Congenital cutis laxa type IC in a newborn with a newly identified genetic variant.

Abstract

Congenital cutis laxa is a rare connective tissue disorder, often apparent at birth or shortly thereafter, characterised by loose, redundant and inelastic skin that hangs in folds. In addition to cutaneous abnormalities, the condition can have systemic features including pulmonary, cardiovascular and gastrointestinal involvement, with varying severity depending on the underlying genetic mutation. We report the case of a Caucasian male newborn who presented with loose, wrinkled skin at birth. Initially evaluated for both cardiac and diaphragmatic abnormalities, the dermatological assessment was crucial in establishing the diagnosis, which was later confirmed by genetic testing. This case highlights the importance of early recognition and comprehensive assessment of cutaneous and systemic manifestations in newborns with suspected connective tissue disorders.