Figure 1.

Clinical features of patients 1-4. Facial features at different ages observed in patients 1 (A – infancy, B – childhood and C and D – adolescence), 2 (E – infancy and F – adulthood) and 3 (I – infancy and J – childhood). Frontal and lateral view of patient 4 is depicted in K and L. Note the short, sparse hair with abnormal texture, especially in individuals 1 and 3, perinasal papilloma in patient 2(D), and the prominent hyperkeratosis in the hands of patient 2 (G,H).