SNP Shot: Genomic Insights

Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a skin disorder. Newborns with NBCIE often present with a tight, transparent film called a collodion membrane encasing their skin. This membrane's tightness can cause eversion of the lips and eyelids, exposing their inner surfaces. The collodion membrane usually peels off within the first few weeks of life. After the membrane is shed, the skin becomes red (erythroderma) and scaly (ichthyosis) with fine, white scales. In early infancy, individuals with NBCIE may experience infections, dehydration due to excessive fluid loss, and breathing difficulties.

Some individuals with NBCIE exhibit thickened skin on their palms and soles (palmoplantar keratoderma), reduced or absent sweating (anhidrosis), and deformed nails (nail dystrophy). In more severe cases, hair loss (alopecia) can occur in specific areas, commonly affecting the scalp and eyebrows.

The skin issues associated with NBCIE may lessen in severity as individuals reach adulthood. Life expectancy is typically normal for those with NBCIE.

Inheritance:

NBCIE follows an autosomal recessive inheritance pattern. This means that a mutation must be present in both copies of the responsible gene within each cell for the condition to manifest. Individuals who have parents that each carry one copy of the mutated gene will typically have the condition, however the parents themselves usually do not exhibit signs or symptoms of NBCIE.