autosomal dominant ichthyosis vulgaris

Autosomal dominant ichthyosis vulgaris is a skin disorder characterized by dry, scaly skin that typically begins in early childhood. This condition is linked to changes in the FLG gene, which encodes the filaggrin protein essential for maintaining the skin’s moisture barrier. Most individuals notice symptoms early in life, and although the scaling can be bothersome, it rarely affects overall health. The condition often improves or even appears to disappear during adulthood but may recur later in life.

Individuals with autosomal dominant ichthyosis vulgaris most commonly experience persistent dry, scaly skin with characteristic findings such as an absence of keratohyalin granules, which is noted in all cases. In addition, some people may develop eczematoid dermatitis and experience symptoms of asthma, although these features occur in a variable proportion of affected individuals. The appearance and severity of skin symptoms can vary widely between individuals, and not all people will experience the same degree of scaling or associated skin irritation.

This condition is caused by pathogenic variants in the FLG gene, which plays a vital role in producing filaggrin, a protein critical for skin barrier function. Autosomal dominant inheritance means that inheriting one altered copy of the FLG gene is sufficient to contribute to the condition, although there can be variability in how the symptoms present. Not all individuals who carry the pathogenic variant will experience the exact same features, and even among family members, the severity and specific symptoms can differ considerably. Genetic counseling is recommended to help families understand these inheritance patterns and implications for family planning.

Currently, management focuses on supportive care and symptom management. Treatment often involves the use of heavy duty moisturizers that may contain ingredients such as lactic acid, salicylic acid, and urea to help the skin shed normally and maintain hydration. Since there are no treatments specifically approved for this condition, a multidisciplinary approach tailored to the individual is recommended. Patients should discuss treatment options with their healthcare team and consider genetic counseling as part of their care plan.

The outlook for autosomal dominant ichthyosis vulgaris is generally favorable, as the skin changes often improve or even seem to resolve during adulthood, though they may recur later in life. Severity and symptoms vary widely between individuals, with some experiencing mild scaling while others have more pronounced skin changes. Outcomes described in medical literature continue to evolve as standards of care improve. Families are encouraged to connect with specialists familiar with this condition and pursue genetic counseling to better understand inheritance risks and management options.