Fundus changes in incontinentia pigmenti ( Bloch - Sulzberger syndrome ) : a case report

The ocular and systemic changes in incontinentia pigmenti are reviewed here and a case is reported with fundus changes which have not been described previously. Incontinentia pigmenti (IP) is characterised by ectodermal defects, with occasional associated mesodermal abnormalities. The typical skin lesions are blue-grey to chocolate-brown arranged along the naevus lines of Blaschko. These occur on the torso and the extremities. The disease can be differentiated into 2 clinical types: Bloch-Sulzberger and Naegeli. The Bloch-Sulzberger syndrome occurs predominantly in females and is usually present at birth. There is patchy, splash-like cutaneous pigmentation with whorls and splotches of pigment. It is associated with frequent ocular changes, absence or malformations of the teeth, and alopecia. The Naegeli type occurs in both males and females and appears after 2 years of age. There is a reticular type of pigmentation, sometimes associated with hypohidrosis, unhealthy and spotted teeth, and keratosis of palms and soles. The ocular anomalies occur in about a quarter of cases of Bloch-Sulzberger syndrome. They include cataract, uveitis, blue sclerae, conjunctival pigmentation, strabismus, nystagmus, papillitis, optic atrophy, metastatic ophthalmitis, pseudoglioma, retrolental fibroplasia, phthisis bulbi, and microphthalmos.