| Abstract: | A 2-year-old male with KID syndrome was presented. Family history was negative for similar skin disease. The patient showed generalized ichthyosiform erythroderma, vascularizing keratitis, and neurosensory deafness. Additional clinical features included nail dystrophy, hypotrichosis, anhidrosis, and recurrent cutaneous bacterial and fungal infections. Histologic examination disclosed a basket-weave pattern of hyperkeratosis and irregular papillomatous configuration of the epidermis. Electron microscopic examination showed an excessive amount of glycogen in the cytoplasm of erector pili muscle cells. This is the first case reported in Japan. |
