Incontinentia Pigmenti in an Infant Suspected of Retinoblastoma

Purpose: This case study reports on an infant presented with strabismus and poor red reflex, suspected of retinoblastoma, and finally diagnosed as a case of Incontinentia pigmenti (IP). Case presentation: A ۷-month-old infant was referred due to poor fixation and abrupt red reflex of the left eye for further evaluation of retinoblastoma. In anterior segment examinations, we found a micro cornea, a relatively shallow anterior chamber, and hypotonia. Fundus examination revealed a total tractional retinal detachment with vitreous membranes. In her skin examination, we discovered diffuse cutaneous linear pigmentation (lines of Blaschko), consistent with Incontinentia Pigmenti (IP). Discussion: A wide range of disorders involving the fundus, cause similar signs and symptoms to retinoblastomas, such as leukocoria and poor red reflex, categorized as pseudo retinoblastoma. IP is a dysplastic ectodermal disorder with dominant X-linked inheritance, affecting integumentary, ocular, nervous, and dental tissues, and is responsible for less than ۱% of cases of pseudo retinoblastoma. Although rare, achieving early diagnosis for IP is of utmost importance, since not only would it enable clinicians to treat and manage retinal complications, but it would also help them detect potentially fatal neurological issues.

کلیدواژه ها:

Incontinentia Pigmenti ، Retinoblastoma ، Pseudoretinoblastoma