cutis laxa, autosomal recessive, type 1B

Cutis laxa, autosomal recessive, type 1B is a systemic connective tissue disorder characterized by abnormalities in skin elasticity and involvement of multiple organ systems. The condition has a material basis in mutations of the EFEMP2 gene, which disrupts normal elastic fiber formation. Affected individuals typically present early in life with a range of features affecting the skin, cardiovascular system, respiratory system, and skeletal development. Because precise prevalence data is not available, the rarity of this condition is understood based on clinical experience rather than specific birth prevalence estimates.

The clinical presentation of cutis laxa, autosomal recessive, type 1B is striking for its involvement of multiple organ systems. Dermatologic features include cutis laxa and dermal translucency, which are hallmarks of the disorder. Musculoskeletal abnormalities such as arachnodactyly, bowing of the long bones, and spina bifida are often observed, while craniofacial differences can be seen as abnormal pinna morphology and micrognathia. Cardiac and vascular manifestations are prominent, with findings including aortic root aneurysm, ascending tubular aorta aneurysm, generalized arterial tortuosity, right ventricular dilatation, and bradycardia. Pulmonary complications, including emphysema and pulmonary arterial hypertension, as well as issues such as congenital diaphragmatic hernia, inguinal hernia, and intestinal intussusception, further underline the multisystem involvement. Not all individuals experience all features, and severity varies considerably.

This condition is caused by pathogenic variants in the EFEMP2 gene, which plays a critical role in the formation and maintenance of elastic fibers. Disruption of the EFEMP2 protein leads to the disturbed elastic fiber formation seen in affected individuals. The disorder is inherited in an autosomal recessive pattern, meaning that an affected child has received a mutated copy of the gene from each parent, who are typically asymptomatic carriers. Families are encouraged to seek genetic counseling for a comprehensive understanding of recurrence risks and family planning options.

Currently, management focuses on supportive care and symptom management tailored to each individual. Treatment is provided by a multidisciplinary team with expertise in connective tissue disorders, and regular surveillance is an essential part of long-term care, helping to identify potential complications in organ systems such as the heart, lungs, and skeleton before they become severe. Although there are no specific foundational therapies or FDA-approved treatments available for this condition, ongoing care may include interventions to address cardiovascular, respiratory, and orthopedic issues. Patients should discuss treatment options with their healthcare team to determine which therapies may be most appropriate for their needs.

The long-term outlook for individuals with cutis laxa, autosomal recessive, type 1B varies widely, with outcomes influenced by the severity and extent of multisystem involvement as well as access to specialized care. Although the condition is lifelong, advances in supportive care and regular surveillance have improved quality of life and overall outcomes for many individuals. Outcomes described in medical literature continue to evolve as standards of care improve. Families are encouraged to connect with specialists and genetic counselors for personalized guidance and to learn about supportive resources that can assist in managing the condition.