Chromosome 19.
Conclusion: Out of the 28 cases of URDS reported in the world literature 57% had congenital diaphragmatic hernia (CDH) and 53% of them died during infancy. Such a high incidence of CDH is not observed in other subtypes of elastic disorders. Thus, congenital diaphragmatic defects appear to be a characteristic diagnostic feature of URDS in patients with cutis laxa.
Downloads
Metrics
References
Beyens A, Boel A, Symoens S, Callewaert B. Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology. Clin Genet. 2021; 99: 53-66. doi:10.1111/cge.13865
Berk DR, Bentley DD, Bayliss SJ, Lind A, Urban Z. Cutis laxa: a review. J Am Acad Dermatol. 2012; 66: 842. e1-17. doi: 10.1016/j.jaad.2011.01.004
Urban Z. LTBP4 and autosomal recessive cutis laxa type 1C. In: Erickson RP, Wynshaw-Boris AJ. Epstein's inborn errors of development: the molecular basis of clinical disorders of morphogenesis. 3edn. Oxford: Oxford University Press. 2016; 431-434
Urban Z, Hucthagowder V, Schurmann N, et.al. Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. Am J Hum Genet. 2009; 85: 593-605. doi:10.1016/j.ajhg.2009.09.013
Callewaert B, Su CT, Van Damme T, et.al. Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. Hum Mutat. 2013; 34: 111-21. doi:10.1002/humu.22165
Su CT, Huang JW, Chiang CK, et.al. Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability. Hum Mol Genet. 2015; 24: 4024-36. doi:10.1093/hmg/ddv139
Ritelli M, Cammarata-Scalisi F, Cinquina V, Colombi M. Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review. Mol Genet Genomic Med. 2019; 7: e00735. doi:10.1002/mgg3.735
Gupta N, Langeh N, Sridharan A, Kabra M. Identification of a novel 19-bp deletion mutation in LTBP4 using exome sequencing in two siblings with autosomal recessive cutis laxa type 1C. J Pediatr Genet. 2020; 9: 125-131. doi:10.1055/s-0039-1698806
Melo MS, Ferreira SL, Nunes S, et.al. A novel case of autosomal recessive cutis type 1C: Case report and literature review. 24th Annual Meeting of Sociedade Portuguesa de Genetica Humana. Nov 20, 2020 (virtual)
Albayrak HM, Emiralioglu N, Damar C. Overview of the pulmonary manifestations in patients with autosomal recessive cutis laxa type-1C. Pediatr Allergy Immunol Pulmonol. 2020; 33: 207-212. doi:10.1089/ped.2020.1156
Zhang Q, Qin Z, Yi S, et.al. Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type-1C and a review of the related literature. BMC Med Genomics. 2020; 13: 183 (9 pages). doi:10.1186/s12920-020-00842-6
Mazaheri M, Jahantigh HR, Yavari M, Mirjalili SR, Vahidnezhad H. Autosomal recessive cutis laxa type 1C with a homozygous LTBP4 splicing variant: a case report and update of literature. Mol Biol Rep. 2022; 49: 4135-40. doi:10.1007/s11033-022-07454-6
Ravel JM, Comel M, Wandzel M, et.al. First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type-1C. Am J Med Genet A. 2022; 188: 3343-49. doi:10.1002/ajmg.a.62954
Su CT, Urban Z. LTBP4 in health and disease. Genes (Basel). 2021; 12: 795. doi:10.3390/genes12060795
Abdul-Wahab A, Janahi IA, Eltohami A, Zeid A, Faiyaz-Ul-Haque M, Teebi AS. A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar. Acta Paediatr. 2003; 92: 456-62. doi: 10.1111/j.1651-2227.2003.tb00578.x
Beck TF, Campeau PM, Jhangiani SN, et.al. FBN1 contributing to familial congenital diaphragmatic hernia. Am J Med Genet A. 2015; 167A: 831-6. doi: 10.1002/ajmg.a.36960
Brosens E, Peters NCJ, van Weelden KS, et.al. Unraveling the genetics of congenital diaphragmatic hernia: an ongoing challenge. Front Pediatr. 2022; 9: 800915. doi: 10.3389/fped.2021.800915
Schreiner Y, Schaible T, Rafat N. Genetics of diaphragmatic hernia. Eur J Hum Genet. 2021; 29: 1729-1733. doi: 10.1038/s41431-021-00972-0
Bendixen C, Reutter H. The role of de novo variants in patients with congenital diaphragmatic hernia. Genes 2021; 12: 1405. doi: 10.3390/genes12091405
Bielinska M, Jay PY, Erlich JM, Mannisto S, Urban Z, Heikinheimo M, Wilson DB. Molecular genetics of congenital diaphragmatic defects. Ann Med 2007; 39: 261-74. doi: 10.1080/07853890701326883
Bultmann-Mellin I, Dinger K, Debuschewitz C, et.al. Role of LTBP4 in alveolarization, angiogenesis, and fibrosis in lungs. Am J Physiol Lung Cell Mol Physiol. 2017; 313: L687-L698. doi:10.1152/ajplung.00031.2017
Yoshihara T, Takaragawa M, Dobashi S, Naito H. Losartan treatment attenuates hindlimb unloading-induced atrophy in the soleus muscle of female rats via canonical TGF-β signaling. J Physiol Sci. 2022; 72: 6. doi:10.1186/s12576-022-00830-8
Published
How to Cite
Issue
Section
License
Copyright (c) 2023 V Raveenthiran, Nagarajan Darun, Dhayalan Pavithra, Prakash Gambhir
This work is licensed under a Creative Commons Attribution 4.0 International License.
You are free to:
- Share — copy and redistribute the material in any medium or format
- Adapt — remix, transform, and build upon the material for any purpose, even commercially.
Terms:
- Attribution — You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.
- No additional restrictions — You may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.
