Beyond the genome: a rare case report of cutis laxa

Cutis laxa is a heterogeneous group of rare connective tissue pathologies characterized by dermal flaccidity and diminished cutaneous elasticity, often associated with phenotypic features of premature aging. The inherited variants of cutis laxa have various modes of genetic transmission and phenotypic heterogeneity and are categorized into three main categories based on inheritance patterns: autosomal dominant, autosomal recessive, and X-linked recessive forms. Autosomal recessive cutis laxa type 1B (ARCL1B) is associated with the gene EGF-containing fibulin-like extracellular matrix protein 2 (EFEMP2).

We present a rare case report of cutis laxa in a male infant weighing 2 kg, who was delivered at 33 weeks' gestational age through an emergency grade 1 cesarean. The neonate was hypotonic with poor respiratory effort and cyanosed. He had dysmorphic features, small eyes, loose folds, and sagging, inelastic, and droopy skin. The abdomen was soft with a massive inguinal hernia, and the genitalia were not visible. Multiple limb deformities were also observed, including in utero fractures of the ribs and the long bones, a healed left femur fracture with callus formation, a healing fracture of the left 7th posterior rib, and right angular rib fractures. The neonate showed a small atrial septal defect with left-to-right shunting, severe right atrial enlargement and moderate left atrial enlargement, and severe tricuspid regurgitation. Mechanical ventilation, with escalated high-frequency oscillation and inhaled nitric oxide with a fraction of inspired oxygen of 100% oxygen, was performed, in addition to administering epinephrine, dobutamine, and hydrocortisone. Whole-exome sequencing detected ARCL1B. However, the neonate's status deteriorated, and he eventually succumbed at nine days of age.

This case report and literature review highlights the occurrence of an extremely rare case, underscoring the significance of a multidisciplinary approach and prenatal detection to diagnose and manage such a rare case, aiming to contribute to the existing literature.