|Cutis laxa in an infant|
Cutis laxa (also known as chalazoderma, dermatochalasia, dermatolysis, dermatomegaly, generalized elastolysis, generalized elastorrhexis, or pachydermatocele) is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.
Signs and symptoms
It is characterized by skin that is loose, hanging, wrinkled, and lacking in elasticity. The loose skin is often most noticeable on the face, resulting in a prematurely aged appearance. The affected areas of skin may be thickened and dark. In addition, the joints are loose (hypermobile) because of lax ligaments and tendons. When cutis laxa is severe, it can also affect the internal organs. The lungs, heart (supravalvular pulmonary stenosis), intestines, or arteries may be affected with a variety of severe impairments. In some cases, hernias and outpouching of the bladder can be observed. Patients also present with whites of the eyes that are blue.
Cutis laxa may be caused by mutations in the genes: ELN, ATP6V0A2, ATP7A, FBLN4, FBLN5, and PYCR1. A related neurocutaneous syndrome may be caused by mutations in the gene ALDH18A1 (P5CS). Cutis laxa may also be seen in association with inherited connective tissue disorders such as Ehlers Danlos syndrome.
As of 2018, there is no treatment for cutis laxa. Procedures aimed at mitigating symptoms and identifying subsequent conditions are often advised.
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- Online Mendelian Inheritance in Man (OMIM) Cutis Laxa, Autosomal Dominant -123700
- Online Mendelian Inheritance in Man (OMIM) Cutis Laxa, Autosomal Recessive, Type II -219200
- Online Mendelian Inheritance in Man (OMIM) Cutis Laxa, X-Linked -304150
- Online Mendelian Inheritance in Man (OMIM) Cutis Laxa, Autosomal Recessive, Type I -219100
- Online Mendelian Inheritance in Man (OMIM) Fibulin 5; FBLN5 -604580
- Online Mendelian Inheritance in Man (OMIM) Pyrroline-5-Carboxylate Reductase 1; PYCR1 -179035
- Online Mendelian Inheritance in Man (OMIM) Aldehyde Dehydrogenase 18 Family, Member A1; ALDH18A1 -138250
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