Clinical manifestations and differential diagnosis of a rare form of hereditary connective tissue dysplasia, Cutis laxa syndrome

Abstract

Article is devoted to one of the rare forms of monogenic connective tissue disease, Cutis Laxa with an autosomal recessive type of inheritance (ARCL1C), the Urban-Rifkin-Davis syndrome. The bibliographical data on this disease and the medical records of a 6-year-old male pediatric patient who was observed at the Clinical Genetics Department of the Research and Clinical Institute of Pediatrics named after Academician Yuri Veltischev with the Pirogov Russian National Research Medical University (Moscow, Russia) are presented. In addition to skin lesions, the child had disorders of the cardiovascular, respiratory and urinary systems. The diagnosis was confirmed by the DNA diagnostics results: the two mutations in the compound heterozygous state were found in the LTBP4 gene: the variant rs397515430 p.1342C>T previously described in the scientific sources in exon 11 leading to a stop codon and premature termination of translation - p.Arg475Ter; the second variant, not previously described in the literature, was found in intron 4 - c.452-22A>C. A differential diagnosis with other phenotypically similar diseases was carried out. Further medical supervision of the patient should be carried out with the mandatory involvement of the pulmonologist, the cardiologist and the nephrologist.