Hiroshi Shimizu

Publications (3)13.74 Total impact

• Article: Altered lipid profiles in the stratum corneum of Sjögren-Larsson syndrome.

  Kimiko Nakajima, Shigetoshi Sano, Yoshikazu Uchida, Masashi Akiyama, Yukari Morita, Hiroshi Shimizu
  Journal of dermatological science 07/2011; 63(1):64-6. · 3.71 Impact Factor
• Article: Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome.

  Yoshikazu Uchida, Yunhi Cho, Sam Moradian, Jungmin Kim, Kimiko Nakajima, Debra Crumrine, Kyungho Park, Mayumi Ujihara, Masashi Akiyama, Hiroshi Shimizu, Walter M Holleran, Shigetoshi Sano, Peter M Elias
  Journal of Investigative Dermatology 10/2010; 130(10):2497-9. · 6.31 Impact Factor
• Article: Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome.

  Mayumi Ujihara, Kimiko Nakajima, Mayuko Yamamoto, Mika Teraishi, Yoshikazu Uchida, Masashi Akiyama, Hiroshi Shimizu, Shigetoshi Sano
  [show abstract] [hide abstract]
  ABSTRACT: Dorfman-Chanarin syndrome (DCS), also referred to as neutral lipid storage disease with ichthyosis, is a rare autosomal recessive form of nonbullous congenital ichthyosiform erythroderma, characterized by the presence of intracellular lipid droplets in multiorgans. DCS patients often have mutations in CGI-58, which is an activator of adipose triglyceride lipase (ATGL), leading to accumulation of triglycerides (TG). To study whether a patient with DCS demonstrates TG accumulation in the epidermis and to analyze whether TG levels are correlated with skin disease activity. Skin specimen from a 62-year-old man with DCS was stained with oil red O, and analyzed on electromicrographs. Sequencing analysis of CGI-58 was performed using the patient's blood cells. The scales from the lesion were subject to lipid analysis by high-performance thin-layer chromatography (HPTLC). The patient demonstrated ichthyoform erythroderma with a distinct seasonal fluctuation: his skin lesions were aggravated in summer but resolved during winter. Epidermis of the lesion showed intracellular lipid droplets. Sequencing analysis revealed a novel missense mutation in the exon 3 of CGI-58 gene. Lipid analysis of the scales from his lesions, compared with those from normal human control, revealed increased levels of triglycerides (TG) but, in turn, decreased levels of free fatty acids, suggesting dysfunction of adipose TG lipase. Notably, the TG levels in the scales from the patient were positively correlated with the severity of ichthyosis. These results suggest that TG accumulation by epidermal keratinocytes directly contributes to ichthyosiform phenotype of DCS.
  Journal of dermatological science 12/2009; 57(2):102-7. · 3.71 Impact Factor