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. Author manuscript; available in PMC: 2009 Oct 1.
Published in final edited form as: Annu Rev Genomics Hum Genet. 2008;9:359–386. doi: 10.1146/annurev.genom.9.081307.164303

Figure 5. Hair, skin and eye pigmentation in Hermansky-Pudlak syndrome.

Figure 5

(a) Light colored hair of a boy with HPS-1. (b) White hair of a boy with HPS-4. (c) Keratoses in sun-exposed areas of a Puerto Rican patient with HPS-1. (d) Significant iris transillumination in an HPS-1 patient. Orange light, abnormally present, appears because the iris contains insufficient melanin to block it. (e) Pale retinal fundus in HPS-1, with vessels clearly visible due to lack of retinal pigment epithelium. (f) Tan-blond hair of a patient with HPS-2. (g) Mild iris transillumination in a patient with HPS-3. (h) Mild hypopigmentation of the retina in HPS-3. (i) Dark hair of a Puerto Rican boy with HPS-3. [Figures d, e, g, and h courtesy of Dr. E. Tsilou, National Eye Institute].