Ultrastructural Features of Trafficking Defects Are Pronounced in Melanocytic Nevus in Hermansky–Pudlak Syndrome Type 1 Ken Natsuga, Masashi Akiyama,

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Ultrastructural Features of Trafficking Defects Are Pronounced in Melanocytic Nevus in Hermansky–Pudlak Syndrome Type 1 Ken Natsuga, Masashi Akiyama, Tadamichi Shimizu, Tamio Suzuki, Shiro Ito, Yasushi Tomita, Junji Tanaka, Hiroshi Shimizu Journal of Investigative Dermatology Volume 125, Issue 1, Pages 154-158 (July 2005) DOI: 10.1111/j.0022-202X.2005.23743.x Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Clinical features of the Hermansky–Pudlak Syndrome 1 patient. (a) The face of the patient. The skin is pale and the hair is bright gold in color as a Japanese girl. Her eyes are pale red-brown (not shown). (b) A pinkish papule, melanocytic nevus, 5 mm in diameter, was present on her neck. Journal of Investigative Dermatology 2005 125, 154-158DOI: (10.1111/j.0022-202X.2005.23743.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 HPS gene mutations and altered splicing in the patient. Direct DNA sequence analysis of the splice donor sites in IVS6 (a) and IVS5 (b) in the HPS1 gene. In IVS6, +1G>A was detected and in IVS5, +5G>A mutation was identified. (c) A mutation of G to A at the first base of IVS6 abolished the 5′ splice site. RT-PCR and DNA sequence analysis showed that the corresponding mRNA was aberrantly spliced, using a cryptic 5′ splice site within IVS6, which resulted in a frameshift. Journal of Investigative Dermatology 2005 125, 154-158DOI: (10.1111/j.0022-202X.2005.23743.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Microscopic features of the pinkish melanocytic nevus on her neck. (a) Abundant nevus cells are aggregated in the dermis (hematoxylin and eosin, scale bar: 80 μm). (b) A few nevus cells contain melanin pigment (arrows) (hematoxylin and eosin, scale bar: 30 μm). Journal of Investigative Dermatology 2005 125, 154-158DOI: (10.1111/j.0022-202X.2005.23743.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 4 Electron microscopic features of the pinkish melanocytic nevus in Hermansky–Pudlak syndrome 1 patient. (a) In the epidermal melanocytes, the majority of melanosomes were in stage I or II (arrows) (scale bar: 5 μm). A few vesicles (arrowheads) were observed. A small number of mature melanosomes were seen (inset, scale bar: 0.4 μm). (b) In the dermal nevus cells, a large number of vacuoles and vesicles (arrows) were seen (scale bar: 2 μm). (c) Vesicles of a similar size to melanosomes (arrowheads) were seen and ceroid-like structures and electron-dense pigments were observed in these vesicles (scale bar: 1 μm). (d) Remarkable large, electron-dense structures (arrows), putative giant melanosomes were seen close to the trans-Golgi network (scale bar: 0.3 μm). (e) In the control nevus cells, abundant mature melanosomes (arrows) were observed, and some of those melanosomes were aggregated (arrowheads) (scale bar: 4 μm). There were no giant melanosomes and abnormal vesicles. Journal of Investigative Dermatology 2005 125, 154-158DOI: (10.1111/j.0022-202X.2005.23743.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions