Microscopic examination revealed acanthosis and marked hyperorthokeratosis. There was a prominent granular cell layer with coarse keratohyaline granules, as well as perinuclear vacuolization of the keratinocytes within the granular layer and spinous cell layers, findings consistent with bullous congenital ichthyosiform erythroderma.
Bullous congenital ichthyosiform erythroderma, or epidermolytic hyperkeratosis, is an autosomal dominant disorder of keratinization.1 This severe form of ichthyosis affects approximately 1 in 300 000 individuals.2 The condition presents at birth with a generalized erythema and blistering of the skin.3 As the erythema and blistering resolve during infancy, a thick, gray, verrucous scaling begins to develop.4 This hyperkeratosis occurs predominantly on the flexural surfaces of the extremities, and, although scale formation is less common on the face, no part of the body is spared.4
Bullae in a 20-Year-Old Man. Arch Dermatol. 2001;137(11):1521-1526. doi: