P20 Erythroderma in a newborn: an atypical presentation of Incontinentia Pigmenti.

Abstract

Incontinentia Pigmenti (IP) is a rare X-linked genetic disorder characterised by four stages of cutaneous involvement: vesicular, verrucous, hyperpigmented and hypopigmented (Scheuerle AE, Ursini MV. Incontinentia Pigmenti. In: GeneReviews (Adam MP, eds). Seattle: University of Washington, 1999). Unusual first presentations may obscure the diagnosis and pose a significant diagnostic challenge. We present an atypical case of a female neonate born at thirty-seven weeks who developed a widespread erythematous rash shortly after birth covering over ninety percent of the body surface area. The erythema and associated blisters did not demonstrate a linear or blaschkoid distribution. There was no evidence of ocular, mucosal or extracutaneous involvement. Infection screen, virology and initial blood tests were unremarkable. Viral screening of the CSF was negative. Further investigation was pursued and DNA analysis of the IKBKG (NEMO) gene showed a deletion of exon 4-10 in this gene, the commonest underlying genetic cause of IP (Fusco F, Bardaro T, Fimiani G et al. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation. Hum Mol Genet 2004;13:1763-73). This case highlights erythroderma as an atypical initial manifestation of IP, deviating from its classic cutaneous presentation. The aetiology of erythroderma in the neonate has several differentials and this case highlights the importance of considering rarer diagnoses even in the absence of hallmark features. Early recognition can facilitate family counselling and monitoring for extracutaneous involvement in this multi-system disorder.