Incontinentia pigmenti: a three generation study of two patients.

Abstract

Incontinentia pigmenti is a rare genodermatosis mainly affecting female with an X-linked dominant inheritance. The Authors describe a three generation study of two patients. In both cases the patients were born healthy from unrelated parents. They developed a vesiculo-bullous stage shortly after birth, with a classical evolution through three cutaneous stages. Besides seizures occurred in one case, no more anomalies were associated. The retrospective study led to a positive family history. The family members were not aware of their condition, because cutaneous manifestations at the perinatal period were misdiagnosed at the time. We conclude that the recognition of cutaneous and extracutaneous anomalies in newborns, children and later in adulthood (which permits a retrospective diagnosis) is crucial in genetic counselling.