cutis laxa, autosomal dominant 1

Cutis laxa, autosomal dominant 1 is a multisystem condition primarily characterized by loose, redundant skin and cardiovascular abnormalities. It is caused by a mutation in the ELN gene, which plays a crucial role in the production of elastin, an essential protein for connective tissue integrity. Individuals affected by this condition often present in childhood with skin changes and heart or lung findings, although the severity and specific features can vary widely. Precise prevalence data are not available, so the condition is understood to be infrequent in the general population.

The clinical presentation of cutis laxa, autosomal dominant 1 includes hallmark dermatologic findings such as redundant skin and cutis laxa, which are consistently present. Cardiovascular involvement is marked by peripheral pulmonary artery stenosis, with many individuals also experiencing ventricular septal defect and signs of congestive heart failure. Respiratory symptoms like bronchiectasis, dyspnea, and emphysema are reported in a subset of patients, while other features such as uterine prolapse, inguinal hernia, a convex nasal ridge, and a long philtrum may also occur. Not all individuals experience all features, and severity varies considerably.

This condition results from a mutation in the ELN gene, which encodes elastin, a critical component of connective tissue that provides elasticity and strength to various organs. Inheritance is autosomal dominant, meaning that a single copy of the altered gene is sufficient to cause the condition, and an affected individual has a 50% chance of passing the variant on to each child. The expression of symptoms may vary even within families, with some individuals exhibiting more pronounced features than others.

Currently, management focuses on supportive care and symptomatic treatment, with a personalized approach that typically involves a multidisciplinary team. Regular surveillance is an essential part of long-term care, helping to identify potential complications early, particularly in the cardiovascular and respiratory systems. Patients are encouraged to engage with specialists for ongoing evaluation and management, and genetic counseling is recommended to assist families in understanding the condition and discussing family planning options.

Outcomes in cutis laxa, autosomal dominant 1 vary considerably, with some individuals experiencing a relatively stable course and others developing progressive complications that may require continued medical intervention. With current standards of care and regular surveillance, many individuals can manage their symptoms effectively, although the impact on quality of life differs from case to case. Outcomes described in medical literature continue to evolve as standards of care improve, and patients are advised to consult a genetic counselor and clinical specialists to discuss long-term management and expectations.