O05 Incontinentia pigmenti: clinical heterogeneity and the role of early dermatological recognition.

Abstract

Incontinentia pigmenti (IP) is a rare X-linked dominant genetic condition affecting the skin, teeth, eyes and central nervous system. It is most frequently caused by a common deletion of exons 4-10 in the IKBKG gene. Skin manifestations classically evolve through four stages: blistering, verrucous, hyperpigmentation and hypopigmentation. We conducted a retrospective review of patients attending our tertiary centre since 2000. The study aim was to classify the cutaneous phases of IP and other system involvement in our cohort. 44 patients were included, identified through our electronic health record system. Patient data were anonymised and analysed in SPSS. 93% were female. Mean age of presentation was 20 months, with 68% <6 months. 67% had cutaneous manifestations at birth. Not all patients followed the four classical stages of IP: 91% experienced blistering, 61% verrucous stage, 84% hyperpigmentation and 22.7% hypopigmentation. 18% had hair and 16% nail abnormalities. Mean follow-up duration was 5 years. To confirm IP diagnosis, 23% had a skin biopsy and 96% had genetic testing. 75% had the common IKBKG deletion. Of 3 male patients, all had normal karyotypes and 2 had common deletion of IKBKG, suggestive of mosaic IP. Most patients had extra-cutaneous involvement. 60% had ocular manifestations, with 48% requiring laser treatment. 27% had neurological involvement and 71% dental abnormalities. IP typically presents with cutaneous manifestations, giving dermatologists a crucial role in diagnosis. Our review highlights that patients may not exhibit the textbook presentation of IP. Early recognition has important implications for sight preservation and monitoring of neurodevelopment.