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Health tips & advice: understanding cutis laxa disorder

Cutis laxa, also known as dermatolysis or dermatomegaly is a rare disorder that is mostly inherited, but can also be acquired. Only a few hundred (or fewer) families worldwide are affected by Cutis laxa. The disorder affects the connectivity tissues of the body. Connectivity tissues provide strength and structure to the joints, muscles, skin and organs. Here’s more you should know about the disorder.

Presentation

"Cutis laxa" is an Italian term that refers to lax or loose skin. The condition, cutis laxa, is characterised by sagging, inelastic skin. Skin hangs or stretches in loose folds on the face and other parts of the body, giving a wrinkled and droopy appearance. Cutis laxa is especially noticeable when it affects skin on the neck, armpits and groin.

The disorder occurs as a result of mutations of genes involved in the formation and function of elastic fibers, such as ATP7A, ATP6V0A2, ELN, EFEMP2 or FBLN5 gene. Elastic fibers are slender types of proteins that provide flexibility and strength to the connective tissue.

Types of cutis laxa

Cutis laxa manifests in four, basic genetic forms: autosomal domant, sex-linked and two types of autosomal recessive inheritance. The two autosomal recessive forms of the disease are the most common and usually also the most severe. People with autosomal recessive cutis laxa may have seizures, intellectual disability, problems with movement and delayed development for kids.

The sex-linked form of cutis laxa is caused by a defective gene on the X chromosome. This form of the disease is considered milder with less severe symptoms like mental retardation, loose joints and the characteristic inelastic, sagging skin.

Diagnosis and treatment

Cutis laxa is usually easy to diagnose by simply examining obvious signs on the skin. Unfortunately, there is currently no effective cure for the disease. Complications can, however, be effectively managed by adopting appropriate skin care routines and getting the help of specialists, such as dermatologists, rheumatologists and cardiologists.

Consult a qualified healthcare professional as soon as you suspect a personal genetic disorder, disease or syndrome. This is especially important because severe cutis laxa can affect internal organs if not treated promptly. Your doctor will recommend the best way to manage the condition and its complications.

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