Figure 1.

Clinical Appearance of UHS

(A–G) Clinical presentation of UHS. Typical signs of UHS can be observed in three German girls (A–C), a German boy (D), a Swiss boy (E), and a Danish girl (F and G), who were included in the study. The improvement of the phenotype with aging can be observed in the Danish girl (G).

(H and I) SEM image of the Danish girl’s hair shaft showing the longitudinal groove (H) in comparison to a normal (I) hair shaft.

(J–M) The improved hair phenotype at age 15 (J) and the SEM findings (K and L) of the male sibling from the UK family. Shown are longitudinal grooves (K) and heart-shaped cross section (L) of altered hairs, both indicative of UHS, in comparison to the circular cross section from a control hair shaft (M).

Detailed information regarding the clinical histories can be found in the Supplemental Case Reports.