De Novo Autosomal Dominant Cutis Laxa Type 3 With Global Developmental Delay and Musculoskeletal Features of Refractory Rickets

Abstract

ABSTRACT Cutis laxa is a genetically heterogeneous disorder characterized primarily by loose, redundant skin with abnormal wrinkling and elasticity. It is an exceptionally rare condition, with an estimated prevalence of A (p.Arg126His) substitution in the ALDH18A1 gene, which encodes the bifunctional enzyme catalyzing the final steps of de novo phospholipid biosynthesis. The present case highlights the diagnostic challenges posed by cutis laxa, as the clinical manifestations can overlap with other conditions, leading to potential misdiagnosis or delayed recognition. The rarity of this disorder, combined with its phenotypic variability, underscores the importance of raising awareness among clinicians and expanding the literature to encompass the full spectrum of presentations associated with cutis laxa.

Keywords

• developmental delay
• genetics
• neurology
• pediatrics