Cutis laxa is a rare group of disorders characterized by skin that appears loose, wrinkled, and lacking elasticity. This condition affects the body’s connective tissue, which provides structure and support to muscles, joints, skin, and internal organs. While some cases are acquired later in life, inherited forms of cutis laxa are typically apparent in infancy or childhood.
What is Cutis Laxa in Infants?
In infants, cutis laxa manifests as skin that sags and hangs in folds, giving babies a prematurely aged appearance. This loose, inelastic skin is often most noticeable on the face, neck, and around major joints like the arms and legs. When stretched, the affected skin returns to its original position very slowly, if at all.
The lack of elasticity stems from defects in the connective tissue. This tissue contains elastic fibers that normally allow skin to stretch and then spring back into place. In cutis laxa, these elastic fibers are sparse, fragmented, or abnormal, leading to the characteristic skin changes. Unlike some other skin disorders, cutis laxa generally does not involve easy bruising or scarring.
Genetic Causes of Cutis Laxa
Cutis laxa is a genetic condition caused by mutations in specific genes. These genes are responsible for the production and organization of elastic fibers and other components that give connective tissue its strength and flexibility. Mutations in genes such as ELN, FBLN5, and ATP6V0A2 have been identified as causes of different forms.
The inheritance patterns for cutis laxa vary, including autosomal dominant, autosomal recessive, and X-linked recessive forms. Autosomal dominant forms require one altered gene copy from a parent. Autosomal recessive forms, often more severe, require two altered gene copies, one from each carrier parent. X-linked recessive inheritance primarily affects males because the gene is located on the X chromosome.
How Cutis Laxa Affects a Baby’s Body
Cutis laxa is a systemic disorder that can affect various internal organs and body systems due to widespread connective tissue defects. The severity of these internal manifestations varies considerably depending on the specific genetic cause. Autosomal recessive forms of cutis laxa generally present with more severe internal complications compared to the autosomal dominant forms.
Cardiovascular complications can include abnormalities of blood vessels, such as arterial tortuosity (twisting or distortion of arteries), aneurysms (bulging or stretched sections of vessel walls), and narrowing of arteries, which can be life-threatening.
Respiratory system involvement may lead to early-onset emphysema, a destructive lung disease that makes breathing difficult, and can sometimes result in cor pulmonale, a type of heart failure. Airway abnormalities and frequent pulmonary infections are also possible.
The gastrointestinal tract can be affected by diverticula, which are small, soft pouches that develop in the walls of organs like the intestines or bladder. Hernias, such as inguinal or umbilical hernias, where parts of organs bulge through weak spots in the abdominal wall, are also common. Some infants may experience pyloric stenosis or rectal prolapse.
Skeletal involvement can include joint laxity (abnormally loose joints) due to lax ligaments and tendons, hip dislocations, and in some cases, features like arachnodactyly (long, thin fingers and toes) or osteoporosis. Developmental delays, intellectual disability, and neurological abnormalities such as seizures can also occur, particularly in more severe forms.
Care and Outlook for Babies with Cutis Laxa
Diagnosing cutis laxa typically begins with a physical examination of the infant’s skin. A skin biopsy, where a small tissue sample is examined under a microscope, can reveal abnormalities in the elastic fibers. Genetic testing is also performed, especially for early-onset cases or if there is a family history, to identify specific gene mutations and determine the inheritance pattern. These genetic test results can help predict the risk of passing the condition and the likelihood of internal organ involvement.
Management of cutis laxa involves a multidisciplinary approach, with specialists such as cardiologists, pulmonologists, and geneticists working together to address the various symptoms. Regular cardiovascular and pulmonary evaluations, including echocardiograms and lung function tests, are typically initiated at birth or soon after diagnosis. Treatment focuses on managing symptoms; for example, surgical repair may be performed for hernias, and medications like beta-blockers might be considered to prevent the growth of aortic aneurysms. Emphysema and other internal complications are treated symptomatically.
The long-term outlook for babies with cutis laxa varies widely, depending on the specific genetic cause and the extent to which internal organs are affected. While some forms are relatively mild with a good prognosis and normal life expectancy, particularly those with only skin involvement, others can be severe and life-threatening due to serious cardiovascular, respiratory, or gastrointestinal complications. Plastic surgery can improve the appearance of the skin, though the effects may be temporary, and recurrence of skin laxity is possible.