Incontinentia pigmenti

Abstract

Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected, such as the central nervous system, eyes, hair, nails and teeth. The disease has a X-linked dominant inheritance pattern and is usually lethal to male fetuses. The dermatological findings occur in four successive phases, following the lines of Blaschko: First phase - vesicles on an erythematous base; second phase - verrucous hyperkeratotic lesions; third phase - hyperchromic spots and fourth phase - hypochromic atrophic lesions.

FIGURE 1

Stage 1: vesicopustules, following the lines of Blaschko

FIGURE 2

Stage 2: Linear verrucous plaque, following the lines of Blaschko

FIGURE 3

Stage 3: Hyperchromic and atrophic spots, following the lines of Blaschko

FIGURE 4

Atrophic and hypochromic lesions, following the lines of Blaschko

FIGURE 5

Area of scarring alopecia on the vertex of the scalp

FIGURE 6

Anterior segment biomicroscopy showing diffuse cortical lens opacities (cataracts) in a 32 years-old patient. View by direct illumination (a) and retro-illumination (b)

FIGURE 7

Fundoscopy showing (a) extensive formation of fibrous tissue at the posterior pole with flat retinal detachment and alterations in the vascular path. Vascular attenuation is seen with arterial narrowing. Pallor of the papilla, and (b) alterations of the retinal pigment epithelium. There is a diffuse mottled aspect, caused by clusters of rarefied pigments. Above the papilla, there is an area of retinal pigment hypertrophy

FIGURE 8

Deciduous dentition with increased overbite, cone-shaped maxillary right central incisor, malformed lower anterior teeth and dental agenesis

FIGURE 9

Mixed dentition with atresic maxilla, posterior crossbite on the right side, presence of irregularities on incisal margins of upper and inferior incisors and dental agenesis