Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia

摘要

A 23-year-old man presented in our clinic complaining of erythro-derma, bullae, erosions and hyperkeratosis since birth. He had been treated with etretinate (10-30 mg) daily and topical maxa-calcitol (22-oxacalcitriol) (~5 g) daily for the prior 5 years. He had had hyperuricacidemia for the prior 3 months. His father and grandfather had diabetes mellitus, but there was no history of other disorders. A physical examination revealed a generalized mild erythroderma with hyperkeratosis (Fig. 1a). Thick scales were prominent on his elbows and the dorsa of his feet (Fig. 1a,b). The flexor sides of his arms showed hyperkeratosis with a corrugated pattern (Fig. 1c), and the palms and the soles of his feet were covered with smooth, thickened, desquamated hyperkeratosis (Fig. 1d). Erosions were seen on his abdomen and the extensor surfaces of his lower legs (Fig. 1e,f).