A Multi-center, Prospective Evaluation of Infants and Children With Congenital Ichthyosis

Prospective Evaluation of Infants and Children With Congenital Ichthyosis

This project will follow babies with ichthyosis over time in order to better understand the natural course of ichthyosis in infants and children and to examine how specific genetic mutations affect clinical characteristics.

The investigators hypothesize that early complications and comorbidities in infants with congenital ichthyosis are genotype-dependent, such that clinical standards of care can be tailored to the genetic diagnoses. Definition of clinical groups based upon phenotype may also provide useful predictors of outcome. Information gained from this study will provide the basis for the development of rational standards of care for the future management of children with congenital ichthyosis.

Inclusion Criteria:

• One parent must be able to understand and sign an informed consent document.
• Newborns who present at or within 2 months of birth with a clinical diagnosis of ichthyosis.
• Families must consent to providing DNA for genetic analysis
• Families must agree to the intake evaluation followed by 10 follow-up evaluations, which will occur at ages 1, 2, 3, 6, 9, 12, 18, 24, and 36 months.

Exclusion Criteria:

• Subjects with non-English speaking parents
• Patients with a family history of ichthyosis vulgaris
• Patients with X-linked ichthyosis