Signs and Symptoms of IP

Incontinentia pigmenti is a heterogeneous disorder that may present with one or more of a wide array of signs and symptoms throughout the body. At first clinical presentation the skin is affected , but also other ectodermal tissues including the teeth, hair, nails, eyes, and Central Nervous System (CNS) in females. Beside the skin lesions that are always present in IP, other tissues can be differently affected and the most severe effect of the disease are those related to neurological and/or ocular impairment. A cluster of symptoms can often facilitate an earlier diagnosis of IP:

I – Skin lesions:

They develop in four successive, sometimes overlapping, characteristic stages that start shortly after birth with an inflammatory vesicular rash (stage1), followed by verrucous lesions (stage2). The third stage is marked by the appearance of a skin area displaying hyperpigmentation that at the fourth stage becomes patches of atrophic hypopigmented skin.

II – Hair: Alopecia, Hypertrichosis;

III – Fingernails: Nail dystrophy;

IV – Eyes: Vision defects, Retinopathy, Retinal detachment, Microphthalmia, Retinal neuropathy, Retinal vascular visorders;

V – Central Nervous System: Seizures, Mental retardation, Spastic paresis, Cerebral atrophy, Microcephaly, Hydrocephaly, Ischemic strokes, White matter alterations, Arachnoid cysts, Cortico-subcortical atrophy, Brain morphological alterations;

VI – Orodental: Delayed primary dentition Cone/peg shaped teeth, Delayed permanent dentition, Teeth dystrophy, Impactions.

VII – Developmental Evolution