A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis

Figure 1

(a) Clinical features for several patients from family 1 with ichthyosis: proband from family 1 shows dry, cracked skin and hyperkeratosis on the bottom of the feet. (b) Clinical features for several patients from family 1 with ichthyosis: another member of family 1 exhibits fine, white scales in addition to erythroderma over entire body. (c) Clinical features for several patients from family 1 with ichthyosis: severe hyperlinear palms on an additional member of family 1. (d) Clinical features for several patients from family 2 with ichthyosis: the patient exhibits yellowish adherent scales and dry skin on the scalp. In addition, the patient displays fine white scales over the entire body and erythroderma. (e) and (f) Clinical features for several patients from family 2 with ichthyosis: hyperkeratosis can be observed on the feet, knees, and elbows (b and c). The patient and the other affected individuals in the family all have hypohidrosis and have severe heat intolerance. The affected patients in family 2 also have difficulty in breathing and allergic rhinitis. (g) Anonymous pedigree information for family 1: members included are labelled by ICH followed by a number. (h) Anonymous pedigree information for family 2.