autosomal recessive congenital ichthyosis 1

Autosomal recessive congenital ichthyosis 1 is a genetic skin condition caused by mutations in the TGM1 gene, which is essential for creating the skin’s protective barrier. It is present from birth and is often noted by a collodion membrane in newborns, followed by persistent redness, scaling, and thickening of the skin. The severity and specific features can vary considerably from person to person. Although exact prevalence estimates are not available, affected individuals will typically need ongoing care to manage the condition throughout their lives.

The clinical features of autosomal recessive congenital ichthyosis 1 primarily involve the skin. Nearly all affected individuals exhibit ichthyosis, a generalized scaling of the skin, and many also develop congenital nonbullous ichthyosiform erythroderma and ectropion, where the eyelids turn outward. Palmoplantar hyperkeratosis is also common, and some individuals may experience alopecia, sparse hair, nail abnormalities such as nail dystrophy or dysplasia, and even flexion contractures in a subset of cases. Not all individuals experience all these features, and severity varies considerably.

Autosomal recessive congenital ichthyosis 1 results from pathogenic variants in the TGM1 gene. TGM1 encodes an enzyme called transglutaminase-1, which is essential for forming the cornified cell envelope in the epidermis. Disruption of this enzyme compromises the skin barrier, leading to the characteristic scaling and skin abnormalities seen in affected individuals. The condition is inherited in an autosomal recessive pattern, meaning that each child of carrier parents has a 25% chance of inheriting two mutated copies of the gene. Genetic counseling is recommended for families to better understand recurrence risks and inform family planning.

Currently, management of autosomal recessive congenital ichthyosis 1 focuses on supportive care and symptom management. Treatment is tailored to each individual and typically involves a multidisciplinary team that includes dermatology specialists. Skin care regimens, which may involve emollients and other moisturizers, help maintain the skin barrier and reduce scaling. In addition, families are encouraged to seek genetic counseling to discuss treatment options and long-term management plans with their healthcare team.

The outlook for individuals with autosomal recessive congenital ichthyosis 1 varies widely depending on symptom severity, treatment adherence, and access to specialized care. With current standards of supportive care and regular monitoring, many patients experience an improved quality of life over time. Outcomes described in medical literature continue to evolve as standards of care improve, and while the condition is chronic, the course can range from stabilization to variations in skin involvement over the years. Families are advised to connect with dermatology specialists and support groups for ongoing guidance and care.