cutis laxa, autosomal recessive, type 2E

Cutis laxa, autosomal recessive, type 2E is a connective tissue disorder primarily affecting the skin and facial structure, with distinct craniofacial and skeletal features. Pathogenic variants in the LTBP1 gene are implicated in disrupting normal connective tissue integrity. It is inherited in an autosomal recessive pattern, meaning that affected individuals inherit two copies of the altered gene, one from each parent. Prevalence data are not well established, so the condition is considered as having an uncertain frequency in the population.

The clinical presentation of cutis laxa, autosomal recessive, type 2E is marked by several consistently observed features. Characteristic findings include a copper beaten skull, a broad nasal tip, cutis laxa (loose, sagging skin), a wide nasal bridge, and short stature, all of which are reported in nearly all cases. Many affected individuals also display additional facial features such as a long philtrum, thick lower lip vermilion, premature sagging cheeks, and long eyelashes; skeletal features such as brachydactyly, deep palmar crease, and clinodactyly of the fifth finger; and other findings like inguinal hernia and hearing impairment occur in a subset of patients. Not all individuals experience all features, and severity varies considerably.

This condition is caused by pathogenic variants in the LTBP1 gene, which plays a role in the regulation of connective tissue structure and function. Cutis laxa, autosomal recessive, type 2E is inherited in an autosomal recessive pattern, meaning that an affected individual has received one altered copy from each parent. As a result, parents are typically asymptomatic carriers, and there is a 25% chance of recurrence in each pregnancy when both parents carry a pathogenic variant. Families are encouraged to seek genetic counseling to better understand the recurrence risks and implications for family planning.

Currently, management focuses on supportive care and symptom alleviation, as there are no specific foundational therapies or FDA-approved treatments for cutis laxa, autosomal recessive, type 2E. Treatment is tailored to the individual and typically involves a multidisciplinary team to manage the various aspects of the condition. Regular surveillance is an essential part of long-term care, helping to identify potential complications early and guiding interventions to address issues such as skeletal or facial abnormalities. Patients should discuss treatment options with their healthcare team and consider genetic counseling to understand the implications of the condition for family planning.

Outcomes in individuals with cutis laxa, autosomal recessive, type 2E vary depending on the severity of clinical features, age at diagnosis, and access to specialized care. With current standards of care, many individuals benefit from supportive management that addresses complications as they arise, and outcomes described in medical literature continue to evolve as standards of care improve. The clinical course is highly variable, and not all individuals experience the same degree of symptoms. Families often find it helpful to connect with specialists familiar with this condition and to seek genetic counseling to help navigate long-term care and planning.