cutis laxa, autosomal recessive, type 1d

Cutis laxa, autosomal recessive, type 1d is a connective tissue disorder characterized by widespread abnormalities in skin elasticity and multiple structural anomalies. This condition is associated with pathogenic variants in the EFEMP1 gene, which plays a role in the integrity of elastic fibers. Affected individuals exhibit a constellation of features involving the skin, skeletal system, and various organ systems. The condition is inherited in an autosomal recessive pattern, and while precise prevalence data are not available, it is recognized as a rare disorder.

Individuals with cutis laxa, autosomal recessive, type 1d present with a broad range of clinical features that reflect its multi-system nature. Characteristic findings include dural ectasia and blepharochalasis, which are observed in every affected person. Ocular features such as astigmatism, telecanthus, and ectropion of the lower eyelids occur alongside distinct orofacial characteristics including a narrow palate, long face, dental malocclusion, high anterior hairline, narrow face, and long philtrum. Musculoskeletal anomalies are evidenced by arachnodactyly, joint hypermobility, and accelerated skeletal maturation, while gastrointestinal involvement is seen in rectal prolapse, colonic diverticula, and rectocele. In addition, the presence of hernias including femoral and inguinal, as well as features like narrow uvula, dermal translucency, and downturned corners of the mouth, further define the clinical picture. Not all individuals experience every feature, and severity varies considerably.

This condition is caused by pathogenic variants in the EFEMP1 gene, which is important for the formation and maintenance of elastic fibers in connective tissue. It is inherited in an autosomal recessive manner, meaning that affected individuals have inherited two copies of the altered gene, one from each parent. As a result, parents of an affected individual may be carriers even though they do not show symptoms, and genetic counseling is recommended to help families understand the implications and risks for future pregnancies.

Currently, management focuses on supportive care and symptom management as no treatments have been specifically approved for this condition. Treatment is tailored to the individual and typically involves a multidisciplinary team to address the wide range of clinical features. Regular surveillance is an essential part of long-term care, helping to identify potential complications early and facilitate timely interventions. Patients and families are encouraged to discuss management options with their healthcare team and seek guidance from specialists experienced in managing connective tissue disorders.

The prognosis for individuals with cutis laxa, autosomal recessive, type 1d varies widely, with outcomes depending on the severity and spectrum of features present. With current standards of care, many individuals are able to manage their symptoms into adulthood, although complications related to hernias or other systemic involvement may occur. Outcomes described in medical literature continue to evolve as standards of care improve. Families are advised to connect with specialists and genetic counselors for further guidance, as individualized management and regular monitoring can play an important role in long-term care.