Cutis laxa

Cutis laxa, also called pachydermatocele, is a group of rare connective tissue disorders in which the skin loses its elasticity and hangs loosely in folds. The loose skin may be generalised or confined to one area, and it is often most noticeable on the face, where it gives a prematurely aged appearance. Biopsies show a reduction and degeneration of the elastic fibres of the dermis, and the joints can be loose because of lax ligaments and tendons. Severe cases can reach the internal organs, including the lungs, heart, intestines and arteries. Many cases are inherited, with autosomal dominant, autosomal recessive and X-linked recessive forms described, linked to genes such as ELN, ATP6V0A2, ATP7A, FBLN4, FBLN5 and PYCR1, but acquired forms also occur, sometimes after urticaria, drugs or neoplasms.