SNP Shot: Genomic Insights

Ichthyosis with confetti is a skin condition characterized by red, scaly skin present at birth. This skin can be itchy for some individuals. During childhood or adolescence, numerous small, healthy skin patches emerge, primarily on the trunk. These light-colored spots, contrasted against the red surrounding skin, resemble confetti and give the disorder its distinctive name. The number and size of these normal skin patches tend to increase over time.

Besides the red, scaly skin, individuals with ichthyosis with confetti commonly exhibit thickened skin on the palms and soles, a condition known as palmoplantar keratoderma. Increased hair growth, or hirsutism, is also frequently observed, particularly on the arms and legs. Due to these skin abnormalities, those affected by ichthyosis with confetti have a higher susceptibility to skin infections.

Inheritance:

The inheritance pattern of ichthyosis with confetti is autosomal dominant. This means that only one copy of the mutated gene in each cell is enough to cause the condition. Typically, the disorder arises from a new mutation (a de novo mutation) occurring very early in embryonic development. In such cases, the individual is the first in their family to have the condition. Less frequently, the mutation is inherited from a parent who is also affected.