autosomal recessive cutis laxa type 1

Autosomal recessive cutis laxa type 1 is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

This condition is characterized by wrinkled, redundant, and sagging inelastic skin, along with severe systemic manifestations such as lung atelectasis, emphysema, vascular anomalies, and diverticula in the gastrointestinal and genitourinary tracts. The inheritance pattern and specific symptoms are not well-documented.

Patients and caregivers are encouraged to seek genetic counseling to understand the implications of this inherited condition. Connecting with rare disease registries and finding specialists experienced in connective tissue disorders may provide additional support and resources.