autosomal recessive cutis laxa type 2C

Autosomal recessive cutis laxa type 2C is a connective tissue disorder that affects the skin and cardiovascular system, typically presenting early in life. It is caused by homozygous mutations in the ATP6V1E1 gene located on chromosome 22q11. Patients often present with a distinct constellation of facial, ocular, and skeletal features, along with urogenital findings. Precise prevalence information is not well established, and severity and symptoms vary widely between individuals.

Individuals with autosomal recessive cutis laxa type 2C consistently exhibit several characteristic features. Notable among these are facial dysmorphisms such as anteverted nares, a pointed chin, a small forehead, a long philtrum, a triangular face, low-set ears, and prominent superficial veins. Additional findings that are always observed include overlapping toes, dental crowding, entropion, strabismus, blepharophimosis, premature sagging of the cheeks, and a median cleft palate. In some patients, variable features such as hypertelorism, increased laxity of the skin, kyphoscoliosis, a concave nasal ridge, and oligohydramnios may also be present. Not all individuals experience every feature, and the severity can differ considerably from one patient to another.

Autosomal recessive cutis laxa type 2C is caused by homozygous mutations in the ATP6V1E1 gene, which is essential for normal cellular function. The condition is inherited in an autosomal recessive pattern, meaning that an affected individual inherits one mutated copy from each parent. This pattern indicates that when both parents carry a variant, there is a 25% chance with each pregnancy that the child will be affected. Genetic counseling is recommended to discuss recurrence risks and explore family planning options.

Currently, management focuses on supportive care and addressing symptoms since there are no FDA-approved treatments specifically for autosomal recessive cutis laxa type 2C. Treatment is tailored to the individual and typically involves a multidisciplinary team to manage the range of features, including cardiovascular and musculoskeletal concerns. Regular surveillance is an essential part of long-term care, as scheduled evaluations help detect complications early. Patients are encouraged to discuss all treatment options with their healthcare team and to consider genetic counseling for further guidance.

The clinical course of autosomal recessive cutis laxa type 2C is highly variable, with outcomes depending on the severity of symptoms, age at diagnosis, and access to specialized care. With current standards of care, many individuals experience periods of stabilization and improved quality of life, even though some may continue to face health challenges over time. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists, including genetic counselors, to help guide long-term management strategies.