Incontinentia Pigmenti in a newborn: Case report and review of the literature

Margarida Silva Fonseca, Maria do Céu Ribeiro, Sónia Lira, Alberto Mota
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Incontinentia Pigmenti (IP) is a rare X-linked dominant genodermatosis resulting from mutations in IKBKG gene, affecting primary females. Most cases present with early dermatologic changes, but clinical features can be found in hair, teeth, nails, eyes, and central nervous system (CNS). A typical 4 stages skin chronologic evolution occurs from the first weeks of life and may persist into adulthood: vesicobullous, verrucous/inflammatory, hyperpigmentar and atrophic (some stages may overlap). A distribution pattern along Blaschko's Lines (BL) is typical. We describe a newborn report focusing on the aesthetic relevance and we enhance an early and correct diagnosis based on reviewed literature. A 6-day-old female neonate presented with a progressive vesicobullous eruption in the trunk, limbs and scalp, as well as infected skin lesions. No systemic involvement was found and she underwent intravenous antibiotherapy. Inflammatory markers, blood culture and polymerase chain reaction (PCR) studies to herpes simplex virus (HSV) and varicella-zoster virus (VZV) were negative. Skin biopsy was compatible with IP and IKBKG mutation was confirmed. There was spontaneous regression of most skin lesions. She had no extra-cutaneous complications and growth and psychomotor development were satisfactory until 18-months-old. This report alerts to a rare disease with potential morbidity and great aesthetic relevance, often misdiagnosed and mistaken for more common neonatal skin infections.


Genodermatosis; IKBKG mutations; Incontinentia Pigmenti; X‑linked dominant disorder

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