Incontinentia pigmenti with ocular, cutaneous and CNS manifestation

Abstract

Incontinentia Pigmenti (IP) is an uncommon X-linked genodermatosis, with an estimated prevalence at birth of 0.7/100,000, caused by mutations in the NEMO gene. Ectodermic and mesodermic origin of tissue is seen in this systemic disease including cutaneous tissue, teeth, eyes, and the central nervous system. Herein, we present a case of a female newborn with inflammatory vesiculopustular lesions all over the body. This baby also had ocular, and CNS manifestations as well. The importance of a detailed diagnostic workup for the newborns with pustular skin disease has been highlighted in this case. IP is a rare, x-linked dominant genodermatosis with the involvement of multiple organs. Dermatological abnormalities are the most prominent manifestation. The diagnosis is based on the clinical findings of skin lesion brain imaging and biopsy. The skin lesions do not require specific treatment and prognosis depend on other organ involvement.