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Bullous congenital ichthyosiform erythroderma with rickets: a rare association

A 4-year-old male child, born of non-consanguineous parentage and normal full-term delivery, presented with a history of collodion membrane at birth, followed by erosions all over the body that had healed without scarring. At the age of four months, the child had developed generalized scaling with periodic shedding of scales. Eight months later, the child had developed crops of flaccid blisters over the palms, soles, and pressure sites. Gradually, the frequency of the blisters decreased, and none had developed over the six months prior to presentation. The patient’s achievement of childhood milestones has been delayed, and he did not start to walk until he reached 18 months of age. There was no family history of similar complaints. On examination, the child appeared short for his age, with a height of 85 cm (84% of that expected). He demonstrated frontal bossing, a pot belly, and bowing of the knees, giving a ‘‘windswept’’ effect. Systemic examination was normal. Dermatologic examination revealed generalized scaling and erythema. The scales were small, dark brown, and non-adherent. Thickened, ridged hyperkeratotic plaques were seen predominantly in the axillae, elbow, and knee flexures and were accompanied by a few skip areas as a result of the localized shedding of scales (Fig. 1). The palms, soles, hair, nails, and mucosa were normal. A skin biopsy showed massive hyperkeratosis, hypergranulosis with cells in the granular and spinous layer, large coarse keratohyaline granules, perinuclear vacuolation, and indistinct cell borders (Fig. 2). Although these features may be seen in other dermatoses, they are diagnostic for epidermolytic hyperkeratosis (BCIE). X-rays of the wrists and knees showed cupping and splaying of the metaphyseal ends of the long bones, irregular thickening of the line of temporary calcification, and joint space widening (Fig. 3). Laboratory examination revealed decreased levels of serum calcium (8 mg/dl), serum phosphorous (2 mg/dl), and 25-hydroxy-vitamin D 349