Overview of the Pulmonary Manifestations in Patients with Autosomal Recessive Cutis Laxa Type IC

Mutlu-Albayrak, Hatice; Emiralioğlu, Nagehan; Damar, Çağrı

doi:10.1089/ped.2020.1156

Cited by 4 publications

(1 citation statement)

References 9 publications

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“…[3,4] Since its first description in 2009, only 27 cases of URDS have been documented in the world literature. [4][5][6][7][8][9][10][11][12][13] (Table 1) URDS is caused by mutation of the gene for Latent Transforming Growth Factor-β Binding Protein-4 (LTBP4). [14] This syndrome is characterized by predominant involvement of pulmonary, gastrointestinal, genitourinary, musculoskeletal and dermal systems.…”

Section: Introductionmentioning

confidence: 99%

On the curious association of diaphragmatic hernia and Urban-Rifkin-Davis Syndrome (Autosomal Recessive Cutis Laxa-1C): A collective review of 16 cases

Raveenthiran,

Darun,

Pavithra

et al. 2024

J Neonatal Surg

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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.

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Section: Introductionmentioning

confidence: 99%

On the curious association of diaphragmatic hernia and Urban-Rifkin-Davis Syndrome (Autosomal Recessive Cutis Laxa-1C): A collective review of 16 cases

Raveenthiran,

Darun,

Pavithra

et al. 2024

J Neonatal Surg

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Effect of decreased expression of latent TGF-β binding proteins 4 on the pathogenesis of emphysema as an age-related disease

Ishii,

Yamaguchi,

Takada

et al. 2024

Archives of Gerontology and Geriatrics

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Compromised Cardiopulmonary Function in Fibulin-5 Deficient Mice

Ramachandra

Mikush

Sauler

et al. 2022

Journal of Biomechanical Engineering

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Competent elastic fibers are critical to the function of the lung and right circulation. Murine models of elastopathies can aid in understanding functional roles of the elastin and elastin-associated glycoproteins that constitute elastic fibers. Here, we quantify together lung and pulmonary arterial structure, function, and mechanics with right heart function in a mouse model deficient in the elastin-associated glycoprotein fibulin-5. Differences emerged as a function of genotype, sex, and arterial region. Specifically, functional studies revealed increased lung compliance in fibulin-5 deficiency consistent with histologically observed increased alveolar disruption. Biaxial mechanical tests revealed that the primary branch pulmonary arteries exhibit decreased elastic energy storage capacity and wall stress despite only modest differences in circumferential and axial material stiffness in the fibulin-5 deficient mice. Histological quantifications confirm a lower elastic fiber content in the fibulin-5 deficient pulmonary arteries, with fragmented elastic laminae in the outer part of the wall - likely the reason for reduced energy storage. Ultrasound measurements confirm sex differences in compromised right ventricular function in the fibulin-5 deficient mice. These results reveal compromised right heart function, but opposite effects of elastic fiber dysfunction on the lung parenchyma (significantly increased compliance) and pulmonary arteries (trend toward decreased distensibility) and call for further probing of ventilation-perfusion relationships in pulmonary pathologies. Amongst many other models, fibulin-5 deficient mice can contribute to our understanding of complex roles of elastin in pulmonary health and disease.

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Overview of the Pulmonary Manifestations in Patients with Autosomal Recessive Cutis Laxa Type IC

Cited by 4 publications

References 9 publications

On the curious association of diaphragmatic hernia and Urban-Rifkin-Davis Syndrome (Autosomal Recessive Cutis Laxa-1C): A collective review of 16 cases

On the curious association of diaphragmatic hernia and Urban-Rifkin-Davis Syndrome (Autosomal Recessive Cutis Laxa-1C): A collective review of 16 cases

Effect of decreased expression of latent TGF-β binding proteins 4 on the pathogenesis of emphysema as an age-related disease

Compromised Cardiopulmonary Function in Fibulin-5 Deficient Mice

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