Incontinentia pigmenti. A world statistical analysis

Abstract

Incontinentia pigmenti (Bloch-Sulzberger syndrome) is an uncommon genodermatosis that usually affects female infants. I reviewed 464 references from the world literature and found 653 apparently valid reports of patients with incontinentia pigmenti. Skin manifestations were found to be somewhat more common than previously reported, and systemic manifestations were found in 79.8% of the patients.

Ocular manifestations of incontinentia pigmenti

“…Previous studies have reported ocular manifestations in incontinentia pigmenti in 25-35% (Scott et al 1955;Carney 1976). The first was a review of 91 cases reported in the literature, and the second study was a meta-analysis of 455 patients in the literature.…”

“…The diagnosis is made by a skin biopsy. Dental manifestations occur in 65%, according to Carney (1976), and include partial or total anodontia, late dentition, and pegged and otherwise malformed teeth. Various neurological features such as convulsive disorders, cerebral palsy and retarded development occur in at least 30% (Carney 1976).…”

“…Ocular manifestations, often asymmetric, are described in 35% (Carney 1976). Most characteristic are various retinal lesions involving both the developing retinal vessels and the underlying pigment epithelium (RPE).…”

“…avascular areas, tortuous, irregular vessels, exudates, vitreous haemorrhages, preretinal fibrosis, RPE mottling or hypopigmentation and retinal detachment (Rahi & Hungerford 1990;Goldberg & Custis 1993). Apart from the retinal features, others are described including optic atrophy, foveal hypoplasia, microphthalmos, cataract, conjunctival pigmentation, corneal changes, iris hypoplasia, uveitis, phthisis, nystagmus, strabismus and myopia (Carney 1976;Francois 1984;Goldberg & Custis 1993).…”

“…Several reports on selected groups of cases with ocular manifestations in incontinentia pigmenti have been published (Watzke et al 1976;Raab 1983;Eisenhaure et al 1985;Spallone 1987;Goldberg & Custis 1993) and also a few metaanalyses of the literature (Scott et al 1955;Carney 1976). The aims of the present study were to make an inventory of the disease in Sweden, to acquire better knowledge of it from the genetic, dental, neurological and ophthalmological points of view, to give information to the patients and their families, to promote creation of an association for patients with incontinentia pigmenti, and to suggest a programme for follow-up of these patients.…”