ABNORMAL FIBROUS PROTEIN ISOLATED FROM THE STRATUM-CORNEUM OF A PATIENT WITH BULLOUS CONGENITAL ICHTHYOSIFORM ERYTHRODERMA (BCIE)

The fibrous protein of stratum corneum was isolated from a patient with bullous congenital ichthyosiform erythroderma (BCIE), and its properties characterized using electron microscopy, amino acid analysis and SDS gel electophoresis. Results were compared with the characteristics of the fibrous protein isolated from stratum corneum of normal controls. From 900 mg (dry weight) of stratum corneum, 68 mg of fibrous protein was obtained from the patient, while 178 mg was obtained from the normal control. Structural differences were observed with electron microscopy and chemical differences were shown in the ratio of several amino acids. On SDS electrophoresis, the 55,000 dalton constituent of normal fibrous protein could not be identified in the fibrous protein from this patient. These results suggest that an alteration of the polypeptide composition of fibrous protein from this patient with BCIE occurred, and this alteration induced the morphological and clinical features of this dominant genetic keratinization disorder. © 1979 Springer-Verlag.