An atypical presentation of bullous congenital ichthyosiform erythroderma

Abstract

The authors report the case of a male neonate, born at full term by uncomplicated spontaneous vaginal delivery to non-consanguineous parents, who was noted to have areas of desquamation over the elbows, lower abdomen and scrotum within an hour of birth. Over the subsequent 48 h, flaccid blisters developed on the trunk and limbs, followed by extensive erosions, on a background of subtle generalised erythema, resembling that seen in staphylococcal scalded skin syndrome and toxic epidermal necrolysis. Although the baby remained afebrile and fed well, he was treated empirically with flucloxacillin, and an infection screen proved negative. There was no relevant family history. The clinical impression was that these signs represented an inherited blistering disorder. In order to exclude severe forms of epidermolysis bullosa, sections of frozen perilesional skin were stained, on postnatal day 2, with two commercially available antibodies, GB3 (a marker of laminin 332) and LH7.2 (a marker of type VII collagen): their normal expression excluded potentially life-threatening forms of junctional and dystrophic epidermolysis bullosa, respectively. Formal histological examination of lesional skin revealed a cleavage plane in the upper epidermis associated with dyskeratosis and clumped tonofilaments (“epidermolytic hyperkeratosis”), entirely consistent with bullous ichthyosiform erythroderma (BIE). Over the next few months, the tendency to blistering diminished, and a generalised dryness developed, in association with areas of “corrugated hyperkeratosis” typical of BIE. This case is likely to represent a sporadic mutation in one of the genes encoding either keratin 1 or 10. This case illustrates two important aspects relating to babies that develop a blistering and scalded appearance (“enfant brûlé”) in the neonatal period. The first is that such an appearance may indicate an inherited bullous disorder rather than an infective or reactive process. The second is that the primary diagnosis can often be quickly reached using very basic procedures, including direct immunofluorescence and routine histology.