autosomal recessive congenital ichthyosis 3

Autosomal recessive congenital ichthyosis 3 is a skin condition present at birth characterized by abnormal skin scaling and impaired skin barrier function. It is caused by mutations in the ALOXE3 gene, which plays a key role in skin lipid metabolism and barrier formation. Affected individuals typically show signs soon after birth, with features that include widespread ichthyosis and a red, scaly appearance of the skin. Precise prevalence data is not available, and the condition is considered uncommon based on clinical recognition.

Individuals with this condition most consistently present with anhidrosis, congenital nonbullous ichthyosiform erythroderma, and ichthyosis, all of which are always observed. In addition, findings such as palmar hyperlinearity and heat intolerance are seen in a substantial subset, while features like eclabion, ectropion, palmoplantar keratoderma, and erythema occur less frequently. These skin findings are typically noticeable early in life, prompting further evaluation. Not all individuals experience every feature, and severity varies considerably.

Autosomal recessive congenital ichthyosis 3 is caused by pathogenic mutations in the ALOXE3 gene, which is essential for proper skin barrier formation through its role in lipid metabolism. The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two mutated copies of the gene, one from each parent, to be affected. As a result, when both parents are carriers, there is a 25% chance for each child to inherit the condition. Genetic counseling is recommended for families to better understand recurrence risks and the implications for family planning.

Currently, management focuses on supportive care and symptom management rather than targeted gene-based therapies. Treatment is tailored to the individual and typically involves a multidisciplinary team that addresses skin care regimens, hydration, and temperature control, especially given the associated heat intolerance. There is an emphasis on managing symptoms through methods such as moisturizing routines and environmental adjustments. Genetic counseling is also recommended, and patients should discuss treatment options with their healthcare team to determine which approaches may be most appropriate.

The outlook for autosomal recessive congenital ichthyosis 3 is highly variable, with the disease course depending on the degree of skin involvement and individual response to supportive care measures. With current standards of care, many individuals manage their symptoms effectively and lead active lives, though outcomes can differ significantly from one person to another. Outcomes described in medical literature continue to evolve as standards of care improve. Families are encouraged to connect with genetic counselors, specialized care teams, and support groups to stay informed about management strategies and emerging developments in care.